Familial Hypoalphalipoproteinemia
Done by: •Naeema alnoufly •Laila Alkurbi •Wafa •Zainab
Definition What is Familial Hypoalphalipoproteinemia? A rare disorder characterized by a low level of HDL or HA in the blood.
What is going on in the body? This occuss when there is a lack of gene to make certain protein (Apolipoprotein A1)in the body . Which is usually transports fats from tissues to where it is needed.
symptoms • • • • • •
Absence of apoprotein B-100 Acanthocytosis (spiny cell) Low/absent serum betalipoproteins Hypercholesterolemia Steatorrhea Ataxia
• Nystagmus • http:// video.google.com/videoplay?docid =83290528059760181 • Retinitis pigmentosa • Neurological symptoms • Muscle weakness • Balance problems • Degeneration of the retina • Loss of vision
Treatment • Lifestyle changes including avoiding the use of alcohol and cigarettes. • Exercising regularly, especially aerobic exercise • Weight loss • Niacin • Fibrates (for example, or fenofibrate) • Statins (for example, pravastatin, fluvastatin.
THE INHERITED AND CAUSES OF FAMILIAL HYPOALPHALIPOPROTEIN EMIA
• Hypoalphalipoproteinemia is a high density lipoprotin deficiency, inherited in an autosumol dominant manner • An autosome is a non-sex chromosome. It is an ordinarily paired type of chromosome that is the same in both sexes of a species
• Differential diagnosis involves clinical and biochemical evaluation after intervention designed to correct known secondary causes of low HDL. • Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia.
• Also there are other causes for Hypoalphalipoproteinemia such as: • Smoking.
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