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.

• 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]

  […] deposition of AA (amyloid-associated) protein in various organs Clinical features Kidney: nephrotic syndrome, type II renal tubular acidosis, nephrogenic diabetes insipidus Adrenal glands: primary adrenal insufficiency Liver and spleen: hepatomegaly, splenomegaly [amboss.com]

  Hepatomegaly is a frequent finding, 39 and although palpable splenomegaly is rare, evidence of splenic dysfunction is often apparent (table 5 ). [pmj.bmj.com]

  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]

• Easy Bruising

  bruising or bleeding Pancreas - Diabetes Musculoskeletal system - Joint pain or swelling, weakness Skin - Lumps or purple discoloration No one knows what causes amyloidosis. [health.harvard.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]

  When the skin is involved, easy bruising is common, which can sometimes occur around the eyes. The tongue sometimes enlarges (macroglossia). [msdmanuals.com]

  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]

• Amyloidosis

  Thus, it is termed AA amyloidosis. AA amyloidosis usually begins as disease in the kidneys, but other organs can be affected. [bu.edu]

  Amyloid Fibrils Formation What is amyloidosis? Amyloidosis (am-uh-loy-doh-sis) is a protein disorder. In this disease, proteins change shape (misfold), then clump together and form amyloid fibrils which deposit in organs. [my.clevelandclinic.org]

  What Is Amyloidosis? Amyloidosis occurs when proteins accumulate abnormally in various body organs. The proteins, called amyloid fibrils, can accumulate in many organs. [stanfordhealthcare.org]

  These disorders do not develop into systemic amyloidosis. Localized amyloid deposits in the airway, eye, or urinary bladder are made up of light chain proteins, similar to AL amyloidosis. [froedtert.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]

  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]

  […] the head and neck are affected include: Lighheadedness upon standing Purple color on the eyelids and/or around they eyes Enlarged tongue Symptoms indicating the heart and lungs are affected include: Shortness of breath Palpitations (arrhythmias) Chest pain [my.clevelandclinic.org]

  Amyloid build up occurs primarily in the nerves that detect touch, pain, heat, and sound. It can cause loss of sensation, tingling, numbness or pain in the hands and feet (also known as peripheral neuropathy). [pfizer.com]

  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]

• Fatigue

  After one year, her symptoms of fatigue became worse, and her proteinuria increased. [ncbi.nlm.nih.gov]

  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]

  […] head and neck are affected include: Lighheadedness upon standing Purple color on the eyelids and/or around they eyes Enlarged tongue Symptoms indicating the heart and lungs are affected include: Shortness of breath Palpitations (arrhythmias) Chest pain Fatigue [my.clevelandclinic.org]

  In addition to organ-specific symptoms, amyloidosis can cause general fatigue, weight loss, joint swelling, and soft tissue bruising. [uihc.org]

  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]

• 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]

  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]

  […] 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 the legs are affected include: Swelling [my.clevelandclinic.org]

  Kidney Kidney failure, fluid retention, swelling, shortness of breath Heart Heart failure, arrhythmias, heart attack Gastrointestinal Liver/spleen swelling, GI bleeding, malabsorption Neurologic Pain and numbness Blood vessels Low blood pressure Musculoskeletal [unckidneycenter.org]

  For example: Kidney deposits can cause leaking of protein with swelling in the legs, belly, and arms. Kidney deposits can eventually lead to kidney failure. [winchesterhospital.org]

• Weight Loss

  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]

  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]

  In most instances in which the weight loss is pronounced, patients with amyloidosis undergo a fruitless evaluation for an occult malignant disease. The cause of the weight loss is unclear. [mayoclinicproceedings.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]

  He reported exertional dyspnea and worsening peripheral edema over the previous two months. [revportcardiol.org]

  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]

  Cases Case 1 A 46-year-old male who attended our clinic due to unproductive cough, moderate effort dyspnea of recent onset and temperature of 38 °C. His only history was that he smoked 45 packs/year, with no symptoms of chronic bronchitis. [archbronconeumol.org]

