Familial hypercholesterolaemia Health Dictionary

Familial Hypercholesterolaemia: From 1 Different Sources


Familial

A description of a disorder, illness or characteristic that runs in families.... familial

Hypercholesterolaemia

See CHOLESTEROL; HYPERLIPIDAEMIA.... hypercholesterolaemia

Familial Mediterranean Fever

An inherited condition that affects certain Sephardic Jewish, Armenian, and Arab families. Its cause is unknown. Symptoms usually begin between the ages of 5 and 15 years, and include recurrent episodes of fever, abdominal and chestpain, and arthritis. Red skin swellings sometimes occur, and affected people may also suffer psychiatric problems. Attacks usually last from 24–48 hours but may be longer. Between attacks there are usually no symptoms. Although there is no specific treatment for familial Mediterranean fever, known sufferers can reduce the incidence of attacks by taking colchicine. Death may eventually occur from amyloidosis, which is a complication of the condition.... familial mediterranean fever

Polyposis, Familial

A rare, inherited disorder, also known as polyposis coli, in which many polyps are present throughout the gut, but mainly in the colon. If not treated, cancer of the colon (see colon, cancer of) is almost certain to develop. The polyps may appear from age 10. They may cause bleeding and diarrhoea; however, there are often no symptoms until cancer has developed. The polyps are detected by colonoscopy.

Since there is a 50 per cent chance that children of an affected person will inherit the disease, medical surveillance is necessary from around the age of 12.

Individual polyps may be cauterized (see cauterization).

The high risk of developing cancer often means that a colectomy and an ileostomy are performed.... polyposis, familial

Familial Adenomatous Polyposis

(FAP) see polyposis.... familial adenomatous polyposis

Familial Mixed Hyperlipidaemia

see hyperlipidaemia.... familial mixed hyperlipidaemia

Fatal Familial Insomnia

an autosomal *dominant disorder due to a mutation in the gene for the *prion protein (PrP): it is an example of a *spongiform encephalopathy. Patients present with intractable progressive insomnia, disturbances of the autonomic nervous system, and eventually dementia.... fatal familial insomnia



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