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Fabry Disease

Anderson Fabry Disease

Fabry disease, also known as Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency, is a rare genetic lysosomal storage disorder.

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Presentation

Some cases show no significant clinical manifestations. In other cases, the clinical manifestations of Fabrys disease appear early in life. With age, these manifestations may increase in severity.

One of the common clinical features of this disease is pain. This pain is usually episodic. It may appear in the whole body or may be localized to the arms and legs. In the latter case, the pain is referred to as acroparesthesia [1]. This pain is usually of a burning sensation and is often further localized to the most distal parts of the limbs, i.e. the hands and the feet. It is believed that this pain results from damage to the peripheral nerves. Pain also commonly occurs in gastrointestinal tract, is of a diffuse nature and results from a generalized obstruction in the lipid laden blood vessels of the gastrointestinal tract. Episodes of pain can be triggered by a number of factors such as physical activity, fatigue, fever, stress and environmental changes.

A number of skin abnormalities frequently occur in the sufferers of Fabry diseases. Raised papules called angiokeratomas are common. These are dark red rashes and can occur anywhere on the body; but usually occur only on the lower half; more particularly around the umbilicus & on the thighs, buttocks and legs. Sweat gland dysfunction is also present in most cases. Usually there is reduced sweating but cases of excessive sweating have also been seen.

Ocular changes are very frequent in Fabry disease. The corneas of both eyes are typically affected. They have visible clouding which upon closer inspection is found to consist of golden brown lines arranged in a whorled pattern. This is known as cornea verticillata or whorl keratopathy. It is one of the most characteristic features of Fabry disease. However it must be noted that despite the apparent clouding of the cornea, there is no disturbance in vision.

With time, lipids deposit in the heart, kidneys and nerves of the patient. Symptoms related to these organs begin to manifest after the age of 30. Glycolipid deposition in the heart predisposes the heart to the development of various kinds of diseases. Cardiovascular disorders such as hypertension and cardiomyopathies, most particularly, left ventricular hypertrophy, are very common in the sufferers of Fabry disease [2]. Patients of Fabry disease may suffer from angina and myocardial infarction. Syncope and dyspnea are also seen in a majority of the patients with cardiovascular manifestations. Conduction defects such as VT that occur in these patients may be secondary to cardiomyopathies.

Chronic lipid deposition in the nephrons results in the renal manifestations of Fabry disease. The earliest clinical feature is proteinuria. The urine has a higher viscosity and may even appear foamy. There is progressive deterioration in the function of the kidney, causing renal insufficiency. Later, the kidneys may shut down completely and cause renal failure [3].