• Hoarseness

  An otherwise-healthy 15-year-old girl presented with hoarseness, nasal congestion, and odynophagia. Diagnostic evaluation included flexible nasopharyngoscopy, rigid nasal endoscopy, direct laryngoscopy, bronchoscopy, and biopsy. [jamanetwork.com]

  Share on Pinterest An abnormal heart rhythm and hoarseness are common symptoms of amyloidosis. The buildup of amyloid proteins interferes with the normal functions of the organs. [medicalnewstoday.com]

  It can also cause hoarseness, hair loss, enlarged tongue, dry mouth and nail changes. In addition to these location-specific symptoms, you may also experience other general symptoms, such as unintended weight loss and anemia. [henryford.com]

  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]

• Pleural Effusion

  KEYWORDS: Congo red; amyloidosis; pleural effusion [ncbi.nlm.nih.gov]

  The visceral pleura may be affected and pleural effusion is common. [err.ersjournals.com]

  Persistent pleural effusions in primary systemic amyloidosis. Chest 2003; 124: 969-977 8. Козловская ЛВ, Рамеев ВВ. Проект клинических рекомендаций по диагностике и лечению системного амилоидоза. [journal.nephrolog.ru]

  Pleural infiltration with amyloid can lead to persistent pleural effusion (88. Berk JL, et al. Persistent pleural effusions in primary systemic amyloidosis: etiology and prognosis. Chest. 2003;124:969-77. [PMID: 12970025]). [acphospitalist.org]

• Exertional Dyspnea

  He reported exertional dyspnea and worsening peripheral edema over the previous two months. [revportcardiol.org]

  The symptoms most often include fatigue and exertional dyspnea, as well as edema due to heart failure, in some cases. Signs may include a lateral shift of the cardiac point of maximal impulse, as well as adventitial heart sounds and murmurs. [intechopen.com]

• 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

  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]

  In the present case, intestinal protein loss might explain the presence of hypoalbuminemia and diarrhea. [scielo.isciii.es]

  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 or Diarrhea [my.clevelandclinic.org]

  […] 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]

• Constipation

  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]

  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]

  Deposits in other areas of the gastrointestinal tract may cause: Bloating Constipation Diarrhea Difficulty swallowing This patient has amyloid deposits in the lip and tongue. [stanfordhealthcare.org]

  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]

• Nausea

  Nerves that control blood pressure, heart rate and other body functions can also be affected, causing a variety of symptoms, including dizziness when standing too quickly, nausea and diarrhea. This is known as autonomic neuropathy. [cancer.uams.edu]

  Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction. [orpha.net]

  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 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]

• 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]

  Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction. [orpha.net]

  Some patients may have a form of ATTR that leads to severe neuropathy with symptoms of numbness, tingling, or pain in the hands and/or feet and weakness. [saintlukeskc.org]

• Dysphagia

  Dysphagia is an uncommon presentation of systemic immunoglobulin light-chain (AL) amyloidosis with multiple myeloma (MM). Gastrointestinal (GI) involvement usually manifests with altered motility, malabsorption or bleeding. [ncbi.nlm.nih.gov]

  A rare case of dysphagia: hypopharyngeal amyloidosis masquerading as a post-cricoid tumour. J Laryngol Otol 2002 ; 116 : 54 –56 ↵ Lim JS, Lebowitz RA, Jacobs JB. Primary amyloidosis presenting as a nasopharyngeal mass. [ajnr.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 tongue sometimes enlarges (macroglossia). [msdmanuals.com]

• Jaw Claudication

  Infiltration of amyloid into blood vessels can cause leg or jaw claudication. Amyloid deposition in the skin can result in loss of scalp hair. [ncbi.nlm.nih.gov]

  Atrial arrhythmia with thrombus formation 3, low blood pressure (due to decreased cardiac output and low peripheral tone), postural hypotension due to autonomic nerve disorder 3, 5 and claudication of the jaw, legs and angina due to vascular involvement [scielo.org.co]

