Endocrine Abstracts

JOINT2271

Introduction: Familial hypercholesterolemia (FH) is a prevalent autosomal co-dominant disorder within the group of primary dyslipidemias, characterized by elevated plasma cholesterol levels, particularly low-density lipoprotein cholesterol (LDL-C), which is significantly increased. FH results in early-onset and progressive cardiovascular disease (CVD), often becoming clinically evident during childhood and adolescence. As a result, it is crucial to tightly regulate cholesterol metabolism. Early diagnosis and prompt, intensive treatment are essential for managing the condition.

Patients et Methods: This case report outlines the situation of a patient diagnosed with familial hypercholesterolemia, who is currently under follow-up in the Endocrinology, Diabetology and Metabolic diseases department of the Mohamed VI university hospital center in Marrakech.

Results: A 17-year-old patient with no significant medical history presented for screening for familial hypercholesterolemia (FH). Her father and sister were already being treated for FH in our department. Born to non-consanguineous parents, her developmental milestones were reported as normal. There is no history of chest pain, shortness of breath, hypertension, diabetes, hypothyroidism, or other chronic conditions, and she is not taking any medications. On clinical examination, aside from moderate obesity, particularly in the abdominal area, she exhibited a buffalo hump and acanthosis nigricans. Her lipid profile showed a total cholesterol level of 282 mg/dl, LDL at 202 mg/dl, while triglycerides and HDL cholesterol were within normal ranges. Further investigations into the underlying cause and potential cardiovascular complications were normal. The patient was advised to follow a low-cholesterol diet, prescribed Rosuvastatin 10 mg, and scheduled for follow-up.

Conclusion: Diagnosing FH is crucial not only for the patient’s prognosis but also for the family members who might inherit the condition. Early identification and prompt treatment can extend the lives of these patients and help prevent cardiovascular complications.

Keywords: Familial hypercholesterolemia, CVD, LDL cholesterol.