Pain
  • Anticonvulsants are commonly used to reduce pain in neuropathic pain disorders, including diabetic neuropathic pain [ 96 - 99 ].[ncbi.nlm.nih.gov]
  • Ten patients sought medical consultation because of abdominal pain and were diagnosed with food intoxication or nonspecific pain.[ncbi.nlm.nih.gov]
  • Among 214 patients (110 males), 84.1% had bilateral limb pain and 31.8% had unilateral limb pain recorded at some time point; 61 (28.5%) patients had a positive family history possibly associated with Fabry disease.[ncbi.nlm.nih.gov]
  • Effect of therapy on neuropathic pain while without neuropathic pain medications measured by question 3 of the Brief Pain Inventory (BPI).[ncbi.nlm.nih.gov]
  • Pain is a common early symptom of FD (chronic pain characterized by burning and tingling paresthesia and occasional episodic crises characterized by agonizing burning pain). Pain may resolve in adulthood.[orpha.net]
Fever
  • KEYWORDS: Algorithm; Diagnosis; FUO; Fabry disease; Fever of unknown origin; RFUO; Rare diseases; Recommendations; Recurrent fever of unknown origin[ncbi.nlm.nih.gov]
  • Some patients may have recurrent fevers with no obvious source. Pain usually accompanies the fevers, and an elevated erythrocyte sedimentation rate may be present.[emedicine.medscape.com]
  • Neuropathic pain was the most frequent initial complaint, and rheumatic fever was the most common diagnosis. Seven patients were treated with penicillin for many years.[ncbi.nlm.nih.gov]
  • One of them was diagnosed with Familial Mediterranean Fever, the other with Multiple Sclerosis.[ncbi.nlm.nih.gov]
  • Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever.[ncbi.nlm.nih.gov]
Fatigue
  • The most frequent manifestations in female patients were fatigue and cornea verticillata (50%), and tinnitus, vertigo and angiokeratoma (25%).[ncbi.nlm.nih.gov]
  • CASE REPORT 2: An 18-year-old male referred to our hospital by general practitioner for fatigue and pedal oedema with deranged renal function tests.[ncbi.nlm.nih.gov]
  • Patients may report lack of energy and fatigue.[emedicine.medscape.com]
  • Other signs include angiokeratoma, corneal changes, tinnitus, chronic fatigue, cardiac and cerebrovascular abnormalities (left ventricular hypertrophy, arrhythmia, angina), dyspnea, and nephropathy.[orpha.net]
  • The progressive accumulation of GL-3 and its derivative, lyso-GL-3, results in symptoms that include characteristic skin lesions (angiokeratomas), decreased sweating (hypohidrosis), chronic fatigue, depression, neuropathic pain in the hands and feet ([sema4genomics.com]
Burning Pain
  • CONCLUSION: Suspicion of Fabry disease in teenager males presenting with symptoms of burning pain in extremities may lead to early diagnosis and treatment of this condition before occurrences of complications.[ncbi.nlm.nih.gov]
  • Treatment attempts have been aimed primarily at relief of the intense burning pain typical of the disease. Kidney failure is the most common cause of death, which occurs at an average age of 40 in the predominantly male victims.[britannica.com]
  • Pain is a common early symptom of FD (chronic pain characterized by burning and tingling paresthesia and occasional episodic crises characterized by agonizing burning pain). Pain may resolve in adulthood.[orpha.net]
  • Fabry disease is a progressive genetic condition that causes health problems like extreme tiredness (fatigue), little to no sweating, a reddish-purplish skin rash (angiokeratomas), burning pain in the hands and feet, problems in the heat and cold, frequent[thinkgenetic.com]
  • Diagnosis in males is clinical, based on appearance of typical skin lesions (angiokeratomas) over the lower trunk and by characteristic features of peripheral neuropathy (causing recurrent burning pain in the extremities), corneal opacities, and recurrent[merckmanuals.com]
Heat Intolerance
  • The most frequent manifestations in male patients were fatigue (100%), tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%), heat intolerance (71%), and abdominal pain (57%).[ncbi.nlm.nih.gov]
  • Only his 11-year-old daughter - showing acroparaesthesias and heat intolerance with reduced enzymatic activity - had the same mutation.[ncbi.nlm.nih.gov]
  • He had heat intolerance and decreased sweating. The diagnosis of Fabry's disease was confirmed by the detection of reduced α-galactosidase A activity in peripheral leukocytes. He received carbamazepine for the neuropathic pain.[nejm.org]
  • This results in heat intolerance and can be quite debilitating. The single most debilitating symptom associated with Fabry disease is pain. The patient develops significant burning pain in the extremities especially affecting the palms and soles.[aocd.org]
  • In addition to impaired kidney function, symptoms of Fabry disease include: pain, typically in the hands and feet clusters of small, dark red spots on the skin decreased ability to sweat chronic fatigue heat intolerance depression anxiety cloudiness of[aakp.org]
Dyspnea
  • We present the case of a 60-year-old woman with symptoms of dyspnea, atypical chest pain and palpitations, in whom a transthoracic echocardiogram revealed an apical variant of hypertrophic cardiomyopathy.[ncbi.nlm.nih.gov]
  • Other signs include angiokeratoma, corneal changes, tinnitus, chronic fatigue, cardiac and cerebrovascular abnormalities (left ventricular hypertrophy, arrhythmia, angina), dyspnea, and nephropathy.[orpha.net]
  • Obstructive and constrictive lung diseases have both been documented in a subgroup of patients, often presenting as wheezing, dyspnea, or bronchitis. Priapism has been associated with Fabry disease.[emedicine.medscape.com]
  • Syncope and dyspnea are also seen in a majority of the patients with cardiovascular manifestations. Conduction defects such as VT that occur in these patients may be secondary to cardiomyopathies.[symptoma.com]
Cough
  • Other organs and systems: widespread involvement produces many other manifestations of the disease, including cough, breathlessness, wheeze, etc. Male homozygotes with atypical manifestation Some alpha-galactosidase activity in plasma (5-35%).[patient.info]
  • Common and Other Possible Side Effects: Common side effects reported in 20% or more of Fabrazyme treated patients in clinical studies compared to placebo were upper respiratory tract infection, headache, cough, burning and/or tingling sensation, fatigue[fabrazyme.com]
  • Chronic cough is a common complaint in men as well as women. 60 While the cough may be worsened by reactive airway disease or tobacco use, it can occur in individuals without these risk factors. 61, 62 Spirometry may show signs of obstructive ventilatory[nature.com]
  • Respiratory involvement Respiratory involvement, manifesting as dyspnea with exercise, chronic cough and wheezing, is frequent in both genders with FD [ 147, 148 ].[ncbi.nlm.nih.gov]
Diarrhea