  Sometimes the angina is accompanied by jaw claudication.25 As we mentioned above, the affected vessels are normally intramyocardial and the epicardial arteries usually fail to show lesions. [revespcardiol.org]

• 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]

• 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]

  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]

  Depending on which organs are affected, amyloidosis may also present with hepatomegaly, macroglossia, cardiac conduction abnormalities, and symptoms of restrictive cardiomyopathy. [amboss.com]

  Table 1Diagnosis of Primary Amyloidosis Suspect amyloidosis when a patient presents with Nephrotic-range proteinuria Infiltrative cardiomyopathy Peripheral neuropathy Hepatomegaly Pseudo-obstruction of bowel “Multiple myeloma” Pursue diagnosis of primary [mayoclinicproceedings.org]

• Heart Failure

  Congestive heart failure occurs in approximately one fourth of patients with AL. [circ.ahajournals.org]

  Thus, AL cardiac amyloidosis with heart failure is a potentially fatal disease. [nature.com]

  Transthyretin amyloidosis (ATTR) predominantly leads to heart failure and/or neuropathy. This is an increasingly recognized cause of heart failure with preserved ejection fraction or diastolic heart failure. [saintlukeskc.org]

  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]

  But ATTR cardiac amyloidosis is increasingly recognized as an important cause of heart failure, atrial arrhythmias and conduction system disease. [mayoclinic.org]

• Heart Disease

  Amyloidosis refers to a group of diseases caused by deposits of abnormal proteins, known as amyloid, in one or more organs of the body. Deposition of amyloid in the heart is known as cardiac amyloidosis or amyloid heart disease. [brighamandwomens.org]

  disease, Valvular heart disease Pulmonology Associate Professor of Medicine, Boston University School of Medicine, Boston MA Special Interests: Amyloid, Pulmonary Fibrosis Nephrology Lawrence Stern, MD Assistant Professor of Medicine, Boston University [bmc.org]

  […] are also more prone to heart disease, especially with wild-type ATTR. [healthline.com]

  […] title=Isolated_atrial_amyloidosis&oldid=906039097" Categories: Heart diseases Protein folding [en.wikipedia.org]

• Hypotension

  Both patients also had hypotension and mild oedema upon physical examination, and an initial laboratory analysis revealed previously undiagnosed RF (Table 1) with conserved diuresis. [revistanefrologia.com]

  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]

  Some of the more recent strategies to alleviate other effects of autonomic neuropathy include: Midodrine—an α agonist, midodrine benefits patients with postural hypotension. 59 Our experience suggests that in comparison to non-amyloid postural hypotension [pmj.bmj.com]

  […] some symptoms are specific to the organ affected by the disease, general symptoms of amyloidosis include: Carpal tunnel syndrome (especially when in both wrists) Constipation and/or diarrhea Dizziness and low blood pressure when standing (orthostatic hypotension [houstonmethodist.org]

  Amiloidoz of heart is followed by a myocardium hypertrophy, violation of its sokratitelny ability, development of chronic insufficiency of blood circulation, arrhythmias, hypotensions, valvate defects. [medicine-for-you.com]

• Hypertension

  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]

  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]

  In patients with AL amyloidosis, the most common aetiologies of pulmonary hypertension are left-sided restrictive cardiomyopathy from amyloid deposition (group II pulmonary hypertension) or diffuse lung disease (group III pulmonary hypertension) [54, [err.ersjournals.com]

• Orthostatic Hypotension

  hypotension No Response/Stable Disease Does not meet the criteria for autonomic neuropathy response or progressive disease Progressive Disease Worsening of symptomatic orthostatic hypotension Peripheral Neuropathy Response Peripheral Neuropathy Response [cibmtr.org]

  Dysautonomia is also seen, particularly manifesting as orthostatic hypotension due to amyloid damaging the autonomic regulation of blood pressure. Orthostatic hypotension can be disabling, and may result in falls and therefore fractures. [intechopen.com]

  hypotension are the most common presenting features. [circ.ahajournals.org]

