Hypercholesterolemia Familial: Early Cardiovascular Complications, Treatment Challenges, and the Fatal Consequences of Delayed Diagnosis: an in-Depth Case Study

Mina Boutgourine *

Department of Cardiology, Mohammed VI University Hospital Center, Marrakech, Morocco.

Hafssa Rouam

Department of Cardiology, Mohammed VI University Hospital Center, Marrakech, Morocco.

Mohammed El Jamili

Department of Cardiology, Mohammed VI University Hospital Center, Marrakech, Morocco.

Mustapha El Hattaoui

Department of Cardiology, Mohammed VI University Hospital Center, Marrakech, Morocco.

*Author to whom correspondence should be addressed.


Abstract

Familial Hypercholesterolemia (FH) is among the most common genetic disorders, present from birth. The transmission is mainly autosomal dominant. It is characterized by a exclusive increase in low-density lipoproteins (LDL). It is associated with a high risk of premature cardiovascular complications. The diagnosis of FH is generally based on the clinical presentation or genetic tests. The commonly used criteria are those of the Dutch Lipid Clinic Network. FH is a hereditary condition still largely underdiagnosed and undertreated. The prognosis of the disease is related to atheromatous cardiovascular complications, which, in the absence of treatment, lead to the patient's death in the first three decades, often due to myocardial infarction or sudden death. The management of familial hypercholesterolemia systematically involves two categories of measures: so-called hygienic-dietary measures associated with the treatment of other risk factors when they exist, and drug treatments. Familial hypercholesterolemia is still poorly detected. It is necessary to develop systematic approaches to identify patients with FH, conduct cascade screening of their relatives, and increase awareness and control of FH.

Keywords: Familial hypercholesterolemia, LDL-cholesterol, atherosclerosis, Cardiovascular risk, aortic stenosis, cardiovascular diseases, recommendations, lipid-lowering drugs, LDL Apheresis


How to Cite

Boutgourine , M., Rouam, H., Jamili, M. E., & Hattaoui , M. E. (2024). Hypercholesterolemia Familial: Early Cardiovascular Complications, Treatment Challenges, and the Fatal Consequences of Delayed Diagnosis: an in-Depth Case Study. Cardiology and Angiology: An International Journal, 13(1), 54–74. https://doi.org/10.9734/ca/2024/v13i1394

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