  • Gastrointestinal signs and symptoms-abdominal pain, nausea, diarrhea and diverticular disease--are some of the most frequently reported complaints in patients with Fabry disease but are often neglected.[ncbi.nlm.nih.gov]
  • A 57-year-old male with a family history and laboratory findings of Fabry disease, was consulted for severe abdominal pain, undulating pyrexia, weight loss and diarrhea.[ncbi.nlm.nih.gov]
  • Common manifestations include episodes of postprandial abdominal pain and bloating, followed by multiple bowel movements, diarrhea, nausea, vomiting, and early satiety.[emedicine.medscape.com]
  • Results from the FACETS trial showed that after 6 months, significantly more patients receiving migalastat experienced improvement in diarrhea compared with placebo (43% vs 11%; p 0.02), including the subset with baseline diarrhea (71% vs 20%; p 0.02)[emedicine.com]
Abdominal Pain
  • Ten patients sought medical consultation because of abdominal pain and were diagnosed with food intoxication or nonspecific pain.[ncbi.nlm.nih.gov]
  • Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever.[ncbi.nlm.nih.gov]
  • Gastrointestinal signs and symptoms-abdominal pain, nausea, diarrhea and diverticular disease--are some of the most frequently reported complaints in patients with Fabry disease but are often neglected.[ncbi.nlm.nih.gov]
  • A 57-year-old male with a family history and laboratory findings of Fabry disease, was consulted for severe abdominal pain, undulating pyrexia, weight loss and diarrhea.[ncbi.nlm.nih.gov]
  • He complained of recurrent abdominal pain, post prandial bloating and pain. This child's enzyme activity was 1.65nmol/mL/h.[ncbi.nlm.nih.gov]
Nausea
  • Gastrointestinal signs and symptoms-abdominal pain, nausea, diarrhea and diverticular disease--are some of the most frequently reported complaints in patients with Fabry disease but are often neglected.[ncbi.nlm.nih.gov]
  • Non-specific gastrointestinal symptoms, including pain, diarrhoea, nausea, and vomiting, can be the first symptoms of Fabry disease. They may suggest more common disorders, e.g. irritable bowel syndrome or inflammatory bowel disease.[ncbi.nlm.nih.gov]
  • […] with nausea, bloating and post-prandial diarrhea Fatigue Episodic pain crises, acroparesthesia Hypohidrosis Corneal and lenticular opacities Heat and cold intolerance Adulthood Proteinuric renal insufficiency/failure Cerebrovascular disease with risk[massgeneral.org]
  • Symptoms in early childhood include severe “burning” pain in hands and feet, growth retardation, nausea and abdominal pain, post prandial diarrhoea and hypohidrosis.[renalandurologynews.com]
  • Symptoms related to autonomic nervous system dysfunction may include hypohidrosis, impaired pupillary constriction and saliva and tear production, gastrointestinal dysmotility (abdominal cramping pain, bloating, diarrhea, nausea), and sensory losses.[ncbi.nlm.nih.gov]
Vomiting
  • Non-specific gastrointestinal symptoms, including pain, diarrhoea, nausea, and vomiting, can be the first symptoms of Fabry disease. They may suggest more common disorders, e.g. irritable bowel syndrome or inflammatory bowel disease.[ncbi.nlm.nih.gov]
  • Common manifestations include episodes of postprandial abdominal pain and bloating, followed by multiple bowel movements, diarrhea, nausea, vomiting, and early satiety.[emedicine.medscape.com]
  • Symptoms include: Numbness or severe burning sensation and pain in the hands and feet Reduced sweating Cloudiness of the cornea, which covers the iris and pupil of the eye Red or purple skin lesions Gastrointestinal problems (stomach cramps, nausea, vomiting[davita.com]
  • Patients may experience : Gastrointestinal problems, including: nausea vomiting diarrhea Cardiovascular problems, including: heart failure arrhythmia heart attack faulty heart valves enlarged heart This happens because years of GL-3 buildup results in[medicalnewstoday.com]
  • Gastrointestinal disease: this can include symptoms of diarrhoea, weight loss abdominal pain, nausea and vomiting. Renal disease: this produces hypertension, proteinuria and progressive kidney disease.[patient.info]
Constipation
  • […] progressive genetic condition that causes health problems like extreme tiredness (fatigue), little to no sweating, a reddish-purplish skin rash (angiokeratomas), burning pain in the hands and feet, problems in the heat and cold, frequent diarrhea and constipation[thinkgenetic.com]
  • Severe pain in the feet, high fevers, headaches, constipation and fatigue. These were all symptoms our son Blake started experiencing at the age of 5 1/2.[globalgenes.org]
  • 16.3 16 Palpitations 20 50 41.6 15.3 30 LV hypertrophy 26 65 50.4 11.3 35 Renal/urinary 40 100 37.3 16.6 61 Proteinuria 35 86 38.8 18.2 59 Dialysis 1 40.0 1 Transplants 1 2 40.1 1.2 2 Gastrointestinal 50 124 21.4 16.6 65 Diarrhoea 19 46 19.0 15.8 23 Constipation[ncbi.nlm.nih.gov]
  • The vast majority of adverse events (eg, constipation, abdominal pain crisis, and hearing loss) were symptoms that are typically observed in patients with Fabry disease and were not thought to be related to the study drug.[doi.org]
Macroglossia
  • We report the case of a 50-year-old male FD patient on hemodialysis who presented with macroglossia-related speaking difficulty and gastrointestinal symptoms.[ncbi.nlm.nih.gov]
Heart Failure
  • A 73-year-old woman with a first episode of heart failure was admitted to our hospital. Her left ventricular wall motion was mildly reduced without hypertrophy. Urine sediment revealed mulberry cells, leading to the diagnosis of Fabry disease.[ncbi.nlm.nih.gov]
  • failure, sudden cardiac death and stroke-related death.[ncbi.nlm.nih.gov]
  • Renal failure, heart failure and/or myocardial infarction, and stroke were among the most likely causes of death.[emedicine.com]
  • METHODS: To determine whether IVS4 919G A is a frequent cause of heart disease, we genotyped it in normal controls and other disease cohorts (type 2 diabetes, heart failure, ventricular tachycardia, atrial fibrillation and coronary artery disease).[ncbi.nlm.nih.gov]
Hypertension
  • All true Fabry patients had arterial hypertension (AHT), and one had hypertrophic obstructive cardiomyopathy (HOCM). CONCLUSIONS: In a group of unselected patients with LVH, we found a prevalence of Fabry disease of 0.9%.[ncbi.nlm.nih.gov]
  • Author information 1 Department of Cardiovascular Medicine and Hypertension, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima, Japan. yuasan@hotmail.com. 2 Department of Internal Medicine,[ncbi.nlm.nih.gov]
  • Moreover, there is a greater prevalence of hypertension, cardiac disease, and renal disease in patients affected by Fabry disease that have suffered a stroke.[ncbi.nlm.nih.gov]
  • The subsequent organ damage that manifests in childhood and early adulthood presents a widely variable clinical picture of pain, hypertension, and cardiac, renal, nervous system, and lung dysfunction.[ncbi.nlm.nih.gov]