• Arthritis

  It is secondary to rheumatoid arthritis, which is difficult to manage and has a poor prognosis. [ncbi.nlm.nih.gov]

  Rheumatoid arthritis would be indicative of secondary systemic amyloidosis; 14/85 (17%) deaths in secondary systemic amyloidosis were due to rheumatoid arthritis, which was far above unspecified amyloidosis with 10/182 (5%) rheumatoid arthritis deaths [bmcpublichealth.biomedcentral.com]

  arthritis that affects children Multiple myeloma -- a type of blood cancer Reiter syndrome -- a group of conditions that causes swelling and inflammation of the joints, eyes, and urinary and genital systems) Rheumatoid arthritis Systemic lupus erythematosus [medlineplus.gov]

  Regression of the nephrotic syndrome in rheumatoid arthritis and amyloidosis treated with azathioprine. A case report. Arthritis Rheum. 1995; 38 1851-1854 186 Shaz B H, Lewis W D, Skinner M, Khettry U. [doi.org]

  History of inflammatory disease: Some conditions, such as arthritis or inflammatory bowel disease, can trigger AA amyloidosis. [medicalnewstoday.com]

• Arthralgia

  This is usually associated with AL amyloidosis, but AA amyloidosis has also been reported. 39 Hepato/splenomegaly in patients with Schnitzler syndrome (IgM monoclonal gammopathy, urticarial rash, arthralgia, bone pain, lymphadenopathy) should alert one [bloodjournal.org]

  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]

• 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]

  Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction. [orpha.net]

  Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura [en.wikipedia.org]

  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]

  Amyloidosis Symptoms Signs and symptoms of amyloidosis include: Feeling very weak or tired Losing weight without trying Swelling in the belly, legs, ankles or feet Numbness, pain or tingling in hands or feet Skin that bruises easily Purple spots (purpura [hopkinsmedicine.org]

• Skin Lesion

  Skin lesions The most common skin findings are purpura: petechiae (small red blood spots) and ecchymoses (small, flat blood spots that are a round or irregular shape and bluish/purplish). [dermnetnz.org]

  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]

  The patient responded well to the CyBorD scheme (cyclophosphamide, bortezomib, dexamethasone), renal function was recovered and skin lesions decreased. [scielo.org.co]

  Due to skin lesions of the face, the biopsy was performed with a positive pathohistological finding of amyloidosis with kappa light chains. [library.laredo.edu]

  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]

• Blister

  Blood-filled blisters may form, for example on pinching the skin. The nails may be crumbly and brittle (nail dystrophy). Patches of hair loss may arise (diffuse alopecia). [dermnetnz.org]

  (D) Individual blisters on upper arm The presentation of amyloidosis is broad and depends on the site of amyloid accumulation. The kidney and heart are the most common organs involved. [en.wikipedia.org]

• 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]

  Lesions consist of multiple raised spots (papules) that are scaly and red/brown. Papules may coalesce into thickened plaques. It appears to be more common in people of Chinese descent and males. It most often occurs in people 50–60 years of age. [dermnetnz.org]

  Papules in the auricular concha: lichen amyloidosus in a case of biphasic amyloidosis. Dermatologica 1990; 181: 149- 151. 15. Tursen U, Kaya TI, Dusmez D, Ikizoglu G. Case of generalized lichen amyloidosis. Int J Dermatol 2003; 42: 649-651. 16. [arastirmax.com]

  Other manifestations described were petechiae, ecchymotic macules, plaques, papules and nodules that simulate amber, hemorrhagic, normochromic or non-pruritic vesicles, which can appear in eyelids, retroauricular area, lips, tongue, oral mucosa, neck, [scielo.org.co]

  […] nonsystemic conjunctival amyloidosis. [19] Secondary, localized conjunctival amyloidosis has been reported after blunt ocular trauma. [20] Gross examination commonly reveals a yellowish, “waxy” lesion described as “confluent fusiform lesions or polypoidal papules [eyewiki.aao.org]

• 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]

  Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction. [orpha.net]

  Skin lesions The most common skin findings are purpura: petechiae (small red blood spots) and ecchymoses (small, flat blood spots that are a round or irregular shape and bluish/purplish). [dermnetnz.org]

  Other manifestations described were petechiae, ecchymotic macules, plaques, papules and nodules that simulate amber, hemorrhagic, normochromic or non-pruritic vesicles, which can appear in eyelids, retroauricular area, lips, tongue, oral mucosa, neck, [scielo.org.co]

• Peripheral Neuropathy

  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]

  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]

  Utility of subcutaneous fat aspiration for diagnosing amyloidosis in patients with isolated peripheral neuropathy. [mayoclinicproceedings.org]

• Tingling

  This can cause carpal tunnel syndrome, which causes your hand and arm to become numb and tingle. The spinal canal, which can cause narrowing of the spinal column (spinal stenosis). [my.clevelandclinic.org]

  Some patients may have a form of ATTR that leads to severe neuropathy with symptoms of numbness, tingling, or pain in the hands and/or feet and weakness. [saintlukeskc.org]

  […] with amyloidosis in different body parts may experience different physical problems: Brain - Dementia Heart - Heart failure, an irregular or unstable heart rhythm, enlarged heart Kidneys - Kidney failure, protein in the urine Nervous system - Numbness, tingling [health.harvard.edu]

  Amyloidosis in the Nerves Amyloid deposits in the nerves lead to numbness, tingling, pain or, less commonly, weakness. In addition, amyloid deposits in the nerves may contribute to low blood pressure. [stanfordhealthcare.org]

• Dizziness

  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]

  Others may have dizziness upon standing up, which can cause one to pass out or feel very lightheaded. [henryford.com]

  The predominant symptoms included headaches, dizziness, vomiting, hallucinations, and cognitive impairments which associated with obstructive hydrocephalus. [ncbi.nlm.nih.gov]

  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]

  Peripheral neuropathy with paresthesias of the toes and fingers is a common presenting manifestation in AL and ATTR amyloidoses. [merckmanuals.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]

  Kidney Kidney failure, fluid retention, swelling, shortness of breath Heart Heart failure, arrhythmias, heart attack Gastrointestinal Liver/spleen swelling, GI bleeding, malabsorption Neurologic Pain and numbness Blood vessels Low blood pressure Musculoskeletal [unckidneycenter.org]

  Symptoms can occur in any organ of the body and include heart failure, protein in the urine or kidney failure, enlarged liver, neuropathy or enlarged tongue. [bu.edu]

• Urinary Incontinence

  People with TTR-FAP often also experience symptoms that affect multiple bodily systems at the same time, such as diarrhea, constipation, nausea, vomiting, unintended weight loss, feeling full quickly after eating, sexual dysfunction, urinary incontinence [pfizer.com]

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]

  effusion; and interatrial septal hypertrophy. [revportcardiol.org]

  Other echocardiographic findings include the presence of thickened valves, mild pericardial effusion, biatrial dilation and thickening of the interatrial septum. [revespcardiol.org]

• Atelectasis

  Narrowing of airways can cause wheezing, distal atelectasis, recurrent pneumonia or lobar collapse, and solitary nodules may be mistaken for endobronchial neoplasia [78, 79]. [err.ersjournals.com]

  Considering the lytic lesions observed in chest tomography, neoplasms (myopathy as a paraneoplastic phenomenon) were looked for as there was no compromise of the pulmonary parenchyma, only bibasal subsegmental atelectasis. [scielo.org.co]

• Creatinine Increased

  In one quarter of patients there is nephritic syndrome, with macroscopic hematuria, proteinuria, hypertension, and increased serum creatinine. [kidneypathology.com]

• Thrombocytosis

  Thrombocytosis is a diagnostic clue and occurs in 10%. Reduced renal function is present at diagnosis in 50% of patients. [circ.ahajournals.org]

