This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Low HDL in familial hypoalphalipoproteinaemia

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

characterised by:

  • reduced HDL (< 0.78 mmol/L) in males; <0.90 mmol/L) in females)
  • premature coronary artery disease (CAD)
  • 1% of general population

  • 25-30% of patients with premature CAD

Familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous:

  • familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous; one form is associated with abnormal cellular cholesterol efflux caused by heterozygous mutations at the ABCA1 gene, that defines familial HDL Deficiency while homozygous mutations or compound heterozygocity causes Tangier Disease
  • other forms are primary hypoalphalipoproteinemia of unknown cause, while the remaining cases are associated with hypertriglyceridemia with or without elevated apoB levels
  • a cellular cholesterol defect is a relatively frequent cause of familial HDL deficiency and that a mutation at the ABCA1 gene can be identified in half of these patients (1)

Reference:

  1. Atherosclerosis 2000 Oct;152(2):457-68

Related pages

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.