  • At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis.[ncbi.nlm.nih.gov]
Tachycardia
  • Although ventricular tachycardia has been reported in male patients with Fabry disease, it is not thought to be a frequent finding in females.[ncbi.nlm.nih.gov]
  • METHODS: To determine whether IVS4 919G A is a frequent cause of heart disease, we genotyped it in normal controls and other disease cohorts (type 2 diabetes, heart failure, ventricular tachycardia, atrial fibrillation and coronary artery disease).[ncbi.nlm.nih.gov]
  • tachycardia (VT) or ventricular fibrillation (VF).[doi.org]
  • […] cardiomyopathy causing breathlessness.Fabry disease can also affect the way in which the heart conducts electrical impulses, leading to both abnormally slow heart rhythms such as complete heart block, but also abnormally rapid heart rhythms such as ventricular tachycardia[en.wikipedia.org]
  • Two patients had non‐sustained ventricular tachycardia on Holter monitoring (patients 2 and 3) and two were in atrial fibrillation (patients 5 and 11).[ncbi.nlm.nih.gov]
Palpitations
  • A 58-year-old woman was referred to our cardiology service with chest pain, exertional dyspnoea and palpitations on a background of known Fabry disease diagnosed with genetic testing in 1994.[ncbi.nlm.nih.gov]
  • We present the case of a 60-year-old woman with symptoms of dyspnea, atypical chest pain and palpitations, in whom a transthoracic echocardiogram revealed an apical variant of hypertrophic cardiomyopathy.[ncbi.nlm.nih.gov]
  • The prevalence of angina was 23 vs. 22%; palpitations and arrhythmias 27 vs. 26%; exertional dyspnoea 23 vs. 23%; and syncope 2 vs. 4%, in women and men, respectively (all P NS).[eurheartj.oxfordjournals.org]
  • These abnormal heart rhythms can cause blackouts, palpitations, or even sudden cardiac death.Sphingolipids can also build up within the heart valves, thickening the valves and affecting the way they open and close.[en.wikipedia.org]
  • Of the cardiac manifestations reported by the patient, left ventricular hypertrophy was declared in 26% of the female population studied, and palpitations were reported by 20%.[ncbi.nlm.nih.gov]
Acroparesthesia
  • What is Known: • Signs and symptoms of Fabry disease are seen in children KEYWORDS: Acroparesthesia; Alpha-galactosidase A; Children; Fabry disease; Limb pain; Screening[ncbi.nlm.nih.gov]
  • Patients with hearing loss presented a significantly higher value of microalbuminuria (p   .001) and a higher frequency of acroparesthesias (p   .032). Patients presented a comparable hearing level one year after starting ERT (p   .384).[ncbi.nlm.nih.gov]
  • The earliest manifestations include acroparesthesias, angiokeratomas, hypohidrosis, and lenticular and corneal changes.[emedicine.com]
  • The third case was a 41year-old daughter that presented with acroparesthesias, hypoidrosis since she was very young.[ncbi.nlm.nih.gov]
Leg Pain
  • In this paper, we studied a 54 year-old female who had complaints of leg pain, palpebral edema and telangiectasis and in whom foam cells in renal biopsy as well as proteinuria in urinalysis were revealed.[jstage.jst.go.jp]
Tinnitus
  • Tinnitus and progressive sensorineural hearing loss are frequent complains. A stabilization of hearing function has been reported with enzyme replacement therapy (ERT).[ncbi.nlm.nih.gov]
  • Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature.[ncbi.nlm.nih.gov]
  • The most frequent manifestations in female patients were fatigue and cornea verticillata (50%), and tinnitus, vertigo and angiokeratoma (25%).[ncbi.nlm.nih.gov]
  • Other symptoms include decreased sweating, gastrointestinal problems, joint pain, back pain, ringing in the ears (tinnitus) and fever. Symptoms may be triggered by exercise, fatigue, stress, and changes in the weather.[news-medical.net]
  • Six patients out of 22 (27.3%) complained of tinnitus. Tinnitus occurred in the context of sudden deafness for 2 patients, and progressive hearing loss for 2 other patients. In the remaining 2 patients, audition was normal on the side with tinnitus.[ncbi.nlm.nih.gov]
Hearing Problem
  • Hearing problems - This may include a gradual loss of hearing or ringing in the ears (tinnitus). Emotional issues - Many patients may have feelings of fear and depression, related to their illness.[kidney.org]
  • Hearing problems may occur, such as gradual hearing loss or ringing in the ears, known as tinnitus. These are due to GL-3 accumulation.[medicalnewstoday.com]
  • problems Additionally, patients may benefit from working with physical therapists, nutritionists, and psychologists to help manage symptoms.[medicinenet.com]
  • Hearing Problems Tinnitus, or ringing in the ears, and hearing loss are common in Fabry disease.[fabrazyme.com]
  • Gastrointestinal problems (abdominal pain, post-prandial diarrhea, number of bowel movements per day, bloating, nausea) and hearing problems need to be documented, as well as the family history (e.g., renal/cardiac failure, transient ischemic attack ([ncbi.nlm.nih.gov]
Angiokeratoma
  • ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY'S DISEASE). Arch Dermatol. 1965 Mar; 91 :206–218. [ PubMed ] [ Google Scholar ] HENRY EW, RALLY CR. The renal lesion in angiokeratoma corporis diffusum (Fabry's disease).[ncbi.nlm.nih.gov]
  • Angiokeratomas are the earliest manifestation of Fabry disease (FD), and the extent of their appearance is related to disease severity. Angiokeratomas are mostly found on cutaneous regions.[ncbi.nlm.nih.gov]
  • Dystopic Lipidosis Fabry Disease, Cardiac Variant Ceramide Trihexosidase Deficiency Diffuse angiokeratoma FD Gla Deficiency FABRY DISEASE edit English Fabry disease human disease Fabry's disease Anderson-Fabry disease angiokeratoma corporis diffusum[wikidata.org]
  • Enzyme replacement therapy (ERT) for Fabry disease does not show a clear benefit in angiokeratoma. We describe two Japanese siblings with Fabry disease, who were diagnosed when angiokeratomas were found on the older sibling at the age of 13 years.[ncbi.nlm.nih.gov]
  • Ueber einen Fall von Angiokeratoma circumscriptum am linken Oberschenkel. Dermatologische Zeitschrift, 1915, 22: 1-4. Zur Klinik und Ätiologie der Angiokeratoma. Archiv für Dermatologie und Syphilis, Berlin, 1916, 123: 294-307.[whonamedit.com]
Skin Lesion
  • The characteristic skin lesions of Fabry disease are the earliest signs that may lead to diagnosis in childhood. Death usually occurs in early adulthood from renal and cardiac complications of the vascular disease.[themedicalbiochemistrypage.org]
  • Fa·bry disease \ ˈfä-brē- \ variants: or Fabry's disease \ -brēz- \ Medical Definition of Fabry disease : a disorder of lipid metabolism that is inherited as an X-linked recessive trait and is characterized by skin lesions especially on the lower trunk[merriam-webster.com]
