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Case Report
Family hypercholesterolemia revealed by myocardial infarction: Case report and literature data
1 Department of Cardiology, Chu-Ibn ROCHD, Casablanca, Morocco
2 Department of Cardiology, Notre Dame de la Miséricorde Center Hospital, Ajaccio, France
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Noël Maschell Mahoungou-Mackonia
Department of Cardiology, Ibn ROCHD University Hospital, Casablanca,
Morocco
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Article ID: 101383Z01NM2023
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Mahoungou-Mackonia NM, Fadoul A, Mahamadou C, Drighil A, Couderq C, Habbal R. Family hypercholesterolemia revealed by myocardial infarction: Case report and literature data. Int J Case Rep Images 2023;14(1):57–60.ABSTRACT
Introduction: Familial hypercholesterolemia is a monogenetic, autosomal dominant, heterozygous predominant disease that affects 1/500 births and only 20% of cases are diagnosed. Diagnosis is based on the MedPed score, which includes family history, clinical manifestations, complications, and hypercholesterolemia determined by biological tests with genetic confirmation of the mutation. Complications occur early, before the age of 55 in men and 60 in women, and are even more virulent in the homozygous form. Thus, we relate this clinical case to its underestimation, low prevalence, and especially its virulence.
Case Report: A 31-year-old, non-obese patient with a history of stroke in the mother at the age of 52 years, acute coronary syndrome on two occasions at the age of 44 years in the older brother. He was admitted to the hospital with a revascularized myocardial infarction in the right coronary artery by primary angioplasty. The clinical examination was normal, the lipid profile showed hypercholesterolemia (HCT) with low-density lipoprotein (LDL)-CT=3.64 g/L, high-density lipoprotein (HDL)-CT=0.32 g/L, and triglyceride (TG)=2.1 g/L. The MedPed score was 12 points with one copy of the LDL receptor gene on the genetic sample. The patient received high-dose lipid-lowering drugs combined with healthy dietary measures. Genetic screening of the rest of the family was performed.
Conclusion: Familial hypercholesterolemia is a poorly understood disease, diagnosed late, usually after the onset of complications, requiring early family screening, drug treatment with very potent lipid-lowering drugs at a tolerated effective dose, as early as eight years of age if the diagnosis is confirmed based on the MedPed score.
Keywords: Familial hypercholesterolemia, MedPed score, Myocardial infarction, Right coronary
SUPPORTING INFORMATION
Author Contributions
Noël Maschell Mahoungou-Mackonia - Substantial contributions to conception and design, Acquisition of data, Drafting the article, Final approval of the version to be published
A Fadoul - Revising it critically for important intellectual content, Final approval of the version to be published
C Mahamadou - Acquisition of data, Revising it critically for important intellectual content, Final approval of the version to be published
A Drighil - Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
C Couderq - Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
R Habba - Interpretation of data, Drafting the article, Final approval of the version to be published
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2023 Noël Maschell Mahoungou-Mackonia et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
