Abstract
Homozygous familial hypercholesterolemia is caused by mutations in the low-density
lipoprotein receptor gene. It is diagnosed in children or youth who present with extensive
tendinous and cutaneous xanthomas and extreme elevation of low-density lipoprotein
cholesterol. Untreated, premature coronary artery disease develops in the teenage
years or earlier and survival to ages older than 30 years is rare. Herein we describe
the clinical course of a patient with homozygous familial hypercholesterolemia treated
according to the standards of care and experimental approaches. Despite aggressive
therapies, atherosclerosis in all vascular beds progressed, leading to the patient’s
demise at age 59 years, highlighting the importance of early diagnosis and appropriate
follow-up.
Résumé
L’hypercholestérolémie familiale homozygote est causée par des mutations du gène des
récepteurs des lipoprotéines de basse densité. Elle est diagnostiquée chez des enfants
ou des jeunes qui présentent un grand nombre de xanthomes tendineux et cutanés et
une élévation extrême du taux de cholestérol des lipoprotéines de basse densité. En
l’absence de traitement, une coronaropathie prématurée s’installe à l’adolescence
ou avant, et la survie du patient au-delà de 30 ans est rare. Nous décrivons ici l’évolution
clinique de l’hypercholestérolémie familiale homozygote chez un patient ayant reçu
les soins de référence et des traitements expérimentaux. Malgré des traitements vigoureux,
l’athérosclérose a évolué dans tous les lits vasculaires, menant au décès du patient
à l’âge de 59 ans, ce qui souligne l’importance d’un diagnostic précoce et d’un suivi
approprié.
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References
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Article info
Publication history
Published online: June 13, 2019
Accepted:
June 8,
2019
Received:
May 1,
2019
Footnotes
See page 1419.e3 for disclosure information.
Identification
Copyright
© 2019 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
