Table of ContentsView AllTable of ContentsSkin SymptomsRespiratory SymptomsCardiac SymptomsWeight SymptomsGastrointestinal SymptomsNeurological SymptomsMuscle and Bone SymptomsKidney SymptomsSystemic and OtherTypes of AmyloidosisDiagnosisHelp With PainTreatment
Table of ContentsView All
View All
Table of Contents
Skin Symptoms
Respiratory Symptoms
Cardiac Symptoms
Weight Symptoms
Gastrointestinal Symptoms
Neurological Symptoms
Muscle and Bone Symptoms
Kidney Symptoms
Systemic and Other
Types of Amyloidosis
Diagnosis
Help With Pain
Treatment
“Amyloidosis” is the name for a rare group of diseases in which amyloid protein builds up in the organs. That buildup affects the way organs and body tissues work.Amyloidosiscan affect the heart, kidneys, spleen, liver, gastrointestinal (GI) tract, and nervous system.
Risk factors for amyloidosis include family history and genetics, inflammatory conditions, long-term kidney dialysis, and older age.Early diagnosis might prevent organ damage, and while there is no cure for the condition, amyloidosis is manageable and treatable.
Amyloidosis is not a type of cancer. However, one form is associated with some types of blood cancer, includingmultiple myeloma.
Cavan Images / Raffi Maghdessian / Getty Images
Amyloidosis Skin Symptoms
Amyloidosis that affects the skin is called cutaneous amyloidosis.It causes amyloid proteins to be deposited in thetwo layers of skin(the dermis and epidermis). It is considered localized amyloidosis because it mainly affects the skin and does not invade the organs.
Cutaneous amyloidosis causes patches of skin that may appear in abnormal textures and colors.The reason for the different appearance is that there are three forms of the condition: lichen amyloidosis, macular amyloidosis, and nodular amyloidosis.
Lichen amyloidosis causes very itchy, bumpy skin patches. These patches might also be scaly, red-brown, and primarily appear on the shins but may occur on other leg areas, the forearms, and other body areas.
With macular amyloidosis, skin patches are dark brown and flat, although they may have a lacy or rippled appearance.These lesions can be found on the upper back, torso, and limbs. Patches might be itchy.
Nodular amyloidosis causes firm, raisednodules(bumps) that may appear pink, red, or brown. Nodules might appear on the face, torso, limbs, or genitals. Nodular amyloidosis isn’t typically itchy or painful.
Some people experience a combined type of cutaneous amyloidosis that includes skin symptoms of both lichen and macular amyloidosis.This is called biphasic amyloidosis.
Cutaneous amyloidosis typically isn’t life-threatening, but it can lead to cosmetic changes and cause severe itching that diminishes your quality of life.Like other skin diseases (i.e.,psoriasisandvitiligo), it can cause psychosocial stress and emotional challenges.
Additional symptoms of amyloidosis that may affect skin cells are easy bruising, patches around the eyes, and hair loss.Amyloidosis may also cause tongue and muscle enlargement.
Amyloidosis Respiratory Symptoms
Respiratory involvement occurs in 50% of people with amyloidosis.Respiratory symptoms might mimic those seen in people withinterstitial lung disease—a lung condition that causes progressive lung scarring.
Respiratory symptoms of amyloidosis includeshortness of breath, cough, mucus that contains blood,wheezing, andrecurrent respiratory tract infections.
Amyloidosis that affects the lungs can also cause shortness of breath.This symptom will make everyday activities like climbing stairs harder, and you may need to rest after little physical exertion.
Amyloidosis Cardiac Symptoms
When symptoms do present, they may include:
If amyloidosis affects the heart, it may cause shortness of breath. This happens because amyloid deposits affect the heart’s ability to fill up with blood between heartbeats, which means less blood is pumped.Cardiac amyloidosismight make it harder to take deep breaths, especially when lying flat on your back.
Restrictive Cardiomyopathy
Amyloidosis Weight Symptoms
Amyloid protein loss from the blood can lead to loss of appetite and weight loss.Swallowing and chewing difficulties from an enlarged tongue can lead to discomfort and cause you to eat less, so you lose weight.
