Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia

Kei Sasaki; Kei Sasaki; Hayato Tada; Masa-aki Kawashiri; Toshimitsu Ito

doi:10.3389/fcvm.2022.942772

Frontiers in Cardiovascular Medicine (Aug 2022)

Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia

Kei Sasaki,
Kei Sasaki,
Hayato Tada,
Masa-aki Kawashiri,
Toshimitsu Ito

Affiliations

Kei Sasaki: Department of Internal Medicine, Self-Defense Forces Central Hospital, Tokyo, Japan
Kei Sasaki: Division of Anti-aging, Department of Internal Medicine, National Defense Medical College, Tokorozawa, Japan
Hayato Tada: Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Kanazawa, Japan
Masa-aki Kawashiri: Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Kanazawa, Japan
Toshimitsu Ito: Department of Internal Medicine, Self-Defense Forces Central Hospital, Tokyo, Japan

DOI: https://doi.org/10.3389/fcvm.2022.942772
Journal volume & issue: Vol. 9

Abstract

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Type 1 familial hypobetalipoproteinemia (FHBL1), characterized by low levels of apolipoprotein B (ApoB)-containing lipoproteins, elevation of transaminases, and hepatic steatosis, is a rare disease the prevalence of which is 1 in 3,000 among general population. Here we report an extremely rare family where phenotypes of familial hypercholesterolemia (FH) are canceled by coexistence of FHBL1 caused by an truncating mutation in apolipoprotein B (APOB).

Published in Frontiers in Cardiovascular Medicine

ISSN: 2297-055X (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://www.frontiersin.org/journals/cardiovascular-medicine

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