  • If you have a specific question or concern about a skin lesion or disease, please consult a dermatologist.[aocd.org]
  • Patients present with the skin lesions, small red spots seen on the lower abdomen, thighs and scrotum, corneal opacities, episodes of fever, primary aparasthesia of the extremities and peripheral oedema and renal failure.[whonamedit.com]
Anhidrosis
  • Six patients sought consultation because of anhidrosis, considered of unclear cause, and angiokeratomas diagnosed as petechiae. Internists and pediatricians were the most frequently consulted specialists.[ncbi.nlm.nih.gov]
  • Dermal manifestations of Fabry disease include cutaneous vascular lesions (angiokeratomas) and abnormal sweating (anhidrosis or, more commonly, hypohidrosis).[emedicine.medscape.com]
  • Anhidrosis or hypohidrosis may occur causing heat and exercise intolerance.[orpha.net]
  • About one quarter of male patients develop anhidrosis, the complete inability to produce sweat. This results in heat intolerance and can be quite debilitating. The single most debilitating symptom associated with Fabry disease is pain.[aocd.org]
Flushing
  • Agalsidase alfa was generally well tolerated in patients with Fabry disease, with infusion reactions (e.g. rigors, pyrexia, flushing) being the most commonly occurring adverse event.[ncbi.nlm.nih.gov]
  • These reactions have included: localized swelling of the face, mouth and throat, narrowing of breathing airways, low blood pressure, hives, difficulty swallowing, rash, trouble breathing, flushing, chest discomfort, itching and nasal congestion.[fabrazyme.com]
  • These include chills, headache, nausea, pyrexia (fever), pain and discomfort, flushing and fatigue (tiredness), and are rarely severe. For the full list of all side effects and restrictions with Replagal, see the package leaflet.[ema.europa.eu]
  • Other very common side effects include headache, paraesthesia (abnormal sensations like pins and needles), nausea (feeling sick), vomiting, flushing and feeling cold. Side effects reported in children are similar to those seen in adult patients.[ema.europa.eu]
  • Bone marrow (BM) cells from littermate α- Gal A /0 mice (first experiment n 3, second experiment n 2) were harvested by flushing the femora and tibiae with DMEM and 10% FBS and were washed once with PBS as described ( 12 ).[ncbi.nlm.nih.gov]
Decreased Sweating
  • He had heat intolerance and decreased sweating. The diagnosis of Fabry's disease was confirmed by the detection of reduced α-galactosidase A activity in peripheral leukocytes. He received carbamazepine for the neuropathic pain.[nejm.org]
  • The progressive accumulation of GL-3 and its derivative, lyso-GL-3, results in symptoms that include characteristic skin lesions (angiokeratomas), decreased sweating (hypohidrosis), chronic fatigue, depression, neuropathic pain in the hands and feet ([sema4genomics.com]
  • Other symptoms include decreased sweating, gastrointestinal problems, joint pain, back pain, ringing in the ears (tinnitus) and fever. Symptoms may be triggered by exercise, fatigue, stress, and changes in the weather.[news-medical.net]
  • Classic Fabry disease symptoms in males and females typically start in the first 3-10 years of life with onset of burning pain in the hands and feet, decreased sweating, problems in the heat, a reddish-purplish rash, and gastrointestinal issues such as[thinkgenetic.com]
  • In the absence of these factors, it is recommended to test patients who have any of the following two features: [6] Decreased sweating (anhidrosis or hypohidrosis) Reddish-purple skin rash in the bathing trunk area (angiokeratomas) Personal and/or family[emedicine.com]
Corneal Opacity
  • opacity, lysosomal disease with restrictive cardiomyopathy, lysosomal disease with hypertrophic cardiomyopathy, rare hereditary metabolic disease with peripheral neuropathy, syndrome associated with hypertrophic cardiomyopathy Benannt nach Johannes Fabry[commons.wikimedia.org]
  • opacity, lysosomal disease with restrictive cardiomyopathy, lysosomal disease with hypertrophic cardiomyopathy, rare hereditary metabolic disease with peripheral neuropathy, syndrome associated with hypertrophic cardiomyopathy Prende il nome da Johannes[commons.wikimedia.org]
  • Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.[merckmanuals.com]
  • opacity), and hearing loss.[rarediseases.info.nih.gov]
  • opacities, and vascular disease affecting the kidneys, heart, or brain[merriam-webster.com]
Vortex Keratopathy
  • Keratopathy may be the presenting feature in asymptomatic patients, and must be differentiated from other causes of vortex keratopathy (e.g. drug deposition in the cornea).[en.wikipedia.org]
  • They correlate with a progressive deposition of glycosphingolipids in ocular structures. 6, 7, 8, 9, 10, 11, 12 Conjunctival and retinal vessels are tortuous and may exhibit aneurysmal dilatations. 13, 14 A vortex keratopathy (“cornea verticillata”) represents[ncbi.nlm.nih.gov]
Kidney Failure
  • The kidney failure seen in some of those with Fabry disease sometimes requires haemodialysis.[en.wikipedia.org]
  • Enzyme Replacement: Until recently the only treatments available helped to relieve symptoms but did not prevent long-term complications, such as heart attacks, strokes and kidney failure.[kidney.org]
  • Kidney failure is the most common cause of death, which occurs at an average age of 40 in the predominantly male victims.[britannica.com]
  • These patients may have all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes[orpha.net]
  • Prevention - Fabry disease Diagnosis - Fabry disease Prognosis - Fabry disease Patients with Fabry disease often survive into adulthood but are at increase risk of strokes, heart attack and heart disease, and kidney failure.[checkorphan.org]
Renal Impairment
  • CASE PRESENTATION: A previously fit and well 32-year-old Caucasian male presented with multisystem dysfunction including renal impairment.[ncbi.nlm.nih.gov]
  • Renal impairment was first detected at age 29; it began with high plasma levels of creatinine and microalbuminuria date. The third case was a 41year-old daughter that presented with acroparesthesias, hypoidrosis since she was very young.[ncbi.nlm.nih.gov]
  • Neurological and renal impairments (serum creatinine, 0.87 0.20; median, 0.80; interquartile range, 0.70-1.01 mg/dL; glomerular filtration rate, 102 23; median, 106; interquartile range, 84-113 mL/min) were discreet.[ncbi.nlm.nih.gov]
  • Classic symptoms include pain and parathesis in the extremities, gastrointestinal disturbances, cardiomyopathy, progressive renal impairment, corneal and lenticular opacities and characteristic skin lesions called angiokeratomata.[themedicalbiochemistrypage.org]
Hematuria
  • A 54-year-old male presented with proteinuria, hematuria, and hypertension, and a 33-year-old male presented with proteinuria without clinical signs or family history of Fabry disease.[ncbi.nlm.nih.gov]
