Long-term follow-up of patients with homozygous familial hypercholesterolemia; A 13-year experience of a university hospital lipid clinic

Objectives: Familial hypercholesterolemia (FH) is a genetic disease characterized by extremely high levels of cholesterol leading to premature atherosclerosis. In homozygous indi-viduals (HoFH) cardiovascular events could develop in child-hood. In this article, long-term clinical experience with adult HoFH patients who were followed in the Department of Cardiology, Ege University Faculty of Medicine was presented. Study design: Seventeen HoFH patients (11 females, 6 males) who were being followed between the years 2000-2013 were included in the study. All data including clinical characteristics, family history, lipid levels, treatment, lipid-apheresis, cardiovascular events, complications were obtained retrospectively from patient chart records. Results: Mean age on admission was 31 +/- 10 years, age at first diagnosis was 25 +/- 14. years. Mean cholesterol level at diagnosis was 625 +/- 136 mg/dl. Admission complaints were dermatologic (41%) and ischemic symptoms (41%), whereas 3 patients (18%) were diagnosed during family screening. Sixty-five percent of the cases were children of consanguineous marriage. Xanthomas were present in 59%, aortic valve pathology in 59%, and carotid ar-tery plaques in 47% of the patients. Coronary artery disease was documented in 59% of the cases. Though all patients had indications for apheresis, it could be performed only in 10 patients dur to high refusal rate of the patients. Mean age at the first session of apheresis was 27 +/- 12 years (minimum 10-maximum 42) and adherence to apheresis was 60%. After 2 years of regular apheresis skin depositions were vanished, however carotid atherosclerosis and aortic pathology progressed. During a mean follow-up of 43 +/- 42 months, 4 patients died (mean age: 25 +/- 5 years). Conclusion: Patients with HoFH are subject to late diagnosis. Due to the delayed initaition of the treatment with lipid apheresis, atherosclerosis and aortic stenosis progress in these patients. The awareness of the physicians and knowledge of the public concerning this disease is warranted.