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Understanding Amyloidosis
A comprehensive guide to amyloidosis — what it is, how it affects the body, its types, diagnosis, and treatment.
The Basics
What is Amyloidosis?
A rare group of disorders caused by abnormal protein deposits that can interfere with normal tissue and organ function.
Core Overview
Protein deposits that disrupt how vital organs function.
Amyloidosis is a rare and serious disease caused by the abnormal accumulation of misfolded proteins called amyloid fibrils in different organs and tissues. These proteins, which should normally be broken down and cleared by the body, instead build up and disrupt normal function.
The condition can affect multiple organs — such as the heart, kidneys, liver, nerves, and digestive system — leading to severe health complications. Amyloidosis is not a single disease but rather a group of disorders, each classified based on the type of protein involved and the organs it affects.
Multi-organ impact
Rare but serious
Needs early diagnosis
How Amyloidosis Develops
In a healthy body, proteins fold into specific shapes to perform biological functions. In amyloidosis, certain proteins misfold into an abnormal shape, forming insoluble amyloid fibrils that accumulate in tissues — causing progressive damage by compressing organs and triggering inflammation.
Kidney Insight
01
Cardiac Risk
02
India Data
03
Diagnosis Gap
04
Root Causes
Causes of Amyloidosis
Amyloidosis arises from several different underlying conditions, each triggering abnormal protein production in the body.
Abnormal Plasma Cells
In AL amyloidosis, plasma cells produce abnormal light-chain proteins that can misfold and form amyloid deposits.
Genetic Mutations
Inherited variants, especially in the TTR gene, can lead to unstable transthyretin protein and hereditary ATTR amyloidosis.
Chronic Inflammatory Disease
Long-term inflammation or infection may increase Serum Amyloid A protein and lead to AA amyloidosis.
Long-Term Dialysis
β2-microglobulin can accumulate in patients on prolonged dialysis and contribute to dialysis-related amyloidosis.
Localised Deposits
Some forms remain limited to one organ or tissue instead of affecting several systems throughout the body.
Wild-Type TTR Changes
Normal transthyretin can misfold with aging, causing wild-type ATTR that primarily affects the heart.
Body Impact
How Does Amyloidosis Affect the Body?
Amyloid deposits interfere with normal organ function. The organs affected depend on the type of amyloid protein involved — symptoms range from mild to life-threatening.
Cardiac Amyloidosis
Deposits in the heart may affect filling, rhythm and pumping efficiency, leading to breathlessness or swelling.
Renal Amyloidosis
Kidney involvement may lead to protein loss, fluid retention and reduced kidney function.
Gastrointestinal Amyloidosis
Amyloid involvement may influence appetite, digestion, weight and bowel function.
Hepatic Involvement
Liver enlargement and altered liver-related findings may occur in some forms of systemic amyloidosis.
Neurological Effects
Numbness, tingling, weakness or autonomic symptoms may develop when peripheral nerves are involved.
Musculoskeletal Effects
Joints, tendons or other soft tissues can be affected in certain amyloidosis types.
Classification
Types of Amyloidosis
Amyloidosis is classified by the type of amyloid protein involved. Click each type to see cause, affected organs, and treatments.
CauseAbnormal plasma cells produce misfolded light chains
OrgansHeart, Kidneys, Nerves, Liver
TreatmentChemotherapy (Bortezomib, Lenalidomide), Stem Cell Transplant
CauseChronic inflammatory diseases (e.g., Rheumatoid Arthritis, Crohn's)
OrgansKidneys, Liver
TreatmentColchicine, Treat underlying disease (e.g., TNF inhibitors)
CauseGenetic mutation in TTR gene (inherited)
OrgansNerves, Heart
TreatmentTafamidis (Vyndaqel), Patisiran/Inotersen (Gene Therapy), Liver Transplant
CauseLong-term dialysis → buildup of β2-microglobulin
OrgansJoints, Bones
TreatmentKidney Transplant, Pain Management (NSAIDs, Steroids)
CauseAmyloid deposits in a single organ
OrgansLungs, Bladder, Skin
TreatmentSurgery, Laser Therapy
CauseAging-related amyloid deposits (normal TTR protein misfolds)
OrgansHeart, Tendons
TreatmentTafamidis (Vyndaqel), Heart Medications
Clinical Process
Diagnosis of Amyloidosis
Diagnosing amyloidosis is challenging because its symptoms resemble many other diseases. A combination of tests is required to confirm the diagnosis and determine the amyloid type.
Recognising Symptoms
Identifying early warning signs such as fatigue, swelling, shortness of breath, or unexplained weight loss across multiple organ systems.
Blood & Urine Tests
Detecting abnormal proteins (free light chains, M-protein) and assessing kidney and liver function markers.
Imaging Tests
Echocardiogram, MRI, PET scan, and bone scintigraphy to assess organ involvement and detect amyloid deposits.
Biopsy Confirmation
A tissue biopsy with Congo red staining confirms amyloid deposits.
Identifying the Amyloid Type
Immunohistochemistry, mass spectrometry, or genetic testing determines the exact type of amyloid protein involved.
Medical Care
Treatment of Amyloidosis
Treatment depends on the type of amyloid protein involved, the organs affected, and the severity of the disease.
Since amyloid deposits interfere with organ function, the main treatment goals are to stop the production of abnormal proteins, remove existing amyloid deposits, and manage symptoms to improve the patient's quality of life. There is no single cure for amyloidosis, but advances in chemotherapy, targeted medications, stem cell therapy, and organ transplants have significantly improved patient outcomes.
Identify the Amyloidosis Type
Confirm the protein type and assess which organs are affected before treatment is selected.
Type-Specific First-Line Treatment
Therapy targets the source of the amyloid-forming protein or the underlying disease.
Organ Support or Transplant
Selected severe cases may require heart, kidney or liver transplantation.
Supportive Care & Monitoring
Symptoms, organ function and treatment response require long-term follow-up.
AL Amyloidosis (Light Chain)
Chemotherapy to destroy abnormal plasma cells
Localised Amyloidosis
Surgical removal or laser therapy
AA Amyloidosis
Control chronic inflammation
ATTR Amyloidosis
Stabilise or block TTR production
Dialysis-Related Amyloidosis
Kidney transplant or dialysis adjustment
Severe Organ Involvement
Heart, kidney or liver transplant in selected cases
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Medical information notice:
This page is intended for general education and awareness. It does not replace diagnosis, treatment or medical advice from a qualified healthcare professional.