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    Familial Hypoalphalipoproteinemia

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    caramel109
    Familial hypoalphalipoproteinemia is a rare genetic disorder characterized by abnormally low levels of HDL cholesterol in the blood. It occurs due to a lack of the ApoA1 gene which produces a protein that transports fats from tissues to other parts of the body. Symptoms can include low cholesterol, fatty stool, lack of coordination, vision problems, and neurological issues. Treatment focuses on lifestyle changes like diet and exercise as well as medications like niacin, fibrates, and statins to raise HDL levels. The condition is inherited in an autosomal dominant pattern and can be caused by decreased efflux of cellular cholesterol.

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    Familial Hypoalphalipoproteinemia

    Uploaded by

    caramel109
    516 views13 pages
    Familial hypoalphalipoproteinemia is a rare genetic disorder characterized by abnormally low levels of HDL cholesterol in the blood. It occurs due to a lack of the ApoA1 gene which produces a protein that transports fats from tissues to other parts of the body. Symptoms can include low cholesterol, fatty stool, lack of coordination, vision problems, and neurological issues. Treatment focuses on lifestyle changes like diet and exercise as well as medications like niacin, fibrates, and statins to raise HDL levels. The condition is inherited in an autosomal dominant pattern and can be caused by decreased efflux of cellular cholesterol.

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    Familial Hypoalphalipoproteinemia

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    Familial hypoalphalipoproteinemia is a rare genetic disorder characterized by abnormally low levels of HDL cholesterol in the blood. It occurs due to a lack of the ApoA1 gene which produces a protein that transports fats from tissues to other parts of the body. Symptoms can include low cholesterol, fatty stool, lack of coordination, vision problems, and neurological issues. Treatment focuses on lifestyle changes like diet and exercise as well as medications like niacin, fibrates, and statins to raise HDL levels. The condition is inherited in an autosomal dominant pattern and can be caused by decreased efflux of cellular cholesterol.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPT, PDF, TXT or read online from Scribd
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    516 views13 pages

    Familial Hypoalphalipoproteinemia

    Uploaded by

    caramel109
    Familial hypoalphalipoproteinemia is a rare genetic disorder characterized by abnormally low levels of HDL cholesterol in the blood. It occurs due to a lack of the ApoA1 gene which produces a protein that transports fats from tissues to other parts of the body. Symptoms can include low cholesterol, fatty stool, lack of coordination, vision problems, and neurological issues. Treatment focuses on lifestyle changes like diet and exercise as well as medications like niacin, fibrates, and statins to raise HDL levels. The condition is inherited in an autosomal dominant pattern and can be caused by decreased efflux of cellular cholesterol.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPT, PDF, TXT or read online from Scribd
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    of 13

    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.
    No0o Questions
    please

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