Clinical & Experimental Cardiology
Open Access

Difficulties in the treatment of a 12-year-old patient with familial hypercholesterolemia and the inclusion of a PCSK 9-inhibitor

World Cardiology & Cardiologist Meeting

September 11-12, 2018 | Stockholm, Sweden

Dolina Gencheva,Lyudmila Vladimirova-Kitova,Fedya Nikolov, Spas Kitov, Lubov Chochkova, Arman Postadzhiyan,Marin Kanarev, Jeop Defesche,Robert Stoekenbroek and G Kees Hovingh

Plovdiv Medical University, Bulgaria
UMBAL Sv. Georgi-Plovdiv UniversityHospital, Bulgaria
Medical University, Bulgaria
Academic Medical Center, Netherlands

Scientific Tracks Abstracts: J Clin Exp Cardiology

Abstract :

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 patientâ??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 patientâ??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.

Biography :

Dolina Gencheva has completed her Graduation in Medicine in 2014 at Medical University, Plovdiv, Bulgaria and is currently specializing in the field of Cardiology at the University Hospital Sveti. Georgi-Plovdiv. She is the first author of one article, published in a referenced medical journal, co-author of several other journals with impact factors.

E-mail: sylvanas@mail.bg