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Amyloidosis

Amyloidoses

Amyloidosis refers to a group of diseases resulting from abnormal deposition of amyloids in various tissues.


Presentation

In patients with amyloidosis, symptoms presented are as a result of the abnormality in the function of the particular organs involved [7]. Some of the organs that can be affected include the heart, kidney, liver, bowels, skin, nerves, joints and lungs. This is why symptoms are unclear. Presentations can include fatigue, dyspnea, lack of appetite, tingling, weight loss, numbness, decreased appetite, enlarged tongue and general swelling.

Depending on what organs are affected, amyloidosis can lead to cardiomyopathy, heart failure, peripheral neuropathy, arthritis, malabsorption, diarrhea, liver failure and liver damage. When amyloidosis affects the kidney, the resultant condition is nephrotic syndrome. This characterised by the loss of protein in the urine and swelling of the extremities.

Easy Bruising
  • Symptoms may include these: Difficulty breathing Fatigue Irregular heart beat Skin changes, such as easy bruising Swelling of the arms, legs and tongue Weight loss Prognosis depends on which areas of the body are affected.[rush.edu]
  • Amyloid deposits in the blood vessels of the skin can make them more fragile, leading to easy bruising. Symptoms of Amyloidosis People with this condition experience varying symptoms depending on where the amyloid deposits accumulate.[stanfordhealthcare.org]
  • bruising Amyloidosis can be determined from any of the problems listed above.[unckidneycenter.org]
  • bruising, and purplish patches around the eyes An irregular heartbeat Difficulty swallowing When to see a doctor See your doctor if you persistently experience any of the signs or symptoms associated with amyloidosis.[mayoclinic.org]
  • Typically, in amyloidosis there is a combination of symptoms affecting more than a single system - eg, fatigue, weight loss, easy bruising, breathlessness, peripheral oedema, sensory change, carpal tunnel syndrome, and postural hypotension.[patient.info]
Splenomegaly
  • PATIENT CONCERNS: We reported two cases with ApoA-1 amyloidosis, a 64-year-old man suffering from nephrotic syndrome and a 40-year-old man with nephrotic syndrome and splenomegaly.[ncbi.nlm.nih.gov]
  • Hepatomegaly occurs in 25% of patients, whereas splenomegaly is present in less than 5% and macroglossia in only 10%. Anemia is infrequent unless multiple myeloma, renal insufficiency, or gastrointestinal bleeding occurs.[circ.ahajournals.org]
  • An enlarged liver (hepatomegaly) and an enlarged spleen (splenomegaly) are the most notable signs.[rarediseases.org]
  • Extrarenal manifestations include liver dysfunction, peripheral neuropathy, cardiac failure, arrhythmias, hepato-splenomegaly, and macroglossia.[kidneypathology.com]
Pain
  • At the conclusion of two cycles she had achieved an amyloid complete-hematologic response, with her recurring ileus and abdominal pain significantly improved.[ncbi.nlm.nih.gov]
  • CASE PRESENTATION: In this case report, we describe a 56-year-old man who presented with recurrent periumbilical pain for 4 months and gradually worsened over a month.[ncbi.nlm.nih.gov]
  • Tell your doctor or nurse right away if you experience any of the following signs of an infusion-related reaction during treatment: • Reddening of the face or body (flushing), skin warm • Body aches or pain, including pain in the back, neck, or joints[alnylam.com]
  • Furthermore, in patients with oral amyloidosis, lesions in areas of trauma may ulcerate and cause pain and dysphagia becoming necessary periodic surgical removal and regular follow-up of these patients.[ncbi.nlm.nih.gov]
  • A 67-year-old woman who had previously been treated for rheumatoid arthritis presented with abdominal pain and diarrhea. Right renal cell carcinoma was found, and amyloid A amyloidosis was diagnosed concomitantly based on colon biopsy.[ncbi.nlm.nih.gov]
Weakness
  • Sixteen months into treatment, he developed bilateral lower-extremity weakness and numbness, worsening balance, difficulty manipulating objects with his hands, and finger numbness.[ncbi.nlm.nih.gov]
  • CASE DESCRIPTION: A 53 year-old man presented with a 2-year history of progressive symptoms including upper and lower limb weakness, ataxia, and peripheral and autonomic neuropathy.[ncbi.nlm.nih.gov]
  • […] the legs are affected include: Swelling of the feet or legs Leg weakness Weak toenails Symptoms indicating the head and neck are affected include: Lighheadedness upon standing Purple color on the eyelids and/or around they eyes Enlarged tongue Symptoms[my.clevelandclinic.org]
  • weakness Sudden weight loss Cardiac (Heart) Amyloidosis Amyloid deposits in the heart can make the walls of the heart muscle stiff.[webmd.com]
  • ) An irregular heartbeat Diarrhea alternating with constipation Difficulty swallowing Dizziness or feeling faint Loss of weight Numbness or tingling in the hands or feet Severe fatigue Shortness of breath Skin changes Swelling of the ankles and legs Weakness[cedars-sinai.edu]
Fatigue
  • After one year, her symptoms of fatigue became worse, and her proteinuria increased.[ncbi.nlm.nih.gov]
  • Patients usually exhibit symptoms of congestive heart failure, including: Shortness of breath Labored breathing during exercise Peripheral swelling ( edema caused by a buildup of fluid in the lower limbs) Fainting ( syncope ) Generalized fatigue The mutation[pfizer.com]
