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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

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