If amyloidosis affects thedigestive system, it might impair food digestion and nutrient absorption, affecting weight and causing nutritional deficiencies.Symptoms like diarrhea andesophageal refluxmay also contribute to weight loss.
Amyloidosis Gastrointestinal Symptoms
Amyloidosis that causes amyloid proteins to accumulate in the GI tract is called GI amyloidosis. This type of amyloidosis can begeneticor acquired.
GI amyloidosis causes weight loss, bleeding, diarrhea, constipation,malabsorption, esophageal reflux, and obstruction.Symptoms will vary based on the type and location of amyloid deposits.
Amyloidosis Neurological Symptoms
Amyloidosis can cause neurological symptoms that affect peripheral sensory, motor, and autonomic nerves.Amyloid deposits can also lead to problems in these nerves.
The most common neurological symptoms of amyloidosis include:
Signs and Symptoms of hATTR Amyloidosis
Amyloidosis Musculoskeletal Symptoms
Amyloidosis can affect bones, joints, and muscles.It can cause the muscles to be enlarged and bone and joint pain and swelling. It can also increase your risk for fractures (bone breaks).
Amyloid proteins might even affect the spine and cause neurological symptoms and muscle weakness. Protein buildup has also been linked to bone erosion and destruction,bone cysts, andcarpal tunnel syndrome.
Amyloidosis Kidney Symptoms
Amyloidosis can limit thekidneys' filtering systemcausing proteins in the blood to leak into the urine.This causes the kidneys to become sluggish in removing waste products, eventually leading to kidney failure and the need fordialysis.
If you have kidney damage, you might experiencenephrotic syndrome.Symptoms of nephrotic syndrome include:
Amyloidosis Systemic Symptoms
Amyloidosis can cause systemic symptoms that affect the whole body or an entire body system. Such symptoms include:
Determining the type of amyloidosis can be helpful to your healthcare provider in offering treatments and determining prognosis.
Primary Amyloidosis
These proteins circulate into the bloodstream and deposit in various body areas, including the heart, kidneys, spleen, nerves, and skin. This type is sometimes linked tomultiple myeloma, a type of blood cancer affecting the plasma cells.
Secondary Amyloidosis
Conditions that might lead to AA amyloidosis include:
Transthyretin Amyloidosis
Beta-2 Microglobulin Amyloidosis
Localized Amyloidosis
Localized amyloidosis leads to localized amyloid proteins in the airways, eyes, bladder, skin, heart, and other body areas.Multiple subtypes exist but usually do not become systemic.
How Are Amyloidosis Symptoms Diagnosed?
Early diagnosis of amyloidosis can prevent organ and tissue damage. Unfortunately, the disease is often overlooked because the symptoms it causes are seen in various conditions.It is also possible for the condition to be asymptomatic (having no disease symptoms) at first.
Your healthcare provider will start with a physical exam. This looks for physical signs of the condition, including skin symptoms like easy bruising, nodules, skin plaques, brittle nails, and swelling throughout the body.
Your healthcare provider will also want to know about your family history and medical history, along with the symptoms you are experiencing.
Immunohistochemistry(IHC) testing can be used to determine the subtype of amyloidosis. It involves a tissue collection to look for amyloid proteins on the cell surfaces.The IHC test is typically done with a protein electrophoresis test, which can help detect amyloidosis.
Additional testing for amyloidosis includes laboratory testing and imaging, such as:
What Helps With Amyloidosis Pain Symptoms?
Some of the symptoms of amyloidosis can be painful, including neuropathy and joint and muscle pain. Severe organ damage might also cause pain and discomfort.
Amyloidosis nerve pain can be managed withanti-seizure drugs, antidepressants, andanalgesicssuch as Advil (ibuprofen), Indocin (indomethacin), and opioids.Medicines likecorticosteroidscan reduce bone, muscle, and joint inflammation and swelling.Diureticscan reduce fluid to decrease pain in edema-affected body areas.
Treatment Options for Amyloidosis Symptoms
Treatment for amyloidosis aims to reduce symptoms and prevent complications like kidney, liver, or heart failure. Treatment may vary based on the type of amyloidosis and the symptoms it causes.
Researchers are looking at new therapies to prevent amyloid proteins from depositing in the organs.They have also looked at high-dose chemotherapy withautologous stem cell transplantationto treat primary amyloidosis and improve life expectancy.