  • The most common symptoms are shortness of breath, fatigue, swelling of the ankles and legs, dizziness when standing, abdominal fullness especially after eating, diarrhea, weight loss, enlarged tongue, numbness of the arms and legs, and protein in the[froedtert.com]
  • Usually presents with unexplained weight loss, fatigue, and oedema resistant to diuretic therapy. Immunofixation of the serum and urine confirms the presence of monoclonal light chains in primary systemic amyloidosis.[bestpractice.bmj.com]
  • Symptoms to watch for include decreased urine output, difficulty breathing, swelling in the ankles or other body parts that does not subside, severe fatigue or weakness, diarrhea (possibly with blood) or constipation, an enlarged tongue, thickened or[houstonmethodist.org]
Swelling
  • Physical examination revealed puffy eyes, moderate swelling up to 1 cm of the upper left eyelid, swollen submental region, and protrusion of the tongue, causing an inability to close the mouth.[ncbi.nlm.nih.gov]
  • We report a 60-year-old man who presented to the Royal Hospital, Muscat, Oman, in 2017 with a history of shortness of breath upon exertion, orthopnoea and bilateral lower limb swelling. A chest X-ray showed bilateral nodular opacities.[ncbi.nlm.nih.gov]
  • On physical examination, joint swelling was observed at bilateral wrists, knees, ankles, and hip joints. Laboratory tests revealed elevation of serum inflammatory markers and β2-microglobulin (β2-MG).[ncbi.nlm.nih.gov]
  • Also call if you have been diagnosed with this disease and have: Decreased urine Difficulty breathing Swelling of the ankles or other body parts that does not go away There is no known prevention for primary amyloidosis.[medlineplus.gov]
  • Here we reported a case of conjunctival amyloidosis in a 52 year-old male patient who was presented with left lower eyelid swelling to our medical center.[ncbi.nlm.nih.gov]
Weight Loss
  • MGUS and myeloma patients that have atypical features, including unexplained weight loss; lower extremity edema, early satiety, and dyspnea on exertion should be considered at risk for light chain amyloidosis.[ncbi.nlm.nih.gov]
  • Amyloidosis should be considered in patients with proteinuria, cardiomyopathy, hepatomegaly (with mildly abnormal liver tests), peripheral and autonomic neuropathy, weight loss, and GI symptoms.[ncbi.nlm.nih.gov]
  • A 43-year-old female with light-chain amyloidosis and concomitant multiple myeloma presented with severe bowel dysmotility causing abdominal pain, anemia, and a 100-pound unintentional weight loss.[ncbi.nlm.nih.gov]
  • The clinical manifestations of amyloidosis were similar between patients and consisted of peripheral neuropathy, diarrhea and weight loss.[ncbi.nlm.nih.gov]
  • Usually presents with unexplained weight loss, fatigue, and oedema resistant to diuretic therapy. Immunofixation of the serum and urine confirms the presence of monoclonal light chains in primary systemic amyloidosis.[bestpractice.bmj.com]
Hoarseness
  • Fatigue Numbness of hands or feet Shortness of breath Skin changes Swallowing problems Swelling in the arms and legs Swollen tongue Weak hand grip Weight loss or weight gain Other symptoms that may occur with this disease: Decreased urine output Diarrhea Hoarseness[medlineplus.gov]
  • Amyloid in soft tissues can lead to macroglossia, hoarseness, salivary gland or submandibular gland enlargement, subcutaneous nodules, lymphadenopathy, or arthropathy.[clinicaladvisor.com]
  • Deposition of amyloid in the throat can cause hoarseness.[en.wikipedia.org]
  • The patient presented with increased shortness of breath and hoarseness on the most recent hospital admission. There was no past medical history of renal failure or multiple myeloma.[ajnr.org]
  • […] lower extremities; cough and breathing problems when lying flat, shortness of breath on climbing stairs or an incline, and dizziness on standing, swelling of the legs, swallowing difficulties, bleeding into the skin, enlarged tongue, joint pain, and hoarseness[tuftsmedicalcenter.org]
Dyspnea
  • MGUS and myeloma patients that have atypical features, including unexplained weight loss; lower extremity edema, early satiety, and dyspnea on exertion should be considered at risk for light chain amyloidosis.[ncbi.nlm.nih.gov]
  • Presentations can include fatigue, dyspnea, lack of appetite, tingling, weight loss, numbness, decreased appetite, enlarged tongue and general swelling.[symptoma.com]
  • Weakness, fatigue, weight loss, edema, paresthesias, light-headedness or syncope, dyspnea, purpura or bleeding, or change in the voice are the most common symptoms.[circ.ahajournals.org]
  • The most common adverse reactions reported by patients treated with Onpattro are infusion-related reactions including flushing, back pain, nausea, abdominal pain, dyspnea (difficulty breathing) and headache.[fda.gov]
  • Patients often have dyspnea on exertion, edema, anorexia, hoarseness, difficulty swallowing, tongue enlargement, lightheadedness, or sensory neuropathy, usually in the feet.[clinicaladvisor.com]
Pleural Effusion
  • KEYWORDS: Congo red; amyloidosis; pleural effusion[ncbi.nlm.nih.gov]
  • Fluid collecting in the pleural space (pleural effusion) is quite common in patients with congestive heart failure due to amyloidosis, but large recurrent pleural effusions disproportionate to the degree of heart failure suggest pleural amyloidosis.[rarediseases.org]
