Familial Amyloidosis, Finnish Type
Familial Amyloidosis, Finnish Type
Familial Amyloidosis, Finnish Type (pronunciation: fuh-MILL-ee-ul am-uh-LOY-doh-sis, FINN-ish type) is a rare genetic disorder characterized by the buildup of abnormal protein deposits, known as amyloid, in various tissues and organs of the body. This condition is particularly prevalent in the Finnish population, hence its name.
Etymology
The term "Familial Amyloidosis, Finnish Type" is derived from its familial occurrence (passed down in families), the presence of amyloid deposits, and its high prevalence in the Finnish population. The term "amyloidosis" comes from the Greek words "amylon" which means starch and "-osis" which indicates a condition or process.
Symptoms
The symptoms of Familial Amyloidosis, Finnish Type can vary widely among affected individuals. They may include neuropathy, cardiomyopathy, gastrointestinal problems, and ocular abnormalities.
Causes
Familial Amyloidosis, Finnish Type is caused by mutations in the gelsolin gene. This gene provides instructions for making a protein that helps control the assembly and disassembly of actin, a protein that forms the cell's structural framework.
Diagnosis
Diagnosis of Familial Amyloidosis, Finnish Type is based on a combination of clinical findings, family history, and specialized tests such as genetic testing and biopsy of affected tissues.
Treatment
Treatment for Familial Amyloidosis, Finnish Type is aimed at managing the symptoms and may include medications, physical therapy, and in severe cases, organ transplant.
See Also
References
External Links
External links
- Medical encyclopedia article on Familial Amyloidosis, Finnish Type
- Wikipedia's article - Familial Amyloidosis, Finnish Type
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