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Hereditary amyloidosis

Hereditary amyloidosis Causes

The causes of primary amyloidosis is unknown. However, it is associated with abnormalities in blood cells because it often arises in people with bone marrow cancer. Secondary amyloidosis arises in people who have a chronic infection or inflammatory disease, such as tuberculosis, a bacterial infection called familial Mediterranean fever, bone infections, rheumatoid arthritis, inflammation of the small intestine, Hodgkin's disease, and leprosy.

Hereditary amyloidosis Definition

In medicine, amyloidosis refers to a group of conditions in which amyloid proteins are abnormally deposited in organs and/or tissues, causing disease. A protein is amyloid if, because of an alteration in its secondary structure, it takes on a particular insoluble form, called the beta-pleated sheet.

Hereditary amyloidosis Diagnosis

A definite diagnosis is done through a tissue sample (biopsy) from the liver, kidney, skin, gums, or rectum. A bone marrow biopsy may also be performed for the patient. Other laboratory and imaging tests can confirm the exact organ or system that is affected by the disease. The affected organs are oftentimes enlarged, and feel rubbery and firm.

Hereditary amyloidosis Symptoms and Signs

Symptoms of amyloidosis are dependent upon the area of the amyloid deposits and can range from mild to severe. In some extreme cases, amyloidosis can cause organ failure and death. The areas usually affected include gastrointestinal system, the heart, kidneys, liver and spleen, skin, lungs, thyroid and adrenal glands, lymph nodes, and blood vessels.

Hereditary amyloidosis Treatment

Therapies include melphalan, a chemotherapy agent also used to treat certain types of cancer, and dexamethasone, a corticosteroid used for its anti-inflammatory effects. Researchers are investigating other kinds of chemotherapy regimens for amyloidosis. Several medications that are used in the treatment of multiple myeloma are being tested for their ability to stop amyloidosis.

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