  • Persistent pleural effusions in primary systemic amyloidosis: etiology and prognosis. Chest. 2003; 124 969-977 17 Blade J, Samson D, Reece D, Apperley J, Bjorkstrand B, Gahrton G, Gertz M, Giralt S, Jagannath S, Vesole D.[doi.org]
Labored Breathing
  • Patients usually exhibit symptoms of congestive heart failure, including: Shortness of breath Labored breathing during exercise Peripheral swelling ( edema caused by a buildup of fluid in the lower limbs) Fainting ( syncope ) Generalized fatigue The mutation[pfizer.com]
Diarrhea
  • […] light chain amyloidosis (AL) should be considered in any patient that presents to a cancer care provider with nephrotic range proteinuria, heart failure with preserved ejection fraction, non-diabetic peripheral neuropathy, unexplained hepatomegaly or diarrhea[ncbi.nlm.nih.gov]
  • A 67-year-old woman who had previously been treated for rheumatoid arthritis presented with abdominal pain and diarrhea. Right renal cell carcinoma was found, and amyloid A amyloidosis was diagnosed concomitantly based on colon biopsy.[ncbi.nlm.nih.gov]
  • The symptoms include diarrhea, steatorrhea, or constipation. Pseudo-obstruction carries a particularly grave prognosis, often not responding to pro-motility agents.[ncbi.nlm.nih.gov]
  • The clinical manifestations of amyloidosis were similar between patients and consisted of peripheral neuropathy, diarrhea and weight loss.[ncbi.nlm.nih.gov]
  • Symptoms include: An enlarged liver An enlarged tongue (macroglossia) An irregular heartbeat Diarrhea alternating with constipation Difficulty swallowing Dizziness or feeling faint Loss of weight Numbness or tingling in the hands or feet Severe fatigue[cedars-sinai.edu]
Constipation
  • The symptoms include diarrhea, steatorrhea, or constipation. Pseudo-obstruction carries a particularly grave prognosis, often not responding to pro-motility agents.[ncbi.nlm.nih.gov]
  • CASE REPORT A 68-year-old female presented with symptoms of partial bowel obstruction, including intermittent diffuse abdominal pain and constipation.[ncbi.nlm.nih.gov]
  • Symptoms include: An enlarged liver An enlarged tongue (macroglossia) An irregular heartbeat Diarrhea alternating with constipation Difficulty swallowing Dizziness or feeling faint Loss of weight Numbness or tingling in the hands or feet Severe fatigue[cedars-sinai.edu]
  • Symptoms to watch for include decreased urine output, difficulty breathing, swelling in the ankles or other body parts that does not subside, severe fatigue or weakness, diarrhea (possibly with blood) or constipation, an enlarged tongue, thickened or[houstonmethodist.org]
  • Enlarged tongue Symptoms indicating the heart and lungs are affected include: Shortness of breath Palpitations (arrhythmias) Chest pain Fatigue Symptoms indicating the stomach or intestines are affected include: Poor appetite Bloating or excessive gas Constipation[my.clevelandclinic.org]
Nausea
  • If your gastrointestinal tract is affected, you may experience: nausea diarrhea constipation appetite loss weight loss feeling of fullness right after eating If your nerves are affected, you may experience: pain, numbness, and tingling in your hands,[healthline.com]
  • If patients experience nausea and/or vomiting, consider using the low antiemetic prophylaxis regimen.[eviq.org.au]
  • […] or nurse right away if you experience any of the following signs of an infusion-related reaction during treatment: • Reddening of the face or body (flushing), skin warm • Body aches or pain, including pain in the back, neck, or joints • Feeling sick (nausea[alnylam.com]
  • If amyloidosis affects your GI tract, you may have: Less appetite Diarrhea Nausea Stomach pain Weight loss If your liver is affected, that can cause liver enlargement and fluid buildup in the body.[webmd.com]
  • […] people, 16.00% Lasix: 3 people, 12.00% Procardia: 2 people, 8.00% Pomalyst: 2 people, 8.00% Zyrtec: 1 person, 4.00% Lisinopril: 1 person, 4.00% Darzalex: 1 person, 4.00% Diovan: 1 person, 4.00% Flomax: 1 person, 4.00% Top symptoms for these people *: Nausea[ehealthme.com]
Abdominal Pain
  • At the conclusion of two cycles she had achieved an amyloid complete-hematologic response, with her recurring ileus and abdominal pain significantly improved.[ncbi.nlm.nih.gov]
  • A 67-year-old woman who had previously been treated for rheumatoid arthritis presented with abdominal pain and diarrhea. Right renal cell carcinoma was found, and amyloid A amyloidosis was diagnosed concomitantly based on colon biopsy.[ncbi.nlm.nih.gov]
  • CASE REPORT A 68-year-old female presented with symptoms of partial bowel obstruction, including intermittent diffuse abdominal pain and constipation.[ncbi.nlm.nih.gov]
  • The most common adverse reactions reported by patients treated with Onpattro are infusion-related reactions including flushing, back pain, nausea, abdominal pain, dyspnea (difficulty breathing) and headache.[fda.gov]
  • Sephardic Jews and Turks inherit a genetic disease called familial Mediterranean fever, which is associated with amyloidosis and characterized by episodes of "attacks" of fever, joint, and abdominal pains.[medicinenet.com]
Steatorrhea
  • The symptoms include diarrhea, steatorrhea, or constipation. Pseudo-obstruction carries a particularly grave prognosis, often not responding to pro-motility agents.[ncbi.nlm.nih.gov]
