Familial hypercholesterolemia revealed by multiple xanthomas

Familial hypercholesterolemia revealed by multiple xanthomas

Nassiba Elouarradi^1,&, Nawal El Ansari¹

¹Service of Endocrinology, Diabetology and Metabolic Diseases, University Hospital of Marrakech, Marrakech, Morocco

^&Corresponding author
Nassiba Elouarradi, Service of Endocrinology, Diabetology and Metabolic Diseases, University Hospital of Marrakech, Marrakech, Morocco

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Familial hypercholesterolemia (HF) is a rare pathology characterized by a major elevation of LDL associated with tendinous and subcutaneous xanthomas. We report the case of a 16-year-old patient, born from a first degree consanguineous marriage, with no particular pathological antecedents, the patient reports appearance for 9 years of cutaneous lesions described as a swellings in the posterior face of the 2 elbows and the anterior surface of the 2 knees, painless, firm, and gradually increasing in volume. The patient consulted only at the age of 16 years in front of the aesthetic discomfort. The biological assessment objectified a hypercholesterolemia: total Cholesterol: 4.44g/l. HDL: 0.64g/l. LDL: 3.71g/l. and Triglycerides: 0.67g/l. The exploration of cardiac repercussion was without particularities.The patient was treated with dietary and lifestyle measures and atorvastatin 80 mg with good clinical and biological evolution.

Figure 1: xanthoma on the posterior face of the elbow