Hereditary amyloidosis
Hereditary Amyloidosis
Hereditary amyloidosis (pronunciation: /hɪˌrɛdɪˈtɛri ˌæmɪˈlɔɪˈdəʊsɪs/) is a rare genetic condition characterized by the production of abnormal protein deposits, known as amyloid, in various tissues and organs of the body.
Etymology
The term "hereditary amyloidosis" is derived from the Greek words "hereditas" meaning inheritance, and "amyloid" meaning starch-like, referring to the protein deposits that resemble starch under a microscope. "Osis" is a Greek suffix indicating a disease or condition.
Symptoms
Symptoms of hereditary amyloidosis can vary widely, depending on the organs affected. Common symptoms may include fatigue, weight loss, shortness of breath, and swelling in the legs and ankles.
Causes
Hereditary amyloidosis is caused by mutations in specific genes that affect the body's ability to break down certain proteins. The most common type of hereditary amyloidosis, known as transthyretin amyloidosis, is caused by mutations in the transthyretin (TTR) gene.
Diagnosis
Diagnosis of hereditary amyloidosis typically involves a combination of physical examination, medical history, and laboratory tests. Genetic testing may also be performed to confirm the diagnosis and identify the specific gene mutation.
Treatment
Treatment for hereditary amyloidosis is aimed at managing symptoms and slowing the progression of the disease. This may involve medications, dietary changes, and in some cases, organ transplantation.
Related Terms
External links
- Medical encyclopedia article on Hereditary amyloidosis
- Wikipedia's article - Hereditary amyloidosis
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