  • : (1) the absence of a monoclonal protein in the serum or urine and (2) patients with senile cardiac amyloidosis do not have extracardiac manifestations such as renal insufficiency, nephrotic syndrome, peripheral neuropathy, orthostatic hypotension, steatorrhea[circ.ahajournals.org]
Macroglossia
  • We report an uncommon case presenting initially with both ptosis and macroglossia, for which a final diagnosis of systemic AL amyloidosis was made.[ncbi.nlm.nih.gov]
  • The aim of this report is to describe a clinical case of an elderly patient with dysphagia related to macroglossia and enlargement caused by primary amyloidosis associated with multiple myeloma.[ncbi.nlm.nih.gov]
  • Two patients were referred to the Oral Medicine Clinic due to the presence of multiple nodules on the tongue and macroglossia.[ncbi.nlm.nih.gov]
  • The presentation is protean, including macroglossia, a dilated and atonic esophagus, gastric polyps or enlarged folds, and luminal narrowing or ulceration of the colon.[ncbi.nlm.nih.gov]
  • Symptoms include: An enlarged liver An enlarged tongue (macroglossia) An irregular heartbeat Diarrhea alternating with constipation Difficulty swallowing Dizziness or feeling faint Loss of weight Numbness or tingling in the hands or feet Severe fatigue[cedars-sinai.edu]
Xerostomia
  • Areas of swelling, hemorrhages under the skin (purpura), hair loss (alopecia), inflammation of the tongue (glossitis) and a dry mouth (xerostomia) may also be present.[rarediseases.org]
Heart Failure
  • The clinical presentation of ATTR A45G amyloidosis in the affected family members was heart failure due to a late-onset cardiomyopathy.[ncbi.nlm.nih.gov]
  • TTR-CM results when amyloid build up in the myocardium, or heart muscles, and results in heart failure. It comes in two forms: familial amyloid cardiomyopathy (TTR-FAC) and age-related, or senile, amyloidosis.[pfizer.com]
  • CASE REPORT Our report describes a middle-aged man who presented to the Emergency Department with congestive heart failure.[ncbi.nlm.nih.gov]
  • This patient was considered as having cardiac amyloidosis in the absence of other cause of heart failure ( Table 1 ).[doi.org]
  • Immunoglobulin light chain amyloidosis (AL) should be considered in any patient that presents to a cancer care provider with nephrotic range proteinuria, heart failure with preserved ejection fraction, non-diabetic peripheral neuropathy, unexplained hepatomegaly[ncbi.nlm.nih.gov]
Heart Disease
  • The use of highly sensitive echocardiographic techniques for distinguishing cardiac amyloidosis from other forms of heart disease and the evaluation of coronary blood flow in both AL and TTR amyloidosis.[brighamandwomens.org]
  • While the rare primary amyloidosis–related heart disease has been well characterized, senile amyloidosis occurring in the seventh decade of life most frequently affects the heart.[doi.org]
  • For example, some people will have heart disease, but no problems with their nerves (or only very mild problems with their nerves).[thinkgenetic.com]
  • Raising awareness among clinicians about this type of neuropathy and lethal form of heart disease is critical for improving earlier diagnosis and the identification of patients for treatment.[clinsci.org]
  • Amyloid heart disease. Progress in Cardiovascular Diseases. 2010;52:347-361. Comenzo RL. How I treat amyloidosis. Blood 2009;114:3147-57 Palladini G, Merlini G. Current treatment of AL amyloidosis. Haematologica 2009; 94:1044-1048. Dember L.[web.archive.org]
Hypertension
  • We report here a case of portal hypertension, ascites, and severe intrahepatic cholestasis as the initial presentation of hepatic amyloidosis and multiple myeloma, which followed a rapidly progressive clinical course.[ncbi.nlm.nih.gov]
  • Author information 1 Division of Nephrology and Hypertension, Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA. Electronic address: leung.nelson@mayo.edu.[ncbi.nlm.nih.gov]
  • Our primary aim was to analyse the right ventricle (RV) in patients with IWT to discriminate AL amyloidosis from IWT due to hypertrophic cardiomyopathy (HCM) or to arterial hypertension (HTN).[ncbi.nlm.nih.gov]
  • Phone: 617-636-5866 Fax #: 617-636-2369 Kidney function evaluation (GFR), chronic kidney disease (CKD), diabetic kidney disease, glomerular disease, systemic lupus erythematosus, vasculitis, hypertension, cardiovascular disease in patients with kidney[tuftsmedicalcenter.org]
  • Cardiac amyloidosis often goes undiagnosed, especially in its earliest stages, when symptoms—including shortness of breath, swelling in the legs, or cardiac arrhythmias, such as atrial fibrillation —are mistaken for those of hypertensive heart disease[nyulangone.org]
Hypotension
  • There were 2 adverse events: tubing rupture on the Optia; and one case of hypotension. All 18 patients underwent high-dose chemotherapy: median cell dose infused was 7.7   10 6 CD34 cells/kg.[ncbi.nlm.nih.gov]
  • Kidney failure Nephrotic syndrome (group of symptoms that includes protein in the urine, low blood protein levels in the blood, high cholesterol levels, high triglyceride levels, and swelling throughout the body) Nerve problems (neuropathy) Orthostatic hypotension[medlineplus.gov]
  • Adrenal infiltration may be harder to appreciate given that its symptoms of orthostatic hypotension and low blood sodium concentration may be attributed to autonomic neuropathy and heart failure."[en.wikipedia.org]