  • Microscopic hematuria was observed in case 4. Extrarenal symptoms included: acroparesthesia in case 1, 2, and 6, hypohidrosis in case 6 and angiokeratomas with hearing loss in case 3.[ncbi.nlm.nih.gov]
  • No further progression of the disease has been noted.The other patient, a 30 year-old woman, suffered from long-term hematuria with a good renal function. Recently, proteinuria (2.6 g/day) appeared and a renal biopsy was performed.[ncbi.nlm.nih.gov]
  • […] females, who have more variable severity due to variable lyonization of X chromosome and may have normal leukocyte alpha-galactosidase A activity Clinical symptoms include angiokeratomas on skin of abdomen, buttocks, lips, genitalia and upper thighs Also hematuria[pathologyoutlines.com]
  • Clinically, the renal disease manifests as hypertension, moderate proteinuria, lipiduria, and microscopic hematuria. Many heterozygous females manifest some signs of the disease, but in an attenuated form.[jasn.asnjournals.org]
Microscopic Hematuria
  • Microscopic hematuria was observed in case 4. Extrarenal symptoms included: acroparesthesia in case 1, 2, and 6, hypohidrosis in case 6 and angiokeratomas with hearing loss in case 3.[ncbi.nlm.nih.gov]
  • Clinically, the renal disease manifests as hypertension, moderate proteinuria, lipiduria, and microscopic hematuria. Many heterozygous females manifest some signs of the disease, but in an attenuated form.[jasn.asnjournals.org]
Stroke
  • Summary of Demographics of Fabry Registry Patients by Stroke Category and by Gender Characteristics Males With Strokes (n 86) Males Without Strokes (n 1157) Females With Strokes (n 52) Females Without Strokes (n 1151) All Patients With Strokes (n 138)[stroke.ahajournals.org]
  • BACKGROUND: Fabry disease (FD) is known as a rare cause of stroke. Recent studies suggested that FD is an underdiagnosed entity among young stroke patients.[ncbi.nlm.nih.gov]
  • METHODS: All stroke patients under 70 years of age who were entered into the Saint Vincent's University Hospital stroke database over a 6-month period underwent enzyme analysis and/or genetic testing as appropriate for Fabry disease.[ncbi.nlm.nih.gov]
  • Stroke. 2017 Jul;48(7):1766-1772. doi: 10.1161/STROKEAHA.116.016083. Epub 2017 Jun 8.[ncbi.nlm.nih.gov]
  • Copyright 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved. KEYWORDS: Fabry disease; cerebrovascular disease; mutations; stroke; young[ncbi.nlm.nih.gov]
Peripheral Neuropathy
  • Neurological complications include central nervous system involvement with cerebrovascular disease, peripheral neuropathy, and autonomic dysfunction.[ncbi.nlm.nih.gov]
  • neuropathy, syndrome associated with hypertrophic cardiomyopathy Benannt nach Johannes Fabry Normdatei Q615645 GND-Kennung: 4153455-4 Reasonator Scholia Statistik Unterkategorien Es werden 4 von insgesamt 4 Unterkategorien in dieser Kategorie angezeigt[commons.wikimedia.org]
  • neuropathy, syndrome associated with hypertrophic cardiomyopathy Prende il nome da Johannes Fabry Controllo di autorità Q615645 identificativo GND: 4153455-4 Reasonator Scholia Statistica Sottocategorie Questa categoria contiene le 4 sottocategorie indicate[commons.wikimedia.org]
  • As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and chronic kidney disease.[ncbi.nlm.nih.gov]
  • And also, cornea verticillata (56.5%), peripheral neuropathy (51.4%), cardiovascular manifestations (31.4%), hearing loss (20%), angiokeratomas (20%), central nervous system (17.1%), and gastrointestinal involvement (14.3%).[ncbi.nlm.nih.gov]
Headache
  • Cerebrovascular/Central Nervous System Problems Dizziness or vertigo, headache, and early stroke are all cerebrovascular symptoms of Fabry disease. Anticoagulants (blood thinners) may be prescribed for those at risk of stroke.[fabrazyme.com]
  • Severe pain in the feet, high fevers, headaches, constipation and fatigue. These were all symptoms our son Blake started experiencing at the age of 5 1/2.[globalgenes.org]
  • […] numbness or weakness of the face, arm or leg, especially on one side of the body Sudden confusion Sudden trouble speaking Sudden trouble seeing in one or both eyes Sudden trouble walking Sudden dizziness, loss of balance or coordination Sudden, severe headache[cedars-sinai.edu]
  • Headache and muscle involvement responding to corticosteroid and methotrexate treatment We report the case of a 38-year-old female patient who had been diagnosed as lupus erythematosus because of generalized muscle and burning pain combined with slightly[centogene.com]
  • Patients have a higher risk of: stroke dizziness numbness headaches weakness Emotional and psychological problems, such as anxiety, fear and depression, can occur as a result of living with the symptoms associated with Fabry disease.[medicalnewstoday.com]
Vertigo
  • The most frequent manifestations in female patients were fatigue and cornea verticillata (50%), and tinnitus, vertigo and angiokeratoma (25%).[ncbi.nlm.nih.gov]
  • Paroxysmal attacks of severe rotational vertigo occur in many patients. Although these episodes are usually brief, some prolonged severe attacks require cessation of activities for several days.[emedicine.medscape.com]
  • Hemiparesis, vertigo, diplopia, dysarthria, hemianopia, sensory loss, and other typical stroke symptoms characterize CNS involvement.[emedicine.com]
  • […] syncope Fatigue Episodic pain crises, acroparesthesias Heat and cold intolerance Hypohidrosis Angiokeratomas Corneal and lenticular opacities Other Fabry-related cerebrovascular signs and symptoms associated with Fabry disease may include: Hemiparesis Vertigo[massgeneral.org]
Seizure
  • Patients may present with transient ischemic attacks, vascular thromboses, seizures, or hemorrhagic or ischemic stroke. Paroxysmal attacks of severe rotational vertigo occur in many patients.[emedicine.medscape.com]
  • Because of these changes patients may develop seizures, clots, cerebral hemorrhage as well as personality changes or psychotic behavior.[aocd.org]
  • Episodic pain crises, acroparesthesias Heat and cold intolerance Hypohidrosis Angiokeratomas Corneal and lenticular opacities Other Fabry-related cerebrovascular signs and symptoms associated with Fabry disease may include: Hemiparesis Vertigo Diplopia Seizures[massgeneral.org]
  • The severe pain associated with Fabry disease usually responds well to anti-seizure drugs such as Dilantin or Neurontin . ACE inhibitors and other high blood pressure medications may help delay loss of kidney function.[davita.com]
  • […] hyperhidrosis) exercise, heat, or cold intolerance characteristic corneal and lenticular opacities (corneal whorls), observed by slit lamp examination unexplained stroke (thrombosis, transient ischemic attacks [TIA], basilar artery ischemia and aneurysm, seizures[invitae.com]

