[Homozygous familial hypercholesterolemia]

Familiar hypercholesterolemia (FH) is genetic disease characterized with extremely high levels of cholesterol leading to cholesterol deposition in skin and tissues and premature atherosclerosis due to defective LDL receptors. In homozygous individuals (HoFH) premature cardiovascular (CV) events and aortic stenosis could develop at very early ages due to the exposure of the vessels including aorta to high lipid levels since birth. Patients with HoFH do not respond to conventional antilipid agents including statins due to defective LDL receptors. Therefore,LDL apheresis is still the only choice of treatment in HoFH. However, in order to prevent both the development of CV events and aortic stenosis, regular apheresis should be initiated before the age of 10 years. With the knowledge of the 21.2% consanguineous marriages in Turkey, it could be suggested that the prevalence of FH is high in our country. However, the frequency of HoFH in Turkey is not known and there is limited data on prognosis in long term studies. This limited data denotes an extremely high mortality and morbidity in patients with HoFH. The main problem in these patients is late diagnosis leading to a delayed treatment. However, early diagnosis is the key factor for the prevention of premature atherosclerosis and for ensuring long-term survival in HoFH. Moreover, FH is a genetic disease that could be easily diagnosed with a detailed family history, physical examination, and assessment of lipid levels. In order to commence early diagnosis and early treatment, awareness of the physicians should be increased. Particularly raising the awareness among primary care physicians regarding high cholesterol levels in children and adolescents would be a substantial step. Public should realize that FH is a common disease with high mortality, and that the harms of high cholesterol begin in childhood. In order to achieve all these goals, National policy for the diagnosis and management of AH is warranted.