Highlights
- •Very low albumin levels are associated with hypercholesterolemia.
- •Congenital analbuminemia (CAA) is a rare cause of hyperlipidemia.
- •CAA is established by genetic testing of ALB.
- •Early diagnosis may enable earlier lipid therapy to prevent coronary artery disease.
- •This is the first report of PCSK9 inhibitor for hyperlipidemia associated with CAA.
A 20-year-old male presented with severe elevation in low-density lipoprotein cholesterol
(LDL-C). Initial genetic testing for familial hypercholesterolemia was negative. Patient
also had low albumin, and further genetic testing showed homozygous variants in the
ALB gene, suggesting congenital analbuminemia (CAA) causing severe hyperlipidemia. CAA
is an autosomal recessive disorder with incidence of about 1:1,000,000. The gene for
albumin is a single autosomal gene, and pathological variants that affect splicing
lead to premature stop, nonsense variants, and deletions that result in a defect in
albumin synthesis with CAA. CAA can be fatal in the prenatal period and cause infections
in early childhood. CAA is tolerated better in adulthood because of compensatory increase
in other plasma proteins. Plasma lipoproteins also increase, and CAA can cause gross
hyperlipidemia with severe elevations in LDL-C and hypercholesterolemia. Genetic examination
of ALB is mandatory to establish the diagnosis. Early diagnosis may be important to initiate
lipid-lowering treatments to avoid premature coronary artery disease.
Keywords
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Article info
Publication history
Published online: November 09, 2022
Accepted:
October 31,
2022
Received:
June 7,
2022
Identification
Copyright
© 2022 National Lipid Association. Published by Elsevier Inc. All rights reserved.