Workup

The diagnosis of Fabry disease can be made by demonstrating below normal levels of the enzyme alpha galactosidase (or its activity) either in the blood plasma, white blood cells or other cultured cells. While this is an effective diagnostic method in males, it can be unreliable in females as it fails to identify the carrier state of this disease [4]. The carrier state results from X chromosome inactivation in some females, usually heterozygotes with one normal and one affected X chromosome. Recently, LysoGb3 has been introduced as a new biomarker, which is especially valued for therapeutic monitoring.

Another approach for diagnosing this disease is molecular genetic testing. Although expensive, it is a much more reliable method for the definite diagnosis of this disease in both males and females. Mutations in the GLA gene are identified through advanced biotechnological methods. If mutations exist, the diagnosis can be made with certainty. Mutations in several genes other than GLA are also attributed to be the cause of Fabry disease but their diagnostic importance is very limited.

Multiple Renal Cysts
  • On imaging, the kidneys have non-specific findings of medical renal disease including increased echogenicity, thinned renal cortex, and multiple renal cysts.[radiopaedia.org]
Microalbuminuria
  • Patients with hearing loss presented a significantly higher value of microalbuminuria (p   .001) and a higher frequency of acroparesthesias (p   .032). Patients presented a comparable hearing level one year after starting ERT (p   .384).[ncbi.nlm.nih.gov]
  • Conclusions: In the field of nephrology, patients with high levels of proteinuria or microalbuminuria (150-200 mg/day) should be screened for FD, particularly in areas with a high incidence and/or prevalence of kidney disease.[ncbi.nlm.nih.gov]
  • Renal impairment was first detected at age 29; it began with high plasma levels of creatinine and microalbuminuria date. The third case was a 41year-old daughter that presented with acroparesthesias, hypoidrosis since she was very young.[ncbi.nlm.nih.gov]
  • Microalbuminuria, proteinuria, and isosthenuria may be apparent in adolescence and early adulthood.[emedicine.medscape.com]
  • Hyperfiltration, microalbuminuria and proteinuria, sometimes nephrotic range, can be seen in the second or third decade of life, often progressing to renal failure by the fifth decade of life.[renalandurologynews.com]
Albuminuria
  • RESULTS: No statistical differences were found in baseline or final GFR or albuminuria.[ncbi.nlm.nih.gov]
  • These studies confirm increased podocyturia in Fabry disease, even when proteinuria and albuminuria are absent. Podocyturia correlates with clinical severity of Fabry nephropathy, and potentially may be of prognostic value.[ncbi.nlm.nih.gov]
  • He recorded that the patient had been afflicted since childhood and that varicose veins, rectal bleeding and albuminuria had developed.[whonamedit.com]
  • We hypothesize that albuminuria may precede overt proteinuria, but additional longitudinal studies should define the prognostic value of albuminuria in patients with Fabry disease.[ndt.oxfordjournals.org]
  • Noteworthy, the two boys receiving ERT developed de novo albuminuria despite treatment. The authors suggested kidney biopsies in all children and adolescents with Fabry disease and albuminuria in order to evaluate the extent of renal damage.[ncbi.nlm.nih.gov]
Alpha-Galactosidase A Deficiency
  • From Wikidata Jump to navigation Jump to search human disease Fabry's disease Anderson-Fabry disease angiokeratoma corporis diffusum alpha-galactosidase A deficiency Fabry's disease (disorder) alpha galactosidase deficiency deficiency of melibiase Hereditary[wikidata.org]
  • Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency.[ncbi.nlm.nih.gov]
  • Anderson-Fabry disease, Angiokeratoma corporis diffusum, Alpha-galactosidase A deficiency, Angiokeratoma, diffuse, GLA deficiency, Ceramide trihexosidase deficiency Overview Fabry disease is an inherited disorder that results from the buildup of a particular[checkorphan.org]
  • The disease has a number of names, including angiokeratoma corporis diffusum, alpha-galactosidase A deficiency, and was for many years known as Anderson-Fabry disease, but is now usually referred to simply as Fabry disease.[fabry.com.au]
  • A small percentage of females who carry a mutation in one copy of the GLA gene never develop signs and symptoms of Fabry disease. alpha-galactosidase A deficiency Anderson-Fabry disease angiokeratoma corporis diffusum angiokeratoma diffuse ceramide trihexosidase[ghr.nlm.nih.gov]
Short PR Interval
  • PR interval) Arrhythmias, hypertrophic cardiomyopathy (young adults) Red-purple, non-blanching vascular skin lesions.[ncbi.nlm.nih.gov]
  • General physicians and cardiologists should consider the diagnosis of FD in patients with LVH, cardiomyopathy, and conduction abnormalities, including short PR intervals and inverted ST segments without evidence of infarction.[ncbi.nlm.nih.gov]
  • It could be interesting to search whether a positive correlation between heart symptoms and hearing loss would appear when all cardiac manifestations including ECG modifications such as short PR interval, conduction abnormalities and rhythm disturbances[ncbi.nlm.nih.gov]
  • General physicians and cardiologists should consider the diagnosis of Fabry disease in patients with LVH, cardiomyopathy, and conduction abnormalities, including short PR intervals and inverted ST segments without evidence of an infarction.[ncbi.nlm.nih.gov]
  • Apart from QRS voltage changes, up to 40% of affected male patients have a short PR interval typically without the presence of a concomitant delta wave suggesting accelerated AV nodal connection (Pochis et al. 1994 ; Jastrzebski et al. 2006 ).[doi.org]
Myocardial Fibrosis
  • A different cardiomyopathic disease progression between male and female patients was hypothesised in previous studies, as in female myocardial fibrosis was found without left ventricular (LV) hypertrophy, while myocardial fibrosis was always detected[ncbi.nlm.nih.gov]
  • Cardiac manifestation includes left ventricular hypertrophy, thickening of the valves, conduction disturbances and in the late phase, extensive areas of myocardial fibrosis with increased risk of sudden cardiac death.[ncbi.nlm.nih.gov]
  • Cardiac MRI demonstrated asymmetric hypertrophy with evidence of diffuse myocardial fibrosis in the maximally hypertrophied segments from base to apex with late gadolinium enhancement in the anterior and anteroseptal walls.[ncbi.nlm.nih.gov]
  • At the age of 35, he was referred to our hospital and started dialysis: the unusual finding of left ventricular hypertrophy with a normal ejection fraction and of myocardial fibrosis at the cardiac magnetic resonance suggested a diagnosis of Fabry disease[ncbi.nlm.nih.gov]
  • However, the relationship between sympathetic neuronal damage measured by 123 I-metaiodobenzylguanidine (MIBG) imaging with myocardial fibrosis on cardiac magnetic resonance (CMR) is still unclear.[ncbi.nlm.nih.gov]
Left Ventricular Hypertrophy
  • […] such as apical variants of left ventricular hypertrophy.[ncbi.nlm.nih.gov]
  • Then, it is necessary to remember this disease as a differential diagnosis when encountering unexplained left ventricular hypertrophy. KEYWORDS: Enzyme replacement therapy; Fabry disease; Left ventricular hypertrophy; α-Galactosidase A[ncbi.nlm.nih.gov]
  • Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy. 2015, Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • KEYWORDS: Classical phenotype; Fabry disease; GLA gene; Left ventricular hypertrophy; Mutation; Nonsense[ncbi.nlm.nih.gov]
  • Taking affection status as the presence of hypertrophic cardiomyopathy, left ventricular hypertrophy or elevated lyso-Gb3 levels, all affected family members carried the mutation.[ncbi.nlm.nih.gov]

