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

OBJECTIVES

Familiar hypercholesterolemia (FH) is a genetic disease characterized with extremely high levels of cholesterol leading to premature atherosclerosis. In homozygous individuals (HoFH) cardiovascular events could develop in childhood. In this article, long-term clinical experience with adult HoFH patients who are followed in Department of Cardiology, Ege University Faculty of Medicine is presented.

STUDY DESIGN

Seventeen HoFH patients (11 females, 6 males) who are being followed between the years 2000-2013 were included. 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 was 31 ± 10 years at admission to our clinic. First diagnosis age was 25 ± 14. At diagnosis, mean cholesterol level was 625 ± 136 mg/dl. Admission complaints were dermatologic (41%) and ischemic symptoms (41%). A total of 3 patients (18%) were diagnosed during family screening. 65% of the patients' parents had consanguineous marriage. Xantomas was present in 59%, aortic valve pathology in 59%, and carotid artery plaques in 47%. Coronary artery disease was documented in 59%. Though all patients had indication for apheresis, 10 patients received apheresis due to high refusal rate. Age at the first apheresis was 27 ± 12 (minimum 10-maximum 42) and adherence to apheresis was 60%. With 2 years regular apheresis skin depositions were vanished, however carotid atherosclerosis and aortic pathology progressed. During the 43 ± 42 months follow-up, 4 patients died (mean age: 25 ± 5).

CONCLUSION

Diagnosis is late in HoAH. Due to the delayed treatment of lipid apheresis, atherosclerosis and aortic stenosis progress in these patients. The awareness of the physicians and knowledge of the public is warranted.