Skip to main content

Ask an Expert: What is Amyloidosis?

Amandeep Godara, MBBS
Amandeep Godara, MBBS

Amyloidosis is a complex disease and the program at Huntsman Cancer Institute (HCI) uses a collaborative approach to provide comprehensive medical care. Researchers are tirelessly trying to find new treatments for amyloidosis through clinical trials and teamwork. Specialists from hematology, cardiology, nephrology and neurology evaluate patients.

Amandeep Godara, MBBS, assistant professor in the division of hematology and hematologic malignancies at Huntsman Cancer Institute and the University of Utah, specializes in amyloidosis diagnosis and treatment. He explains how early identification can help patients live longer, better lives.

What is amyloidosis?

Amyloidosis is a rare disease that results from organ damage caused by an abnormal protein. These abnormal proteins grow into amyloid fibrils, which are difficult to wear down and remove.

What causes amyloidosis?

The three most common forms of amyloidosis are light-chain (AL), transthyretin (ATTR), and amyloid A (AA). Light-chains (rarely heavy-chain) secreted into the blood by bone marrow plasma cells create AL amyloidosis. ATTR amyloidosis is caused by an inherited mutation in the TTR gene or a person’s age, and AA amyloidosis occurs in connection to an infection or an autoimmune condition.

Over 30 proteins have been linked to the creation of amyloidosis.

What organs are commonly involved with amyloidosis?

The type of organ affected depends on the type of amyloidosis.

  • AL amyloidosis: kidney, heart, nervous system, liver, and spleen
  • ATTR amyloidosis: nervous system, heart, carpal tunnel, spine, and eyes
  • AA amyloidosis: kidneys and gastrointestinal tract

What are some symptoms of amyloidosis?

Symptoms of amyloidosis depend on where the amyloid protein accumulates in the body. Amyloidosis can involve many organs or just one. Severity of the symptoms will depend on the extent of damage.

Cardiac amyloidosis patients experience shortness of breath, arrhythmia, leg swelling, fatigue, or chest pain. Amyloidosis can also affect the kidneys and cause renal failure.

If amyloidosis is affecting the nervous system, patients may experience numbness, pain, weakness, and fluctuations in blood pressure. Gastrointestinal amyloidosis symptoms include bloating, loss of appetite, weight loss, and diarrhea.

Other symptoms of amyloidosis include bruising around the eyes, an enlarged tongue, bicep tendon rupture(s), carpal tunnel syndrome, and spinal stenosis.

How is amyloidosis diagnosed?

A biopsy of an affected organ could reveal amyloid fibrils. Patients suspected to have AL amyloidosis also need a bone marrow biopsy. If the affected organ cannot be investigated, a fat pad biopsy can be used to make an AL amyloidosis diagnosis. However, this is less useful for other forms of amyloidosis. Mass spectrometry is now widely used to correctly identify causes of the disease.

How is amyloidosis treated?

Treatment is based on the type of amyloidosis. AL amyloidosis is closely related to multiple myeloma, therefore similar treatments are effective. Treatment can involve chemotherapy, immunotherapy, and bone marrow transplantation.

ATTR amyloidosis is treated with gene silencers, protein stabilizers, or a liver transplant.

What does the future hold for amyloidosis patients?

A recent study conducted by an international team of investigators, which included patients treated at HCI, led to the first FDA treatment approval for AL amyloidosis. An antibody is currently under investigation in clinical trials for patients with AL amyloidosis involving the heart. These clinical trials are currently open at HCI.

Several therapies have been approved in the past three years for treatment of ATTR amyloidosis. These include gene silencers and TTR stabilizers. Several other therapies are currently being studied in clinical trials.