Summary
Amyloidosis is a group of diseases that causes abnormal amyloid protein buildup in various body areas, including the skin, heart, lungs, kidneys, and liver. Left untreated, this buildup can be dangerous and cause organ damage. There are different types of amyloidosis, but the two most common are primary and secondary amyloidosis.
Symptoms of amyloidosis can affect various body areas and include skin patches and nodules, neurological symptoms, weight loss, shortness of breath, muscle, bone, and joint pain, muscle weakness and enlargement, kidney filtering problems, and systemic symptoms like dizziness and severe fatigue.
22 Sources
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Picken MM.The pathology of amyloidosis in classification: a review.Acta Haematol. 2020;143(4):322-334. doi:10.1159/000506696
Johns Hopkins Medicine.Amyloidosis.
Al Hamed R, Bazarbachi AH, Bazarbachi A, Malard F, Harousseau JL, Mohty M.Comprehensive review of AL amyloidosis: some practical recommendations.Blood Cancer J. 2021;11(5):97. doi:10.1038/s41408-021-00486-4
MedlinePlus Genetics.Primary localized cutaneous amyloidosis.
Fang S, Shen X, Chen AJ, Li S, Shan K.Health-related quality of life in patients with primary cutaneous amyloidosis.PLoS One. 2015;10(3):e0120623. doi:10.1371/journal.pone.0120623
Lipsker D.Monoclonal gammopathy of cutaneous significance: review of a relevant concept.J Eur Acad Dermatol Venereol. 2017;31(1):45-52. doi:10.1111/jdv.13847
Zimna K, Sobiecka M, Langfort R, Błasińska K, Tomkowski WZ.Pulmonary amyloidosis mimicking interstitial lung disease and malignancy - A case series with a review of a pulmonary patterns.Respir Med Case Rep. 2021;33:101427. doi:10.1016/j.rmcr.2021.101427
Penn Medicine.What is cardiac amyloidosis?
Embry-Dierson M, Farrell MB, Schockling E, Warren J, Jerome S.Cardiac amyloidosis imaging, part 1: amyloidosis etiology and image acquisition.J Nucl Med Technol. 2023;51(2):83-89. doi:10.2967/jnmt.123.265415
Rowe K, Pankow J, Nehme F, Salyers W.Gastrointestinal amyloidosis: review of the literature.Cureus. 2017;9(5):e1228. doi:10.7759/cureus.1228
Siakallis L, Tziakouri-Shiakalli C, Georgiades CS.Amyloidosis: review and imaging findings.Semin Ultrasound CT MR. 2014;35(3):225-239. doi:10.1053/j.sult.2013.12.006
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).Amyloidosis and kidney disease.
Milani P, Merlini G, Palladini G.Light chain amyloidosis.Mediterr J Hematol Infect Dis. 2018;10(1):e2018022. doi:10.4084/MJHID.2018.022
American Society of Clinical Oncology.Amyloidosis: risk factors.
Stanford Health Care.AA (secondary) amyloidosis.
Amyloidosis Foundation.AA amyloidosis.
Griffin JM, Rosenthal JL, Grodin JL, Maurer MS, Grogan M, Cheng RK.ATTR amyloidosis: current and emerging management strategies:JACC: CardioOncologystate-of-the-art review.JACC CardioOncol. 2021;3(4):488-505. doi:10.1016/j.jaccao.2021.06.006
Portales-Castillo I, Yee J, Tanaka H, Fenves AZ. Beta-2 microglobulin amyloidosis: past, present, and future.Kidney360. 2020;1(12):1447-1455. doi:10.34067/KID.0004922020
Sugi MD, Kawashima A, Salomao MA, Bhalla S, Venkatesh SK, Pickhardt PJ.Amyloidosis: multisystem spectrum of disease with pathologic correlation.Radiographics. 2021;41(5):1454-1474. doi:10.1148/rg.202121000
Mollee P, Renaut P, Gottlieb D, Goodman H.How to diagnose amyloidosis.Intern Med J. 2014;44(1):7-17. doi:10.1111/imj.12288
UCSF Health.Amyloidosis treatments.
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