What are the variants of low HDL cholesterol (hypoalphalipoproteinemia)?

Updated: May 21, 2021
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
  • Print
Answer

Table. Hypoalphalipoproteinemia (Open Table in a new window)

Variant

Molecular Defect

Inheritance

Metabolic Defect

Lipoprotein Abnormality

Clinical Features

Premature Atherosclerosis

Familial apo A-I

Apo deficiency

Autosomal codominant

Absent apo A-1 biosynthesis

HDL < 5 mg/dL; TGs normal

Planar xanthomas, corneal opacities

Yes

Familial apo A-I structural mutations

Abnormal apo A-I

Autosomal dominant

Rapid apo A-1 catabolism

HDL 15-30 mg/dL; TGs increased

Often none; sometimes corneal opacities

No

Familial LCAT

LCAT deficiency (complete)

Autosomal

recessive

Rapid HDL catabolism

HDL < 10 mg/dL; TGs increased

Corneal opacities, anemia, proteinuria, renal insufficiency

No

Fish-eye disease

LCAT deficiency (partial)

Autosomal recessive

Rapid HDL catabolism

HDL < 10 mg/dL; TGs increased

Corneal opacities

No

Tangier disease

Unknown

Autosomal codominant

Very rapid HDL catabolism

HDL < 5 mg/dL; TGs usually increased

Corneal opacities, enlarged orange tonsils, hepatosplenomegaly, peripheral neuropathy

No to yes

Familial HA

Unknown

Autosomal dominant

Usually rapid HDL catabolism

HDL 15-35 mg/dL; TGs normal

Often none; sometimes corneal opacities

No to yes

 

Variant apolipoproteins

The variant apo A-I Milano, as well as the less well-known variants apo A-I Marburg, apo A-I Giessen, apo A-I Munster, and apo A-I Paris, cause HA but do not seem to increase the risk of atherosclerosis.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!