Download - Familial Hypoalphalipoproteinemia
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)(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
HYPOALPHALIPOPROTEINEMIA
• 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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