Treatment

Usually, Fabry disease is treated symptomatically. Medications are given to relieve pain in the body and the limbs. Pain in Fabry disease is often difficult to treat and does not respond to most of the over-the-counter pain medications. The drugs commonly used include diphenylhydantoin, carbamezipine, gabapentin and metoclopramide. Renal manifestation of proteinuria are treated either by ACE inhibitors (Angiotensin converting enzyme inhibitors) such as captopril; or angiotensin receptor blockers such as losartan. When renal failure starts to ensue, the patient has to resort to routine dialysis. Later when both the kidneys have failed, transplant is the only option.

In recent years, Enzyme Replacement Therapy (ERT) has emerged as one of the methods to manage and treat Fabry disease [5]. The patient is given recombinant forms of alpha galactosidase; such as agalsidase alpha and beta. The iminosugar 1-deoxygalactonojirimycin (migalastat), a pharmacological chaperone, is an analog of the terminal galactose of globotriaosylceramide and a reversible inhibitor of alpha-galactosidase A, which may increase the activity of mutant variants of alpha-galactosidase A. In addition, the effect of ERT is increased.

Prognosis

The prognosis of Fabry disease (when properly treated) is very good. Most of the males have more than 80% of the normal life expectancy. Females suffering from Fabry disease have an even better life expectancy than males; most live beyond 93% of their normal life expectancy. Most of the patients require renal transplantation. Death in these patients usually occur due to complications related to the vascular system [6].

Etiology

Fabry disease is essentially a genetic disease and is caused by mutations in the GLA gene on the X chromosome. Females have two copies of this chromosome and males have one. One defective gene in males can therefore cause the full-fledged disease. In contrast, females who have one normal gene and an inherited mutated gene suffer from a much milder form of the disease, with the symptoms being far less severe. In such instances, there may be little or no symptoms of the disease.

Epidemiology

Fabry disease is a rare disease. The incidence, according to a number of surveys, lies somewhere around 1 in 40,000 live births. However, recent newborn screening showed substantially higher rates of deficient α-Gal A activities and α-Gal A mutations.

Sex distribution
Age distribution

Pathophysiology

The GLA gene normally encodes a protein enzyme named alpha galactosidase A (a-GAL). Alpha galactosidase is normally responsible for the breakdown of a lipid named globotriaosylceramide. Mutations in the GLA gene result in a deficiency or abnormal function of this enzyme. As a result, globotriaosylceramide accumulates in the cells of all the tissues of the body; most importantly in the blood vessels, kidneys, heart and nervous system. In the cells, this lipid accumulates in lysosomes, due to which Fabry disease is referred to as one of the lysosomal (lipid) storage diseases. A multitude of signs and symptoms related to various systems of the body thus ensues in this disease.

Prevention

There is no prevention of Fabry disease.

Summary

Fabry disease is a lysosomal lipid storage disease which is caused by low levels of the enzyme alpha galactosidase A. This usually occurs due to defects in the GLA gene which lies on the X chromosome. There is an accumulation of glycosphingolipids in the skin, eyes, heart, kidneys, nervous system and vascular system. This results in a large number of clinical manifestations related to all these organs. Fabry disease has no definite cure but the symptoms can be treated through various groups of drugs. The prognosis of the patients who receive treatment is very good.

Patient Information

Fabry disease is caused by low levels of an enzyme that breaks down a certain lipid in the cells of various tissues of this body. This is due to the inheritance of a mutated gene on X chromosome – one of the two sex chromosomes. As the enzyme required to break the lipid is absent, it accumulates unchecked in the skin, eyes, heart, kidneys, nervous system and circulatory system of the patient. As a result, the patient suffers from a variety of symptoms related to these organs.

Fabry disease has no definite cure. However, it is possible to treat the symptoms of the disease through various medications. People who receive proper treatment live very long and also enjoy a good quality of life.

References

Article

  1. Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey. Clin J Pain. 2007;23(6):535-542.
  2. Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007 28(10):1228-1235.
  3. Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C, Fabry Registry. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant. 2008;23(5):1600-1607.
  4. Linthorst GE, Poorthuis BJ, Hollak CE. Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results. J Am Coll Cardiol. 2008;51(21):2082.
  5. Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ. Fabry Disease: Preclinical Studies Demonstrate the Effectiveness of α-Galactosidase A Replacement in Enzyme-Deficient Mice. The American Journal of Human Genetics. 2001;68(1):14-25.
  6. MacDermot KD, Holmes A, Miners AH. Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38(11):750-760.

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Last updated: 2019-07-11 22:13