• Right Bundle Branch Block

  (21% were first degree blocks), and 14.5% presented bundle-branch block (in 9% right bundle-branch block and in 5.5% left bundle-branch block). [revespcardiol.org]

• 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]

  As a result, further amyloid plaque should not deposit in the organs. Which medication you are eligible for will depend on your symptoms and whether or not you have the hereditary form of TTR amyloidosis. [hopkinsmedicine.org]

  Ultrastructural analysis confirmed the presence of cortical amyloid plaques (Panel L, with magnification shown in inset). [doi.org]

  plaques formed from prion proteins. [pmj.bmj.com]

  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]

• Ventricular Hypertrophy

  Clues to the diagnosis include ventricular "hypertrophy" seen on echocardiography with inappropriately low electrical voltages on electrocardiogram (ECG) (see below). [acc.org]

  On echocardiogram, there is also large left ventricular hypertrophy (LVH), but on EKG, LVH is absent. Cardiac amyloidosis is an infiltrative disease, and it replaces the myocardial muscle, so it doesn’t conduct electricity. [uhhospitals.org]

  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]

  In the elderly black population, heart failure with severe left ventricular hypertrophy may be due to hypertension but consideration should also be given to the Ile 122 syndrome that results in a similar appearance on echocardiography. [pmj.bmj.com]

  Echocardiography was remarkable for severe concentric left ventricular hypertrophy, a diminished ejection fraction of 45-50%, a pulmonary artery pressure of 50-55 mm Hg, and a dilated inferior vena cava. [ncbi.nlm.nih.gov]

• Left Ventricular Hypertrophy

  On echocardiogram, there is also large left ventricular hypertrophy (LVH), but on EKG, LVH is absent. Cardiac amyloidosis is an infiltrative disease, and it replaces the myocardial muscle, so it doesn’t conduct electricity. [uhhospitals.org]

  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]

  In the elderly black population, heart failure with severe left ventricular hypertrophy may be due to hypertension but consideration should also be given to the Ile 122 syndrome that results in a similar appearance on echocardiography. [pmj.bmj.com]

  Echocardiography was remarkable for severe concentric left ventricular hypertrophy, a diminished ejection fraction of 45-50%, a pulmonary artery pressure of 50-55 mm Hg, and a dilated inferior vena cava. [ncbi.nlm.nih.gov]

  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]

• Biventricular Hypertrophy

  If cardiac involvement is suspected because of symptoms, ECG, or cardiac biomarkers, echocardiography is done to measure diastolic relaxation and systolic function and to screen for biventricular hypertrophy. [merckmanuals.com]

  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]

• Low-Voltage Electrocardiogram

  Systemic amyloidosis (AA) can lead to heart failure with left ventricular hypertrophy on echocardiogram with standard or low voltage electrocardiogram. [ncbi.nlm.nih.gov]

  Left ventricular hypertrophy, low-voltage electrocardiogram, and restrictive cardiomyopathy are some of the cardiac manifestations (77. Cueto-Garcia L, et al. [acphospitalist.org]

• Pleural Effusion

  KEYWORDS: Congo red; amyloidosis; pleural effusion [ncbi.nlm.nih.gov]

  The visceral pleura may be affected and pleural effusion is common. [err.ersjournals.com]

  Persistent pleural effusions in primary systemic amyloidosis. Chest 2003; 124: 969-977 8. Козловская ЛВ, Рамеев ВВ. Проект клинических рекомендаций по диагностике и лечению системного амилоидоза. [journal.nephrolog.ru]

  Pleural infiltration with amyloid can lead to persistent pleural effusion (88. Berk JL, et al. Persistent pleural effusions in primary systemic amyloidosis: etiology and prognosis. Chest. 2003;124:969-77. [PMID: 12970025]). [acphospitalist.org]

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.

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.

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.

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

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.

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.

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)

• This often develops in the presence of another chronic inflammatory disease like systemic lupus erythematosus, rheumatoid arthritis, tuberculosis, inflammatory bowel disease and ulcerative colitis. It also develops in the presence of certain cancers.

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. 

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.

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