  • In later stages of the disease severe diarrhea with malabsorption, cachexia, incapacitating neuropathy, severe cardiac disturbances, and marked orthostatic hypotension dominate the clinical picture.[flybase.org]
  • Typically, in amyloidosis there is a combination of symptoms affecting more than a single system - eg, fatigue, weight loss, easy bruising, breathlessness, peripheral oedema, sensory change, carpal tunnel syndrome, and postural hypotension.[patient.info]
Orthostatic Hypotension
  • hypotension (drop in blood pressure when you stand up) Symptoms depend on the organs affected.[medlineplus.gov]
  • Adrenal infiltration may be harder to appreciate given that its symptoms of orthostatic hypotension and low blood sodium concentration may be attributed to autonomic neuropathy and heart failure."[en.wikipedia.org]
  • In later stages of the disease severe diarrhea with malabsorption, cachexia, incapacitating neuropathy, severe cardiac disturbances, and marked orthostatic hypotension dominate the clinical picture.[flybase.org]
  • hypotension are the most common presenting features.[circ.ahajournals.org]
  • Orthostatic hypotension and obliteration of sympathetic input preclude use of negative inotropic agents.[doi.org]
Hepatomegaly
  • Amyloidosis should be considered in patients with proteinuria, cardiomyopathy, hepatomegaly (with mildly abnormal liver tests), peripheral and autonomic neuropathy, weight loss, and GI symptoms.[ncbi.nlm.nih.gov]
  • Immunoglobulin light chain amyloidosis (AL) should be considered in any patient that presents to a cancer care provider with nephrotic range proteinuria, heart failure with preserved ejection fraction, non-diabetic peripheral neuropathy, unexplained hepatomegaly[ncbi.nlm.nih.gov]
  • Cardiac amyloidosis causes an infiltrative restrictive cardiomyopathy leading to progressive heart failure. [ 8 ] Marked hepatomegaly with kidney disease: Hepatic amyloid disease produces hepatomegaly, but rarely jaundice.[patient.info]
  • Hepatomegaly is common and can occur as a result of either congestion from right heart failure or amyloid infiltration of the liver.[doi.org]
  • Hepatomegaly occurs in 25% of patients, whereas splenomegaly is present in less than 5% and macroglossia in only 10%. Anemia is infrequent unless multiple myeloma, renal insufficiency, or gastrointestinal bleeding occurs.[circ.ahajournals.org]
Purpura
  • Although rare, cutaneous manifestations may be the first clinical sign of the disease and usually present as hemorrhagic lesions, such as purpura, petechiae, and ecchymosis.[ncbi.nlm.nih.gov]
  • Weakness, fatigue, weight loss, edema, paresthesias, light-headedness or syncope, dyspnea, purpura or bleeding, or change in the voice are the most common symptoms.[circ.ahajournals.org]
  • Areas of swelling, hemorrhages under the skin (purpura), hair loss (alopecia), inflammation of the tongue (glossitis) and a dry mouth (xerostomia) may also be present.[rarediseases.org]
  • […] amyloid deposits in the tips of intestinal villi (fingerlike projections that increase the intestinal area available for absorption of food), begin to erode the functionality of the villi, presenting a sprue-like picture.A rare development is amyloid purpura[en.wikipedia.org]
  • Blood diseases involving destruction by the body's own immune system of platelets are also treated with dexamethasone, disease like idiopathic thrombocytopenia purpura, and red blood cells (autoimmune hemolytic anemia.[medicinenet.com]
Skin Lesion
  • Skin lesions: Spontaneous periorbital purpura - racoon eye sign. A firm, symmetrical, non-tender goitre resembling Hashimoto's thyroiditis may result from amyloidosis of the thyroid gland.[patient.info]
  • In forms secondary to chronic inflammation the associated disease usually is evident: infections, skin lesions, collagen diseases, chronic inflammatory bowel disease, non-hematolymphoid tumors, and so on.[kidneypathology.com]
Papule
  • A 49-year-old woman who has been treated irregularly for atopic dermatitis for 7 years presented with localized brownish papules on the left forearm and right elbow.[ncbi.nlm.nih.gov]
Petechiae
  • Although rare, cutaneous manifestations may be the first clinical sign of the disease and usually present as hemorrhagic lesions, such as purpura, petechiae, and ecchymosis.[ncbi.nlm.nih.gov]
Arthritis
  • It is secondary to rheumatoid arthritis, which is difficult to manage and has a poor prognosis.[ncbi.nlm.nih.gov]
  • Funding and Disclosures Supported by grants from the National Institutes of Health (AR 20613, AR 40414) and the Food and Drug Administration (FD-R-001346), the Arthritis Foundation, and the Amyloid Research and Sue Sellors Finley Cardiac Amyloid Research[doi.org]
  • Depending on what organs are affected, amyloidosis can lead to cardiomyopathy, heart failure, peripheral neuropathy, arthritis, malabsorption, diarrhea, liver failure and liver damage.[symptoma.com]
  • Some of the conditions associated with AA include the following: Rheumatoid arthritis (RA) [10] Alzheimer disease [11] Multiple myeloma [12] Juvenile idiopathic arthritis [13] Ankylosing spondylitis [14] Psoriasis and psoriatic arthritis [15] Still disease[emedicine.com]
Arthralgia
  • Clinical features : The most frequent manifestations include cutaneous purpura and urticaria; in many cases there are weakness and arthralgias. Skin biopsy demonstrates leukocytoclastic vasculitis of small vessels.[kidneypathology.com]
