Hypobetalipoproteinemia, familial, 2

Common Name(s)

Hypobetalipoproteinemia, familial, 2

Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; {246700}), abetalipoproteinemia ({200100}), and familial hypobetalipoproteinemia (FHBL) (summary by {2:Martin-Campos et al., 2012}). For a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 ({615558}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypobetalipoproteinemia, familial, 2" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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