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Amyloidosis: Causes, Symptoms and Treatment

Amyloidosis is a rare disease in which abnormal protein deposits called amyloids accumulate in organs and tissues, impairing their normal function.

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Things worth knowing about "Amyloidosis"

Amyloidosis is a rare disease in which abnormal protein deposits called amyloids accumulate in organs and tissues, impairing their normal function.

What is Amyloidosis?

Amyloidosis is a group of rare but serious diseases in which misfolded protein molecules -- known as amyloids -- accumulate in various organs and tissues throughout the body. These deposits interfere with normal organ function and can ultimately lead to severe organ failure. There are several distinct forms of amyloidosis, each differing in cause, the type of protein involved, and clinical course.

Causes and Types

Amyloidosis is classified according to the type of protein that forms the deposits and the underlying cause:

AL Amyloidosis (Primary Amyloidosis): The most common form. It is caused by a plasma cell disorder in the bone marrow that produces abnormal light chain proteins. It is often associated with multiple myeloma.
AA Amyloidosis (Secondary Amyloidosis): Develops as a complication of chronic inflammatory conditions such as rheumatoid arthritis, Crohn's disease, or chronic infections. The deposited protein is serum amyloid A.
ATTR Amyloidosis (Transthyretin Amyloidosis): Caused by deposits of the transport protein transthyretin. It occurs in a hereditary form (hATTR) and a non-hereditary, age-related wild-type form (wtATTR), which predominantly affects older men.
Dialysis-related Amyloidosis: Occurs in long-term dialysis patients and is caused by deposits of beta-2 microglobulin.
Localized Amyloidosis: Confined to a single organ, such as the brain in Alzheimer's disease.

Symptoms

The symptoms of amyloidosis are diverse and depend on which organs are affected. Commonly involved organs include the heart, kidneys, liver, nervous system, and gastrointestinal tract.

Heart: Shortness of breath, fatigue, irregular heartbeat, heart failure
Kidneys: Protein in the urine (proteinuria), kidney failure, swelling (edema)
Nervous system: Tingling, numbness, pain (peripheral neuropathy), dizziness, fainting
Gastrointestinal tract: Weight loss, diarrhea, constipation, nausea
Liver: Enlarged liver (hepatomegaly), jaundice
General: Significant weight loss, fatigue, enlarged tongue (macroglossia), bruising around the eyes

Diagnosis

Diagnosing amyloidosis can be challenging because its symptoms are nonspecific and can mimic many other conditions. The following diagnostic tools are commonly used:

Tissue biopsy: The most reliable method. A sample is taken from affected tissue (e.g., abdominal fat pad, bone marrow, or rectal mucosa) and stained with Congo red dye. Under polarized light, amyloid deposits show a characteristic apple-green birefringence.
Blood and urine tests: Detection of light chain proteins, elevated inflammatory markers, or signs of impaired kidney function.
Imaging: Echocardiography, MRI, or nuclear scintigraphy to assess organ involvement.
Genetic testing: Used to identify hereditary forms such as hATTR amyloidosis.

Treatment

Treatment of amyloidosis depends on the specific type and the severity of organ involvement. A complete cure is often not possible, but modern therapies can slow disease progression and significantly improve quality of life.

AL Amyloidosis

The goal of therapy is to suppress the abnormal plasma cell clone. Treatment options include chemotherapy, proteasome inhibitors (e.g., bortezomib), and in eligible patients, autologous stem cell transplantation.

AA Amyloidosis

Treatment focuses on controlling the underlying inflammatory disease using biologics or immunosuppressants. The drug tocilizumab may help reduce serum amyloid A levels.

ATTR Amyloidosis

Newer therapeutic approaches include tafamidis, which stabilizes the transthyretin protein, and RNA interference therapies such as patisiran or inotersen, which reduce production of the misfolded protein. In selected cases, a liver transplant may be considered, as transthyretin is primarily produced in the liver.

Supportive Care

Regardless of the type, symptomatic treatments are used alongside targeted therapies: management of heart failure, dialysis for kidney failure, and pain management for neuropathy.

Prognosis

The prognosis of amyloidosis depends greatly on the type, the organs affected, and the timing of diagnosis. Early diagnosis and treatment significantly improve survival outcomes. Cardiac involvement in AL amyloidosis is associated with a particularly poor prognosis. However, thanks to newer targeted therapies, life expectancy has improved considerably in recent years.

References

Gertz MA. Immunoglobulin light chain amyloidosis: 2022 update on diagnosis, prognosis, and treatment. American Journal of Hematology. 2022;97(6):818-829.
Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. The Lancet. 2016;387(10038):2641-2654.
Merlini G, Dispenzieri A, Sanchorawala V, et al. Systemic immunoglobulin light chain amyloidosis. Nature Reviews Disease Primers. 2018;4:38.

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