  • Scores on the mNIS 7 and the QOL-DN showed improvement in those receiving inotersen (P 0.001). [101] Doxycycline A pilot study demonstrated reduction in arthralgia and increased range of motion with doxycycline treatment.[emedicine.com]
Swelling of Hand
  • As a result, symptoms and signs are vague and can include fatigue, shortness of breath, weight loss, lack of appetite, numbness, tingling, carpal tunnel syndrome, weakness, hearing loss, enlarged tongue, bruising, and swelling of hands and feet.[medicinenet.com]
Kidney Failure
  • Kidney failure Most people with AL amyloidosis have a build-up of amyloid proteins (amyloid deposits) in their kidneys, and are at risk of kidney failure.[nhs.uk]
  • Complications such as heart failure, kidney failure, and other problems can sometimes be treated, when needed. How well you do depends on which organs are affected. Heart and kidney involvement may lead to organ failure and death.[medlineplus.gov]
  • When the kidneys become too damaged, they may no longer be able to function well enough to maintain health, resulting in kidney failure.[niddk.nih.gov]
  • It can lead to several conditions, including carpal tunnel syndrome, congestive heart failure and kidney failure.[rush.edu]
Peripheral Neuropathy
  • Immunoglobulin light chain amyloidosis (AL) should be considered in any patient that presents to a cancer care provider with nephrotic range proteinuria, heart failure with preserved ejection fraction, non-diabetic peripheral neuropathy, unexplained hepatomegaly[ncbi.nlm.nih.gov]
  • Transthyretin amyloidosis patients develop length-dependent peripheral neuropathy, autonomic dysfunction, and restrictive cardiomyopathy associated with deposition of amyloid fibrils in these tissues.[ncbi.nlm.nih.gov]
  • The clinical manifestations of amyloidosis were similar between patients and consisted of peripheral neuropathy, diarrhea and weight loss.[ncbi.nlm.nih.gov]
  • AL amyloidosis can affect many organs, resulting in the following signs and symptoms: Symptoms indicating the arms are affected include: Carpal tunnel syndrome Numbness, buring and/or tingling (peripheral neuropathy) Weak fingernails Symptoms indicating[my.clevelandclinic.org]
  • Depending on what organs are affected, amyloidosis can lead to cardiomyopathy, heart failure, peripheral neuropathy, arthritis, malabsorption, diarrhea, liver failure and liver damage.[symptoma.com]
Tingling
  • Symptoms include: An enlarged liver An enlarged tongue (macroglossia) An irregular heartbeat Diarrhea alternating with constipation Difficulty swallowing Dizziness or feeling faint Loss of weight Numbness or tingling in the hands or feet Severe fatigue[cedars-sinai.edu]
  • Nerve damage: When amyloid builds up in nerves and damages them, you might feel sensations like numbness or tingling in your fingers and toes.[healthline.com]
  • […] swelling in the ankles or other body parts that does not subside, severe fatigue or weakness, diarrhea (possibly with blood) or constipation, an enlarged tongue, thickened or bruised skin, purple patches around the eyes, an irregular heartbeat or numbness/tingling[houstonmethodist.org]
  • AL amyloidosis can affect many organs, resulting in the following signs and symptoms: Symptoms indicating the arms are affected include: Carpal tunnel syndrome Numbness, buring and/or tingling (peripheral neuropathy) Weak fingernails Symptoms indicating[my.clevelandclinic.org]
  • You may experience pain, numbness or tingling of the fingers or numbness, lack of feeling or a burning sensation in your toes or the soles of your feet.[mayoclinic.org]
Dizziness
  • The predominant symptoms included headaches, dizziness, vomiting, hallucinations, and cognitive impairments which associated with obstructive hydrocephalus.[ncbi.nlm.nih.gov]
  • Disruption of the nervous system Dizziness or nearly fainting when standing up too quickly. This can happen if the condition affects the nerves that control blood pressure and a sudden drop in blood pressure occurs when standing up.[cedars-sinai.edu]
  • Symptoms are numbness and tingling in the arms and legs, dizziness when standing and diarrhea. Family members can be affected differently despite having the same genetic mutation. ATTR has the potential to be cured with liver transplantation.[froedtert.com]
  • […] flushing), skin warm • Body aches or pain, including pain in the back, neck, or joints • Feeling sick (nausea) • Stomach pain • Feeling short of breath, cough, or other breathing problems • Headache • Chest discomfort or chest pain • Rash • Chills • Dizziness[alnylam.com]
  • Common signs and symptoms of amyloid involvement in the heart include: Dizziness Fainting Fatigue Fluid retention Low blood pressure Shortness of breath Heart complications are the most common cause of death in patients with amyloidosis.[stanfordhealthcare.org]
Paresthesia
  • She received molecular diagnosis at age 24 and presented at age 26 with paresthesias of the lower limbs and bowel dysfunction. Echography showed minimal amyloid opacities in the corpus vitreum. Treatment with tafamidis meglumine was started.[ncbi.nlm.nih.gov]
  • Weakness, fatigue, weight loss, edema, paresthesias, light-headedness or syncope, dyspnea, purpura or bleeding, or change in the voice are the most common symptoms.[circ.ahajournals.org]
  • AL amyloidosis should be suspected in any patient with a monoclonal gammopathy and unexplained shortness of breath, fatigue, edema, weight loss, orthostasis or paresthesias (Table 1 )[ 5 ].[doi.org]

