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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