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Dolina Gencheva

Dolina Gencheva

Medical University of Plovdiv, Bulgaria

Title: Diffi culties in the treatment of a 12-old patient with familial hypercholesterolemia and the inclusion of a PCSK 9-inhibitor


Biography: Dolina Gencheva


The case report concerns a 12 year old boy with genetically diagnosed compound heterozygous form of familial hypercholesterolemia, who first presented with xanthomas on both knees and elbows and a family history of early coronary artery disease and sudden cardiac death. Before the initiation of lipid lowering treatment at the age of 11, the patient’s level of total and LDL cholesterol were 18 mmol/l and 15 mmol/l, respectively. Over the course of several months, the treatment with a statin and a cholesterol absorption inhibitor achieved a 50% decrease of LDL cholesterol level without reaching the absolute recommended target of 3.5 mmol/l. Additional tests of the boy showed initial fibro-degenerative changes of his mitral valve annulus and aortic valve, while his intima media thickness and cardio-pulmonary test were normal. Considering the high risk of early onset atherosclerosis and cardiovascular mortality as well as the unavailability of LDL-apheresis, the patient’s case was reviewed by a national committee, consisting of a cardiologist, a pediatrician and an endocrinologist and approved for adjuvant treatment with a PCSK 9-inhibitor with the consent of his parent.=