Workup

To diagnosis amyloidosis, the presence of the characteristic amyloid protein needs to be established. A biopsy specimen of the involved tissue is required to establish this. This may be obtained from the mouth, rectum, fat, kidney, heart or liver [8]. The presence of the protein in a biopsy specimen can be examined with a special dye known as the Congo red stain.

Pericardial Effusion
  • The echocardiogram was characterized by increased ventricular wall thickness in the absence of hypertension, thickening of the valves, regurgitation, and pericardial effusion. Endomyocardial biopsy revealed amyloid.[circ.ahajournals.org]
Thrombocytosis
  • Thrombocytosis is a diagnostic clue and occurs in 10%. Reduced renal function is present at diagnosis in 50% of patients.[circ.ahajournals.org]
Elevated Sedimentation Rate
  • Clinical presentation include anemia, elevated sedimentation rate, increased serum proteins, fatigue, weakness, recurring bleeding, lymphadenopathy, splenomegaly, high serum viscosity, and decreased fibrinogen.[kidneypathology.com]
Creatinine Increased
  • There is serum creatinine increase in until half of the cases. Sometimes there are urine concentration defects due to tubulointerstitial deposits of amyloid.[kidneypathology.com]
Amyloid Plaque
  • Because of this close link, gradual accumulation of A β into amyloid plaques has been reported in brain areas with intense neuronal activity, including cortical regions that display elevated activation at resting state.[ncbi.nlm.nih.gov]
  • Ultrastructural analysis confirmed the presence of cortical amyloid plaques (Panel L, with magnification shown in inset).[doi.org]
  • Note that in Alzheimer’s disease, there are “amyloid plaques” in the brain, but these are not formed from light chains, and AL patients have no increased susceptibility to Alzheimer’s disease, compared with the general population.[amyloidosis.org]
  • ApoAI (likely of normal sequence) is the fibril precursor in localized amyloid plaques in the aortae of elderly people.[emedicine.com]
Ventricular Hypertrophy
  • Levy D, Anderson KM, Savage DD et al (1988) Echocardiographically detected left ventricular hypertrophy: prevalence and risk factors. The Framingham Heart Study. Ann Intern Med 108:7–13 PubMed Google Scholar 19.[doi.org]
  • There was no evidence of left ventricular hypertrophy. The chest radiograph did not show any evidence of acute disease or cardiomegaly.[anesthesiology.pubs.asahq.org]
  • hypertrophy. 70 Both atria are typically dilated and the ventricular chamber dimensions are normal.[doi.org]
  • In the 12 AL patients, left ventricular hypertrophy (without obvious cause of increased left ventricular load) and septal thickening were present in 11 (91.6%) and nine (75%) patients, respectively. Two AL patients had systolic dysfunction.[doi.org]
  • hypertrophy caused by hypertension ( 30, 31 ).[doi.org]
Left Ventricular Hypertrophy
  • Levy D, Anderson KM, Savage DD et al (1988) Echocardiographically detected left ventricular hypertrophy: prevalence and risk factors. The Framingham Heart Study. Ann Intern Med 108:7–13 PubMed Google Scholar 19.[doi.org]
  • There was no evidence of left ventricular hypertrophy. The chest radiograph did not show any evidence of acute disease or cardiomegaly.[anesthesiology.pubs.asahq.org]
  • ventricular hypertrophy. 70 Both atria are typically dilated and the ventricular chamber dimensions are normal.[doi.org]
  • In the 12 AL patients, left ventricular hypertrophy (without obvious cause of increased left ventricular load) and septal thickening were present in 11 (91.6%) and nine (75%) patients, respectively. Two AL patients had systolic dysfunction.[doi.org]
Biventricular Hypertrophy
  • Cardiac amyloidosis masquerading as biventricular hypertrophy in a patient with multiple myeloma. BMJ Case Rep. 2013 Jul 29. 2013: [Medline]. Saha A, Chopra Y, Theis JD, Vrana JA, Sethi S.[emedicine.com]
Pleural Effusion
  • KEYWORDS: Congo red; amyloidosis; pleural effusion[ncbi.nlm.nih.gov]
  • Fluid collecting in the pleural space (pleural effusion) is quite common in patients with congestive heart failure due to amyloidosis, but large recurrent pleural effusions disproportionate to the degree of heart failure suggest pleural amyloidosis.[rarediseases.org]
  • Persistent pleural effusions in primary systemic amyloidosis: etiology and prognosis. Chest. 2003; 124 969-977 17 Blade J, Samson D, Reece D, Apperley J, Bjorkstrand B, Gahrton G, Gertz M, Giralt S, Jagannath S, Vesole D.[doi.org]

Treatment

Normally, treatment of amyloidosis involves correction of organ failure. This ensures the treatment of any underlying illness like multiple myeloma, infection or inflammation [9]. The condition is most of the time, discovered after extensive organ damage has been done. This is why treatment is initially targeted at stabilizing the function of the affected organ. In systemic amyloidosis, kidney failure is the most common cause of death.

Treatment generally includes chemotherapy agents that are used for certain cancers and dexamethasone for its anti-inflammatory actions.

A treatment procedure that is still in its early stages is the combination of melphalan, a cancer chemotherapy medication and bone-marrow stem cell transplant. The results from this treatment method have been promising in patients with uncomplicated underlying medical condition. These aggressive treatment options with stem-cell transplantation and high doses of chemotherapy have been hailed as amazing breakthrough for the treatment of patients with amyloidosis.

Familial amyloidosis can be treated with liver transplantation [10]. This treatment however, requires accurate diagnosis of the specific protein that is guilty of causing the disease.

Dialysis amyloidosis can be treated also with the aid of kidney transplantation.

Prognosis

The prognosis is dependent on the form of amyloidosis as well as general response to treatment. Systemic amyloidosis progresses slowly but if left untreated, it could prove fatal [6]. Some forms of amyloidosis like familial amyloidosis have an average survival span of 15 years while others have a survival span of as short as one year. Generally, outlook is dependent on the vital organ that is involved.

Etiology

Amyloidosis is caused by changes in proteins that make them insoluble. This in turn, makes them to become deposited in organs and tissues. The amyloid proteins build up mostly in the tissue space between cells [3]. Gene mutation is the main reason why proteins change from normal proteins to amyloid proteins.

Epidemiology

The condition is a rare disease with an incidence of 1 to 5 cases per 100,000 people each year around the world [4].

Sex distribution
Age distribution

Pathophysiology

The body’s cells make proteins in different ways. Some of the cells make proteins in one piece while other cells make only protein fragments. The fragments often join together to form the complete protein. However, such protein can sometimes fall apart, going back to just fragments. This is what is seen with proteins that cause amyloidosis [5]. The disintegrated fragment becomes insoluble and gets deposited in unnatural sites.

The full pathophysiological pathway of the amyloidosis is however dependent on the type of amyloidosis.

Prevention

There is no clear method of preventing amyloidosis.

However, secondary forms of amyloidosis can be prevented following treatment of underling diseases that are associated with inflammation. For familial amyloidosis, genetic counselling is very important.

Summary

Amyloidosis refers to a group of diseases which arise following the abnormal deposition of proteins in certain body tissues [1]. The abnormally deposited proteins are referred to as amyloid.

Depending on the structure of the amyloid, the protein can either accumulate in a certain tissue or be widespread therefore affecting different organs and tissues. There are 30 documented amyloid proteins today.

Amyloid proteins can be deposited in a localized area. In this situation, it may not be harmful. If it is deposited in a single tissue, it may impair certain functions in the body. This is known as localised amyloidosis. Systemic amyloidosis is seen when the proteins are deposited all over the body. Systemic amyloidosis can bring about extensive changes in just about any organs of the body including the heart, kidneys and lungs.

There are different kinds of amyloidosis. They include [2]:

Primary amyloidosis (AL)

  • This occurs without any known cause however, it is seen in people affected by multiple myeloma

Dialysis-related amyloidosis (Abeta2M)

  • This kind of amyloidosis is seen in older people who have been on dialysis for at least a period of 5 years. 

Secondary amyloidosis (AA)

Familial or hereditary amyloidosis (ATTR)

  • This type of amyloidosis is rare and it is replicated across families. It is generally caused by an abnormal amyloid protein known as the transethyrin (TTR). This protein is made in the liver

Senile systemic amyloidosis (AS)

  • This arises following the deposition of normal TTR in the heart and other tissues. It is seen most commonly in older men. 

Organ-specific amyloidosis

  • This is caused by the deposition of amyloid protein in single organs. The skin is affected the most. 

Patient Information

Amyloidosis is a rare disease that occurs when a substance known as amyloid builds up in any of the body organs. Amyloid is an abnormal protein that is produced in the bone marrow but can get deposited in any tissue or organ.

Amyloidosis can affect different organs in different patients and there are different kinds of amyloid based on the organs affected. However, the common organs affected are the digestive tract, the nervous system, spleen, liver, kidney and heart. Severe cases of amyloidosis can lead to life-threatening organ failure.

There is no known complete cure for amyloidosis rather treatment is focused on helping you manage the symptoms and the limiting of the production of amyloid protein.

References

Article

  1. Chiti F, Dobson CM. Protein misfolding, functional amyloid, and human disease. Annu Rev Biochem. 2006;75:333-66.
  2. Fandrich M, Meinhardt J, Grigorieff N. Structural polymorphism of Alzheimer Abeta and other amyloid fibrils. Prion. Apr-Jun 2009;3(2):89-93.
  3. Fandrich M. On the structural definition of amyloid fibrils and other polypeptide aggregates. Cell Mol Life Sci. Aug 2007;64(16):2066-78.
  4. Westermark P, Benson MD, Buxbaum JN, Cohen AS, Frangione B, Ikeda S, et al. A primer of amyloid nomenclature. Amyloid. Sep 2007;14(3):179-83.
  5. Buxbaum JN. The systemic amyloidoses. Curr Opin Rheumatol. Jan 2004;16(1):67-75. 
  6. Pavelka, Margit; Roth, Jürgen. Functional Ultrastructure: An Atlas of Tissue Biology and Pathology. Springer. p. 258. ISBN 3-211-83564-4.
  7. Breathnach SM: Amyloid and amyloidosis. J Am Acad Dermatol. 18:1-16 1988 3279077
  8. Buxbaum J: The amyloidoses. Mt Sinai J Med. 63:16-23 1996 8935845
  9. Wong CK: Amyloid. History and modern concepts. Clin Dermatol. 8:1-6 1990 2224728
  10. Falk RH, Comenzo RL, Skinner M: The systemic amyloidoses. N Engl J Med. 337:898-909 1997 9302305

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Last updated: 2019-07-11 22:27