Phenotypical features of a heterozygous form of familial hypercholesterolemia

Aim. To conduct a quantitative and qualitative analysis of phenotypical manifestations in patients with a heterozygous form of familial hypercholesterolemia (FHC) and to reveal factors involved in their development. Material and methods. A total of 247 patients with a clinical diagnosis of heterozygous FHC participated in the trial. Clinical manifestations of the disease in men and women were analysed and compared. Blood lipids were compared to those in the controls. A correlation analysis was used to reveal correlations between symptoms of the disease and lipid levels in the blood. Results. Tendon xanthomas were most frequent (79916) clinical sign with location primarily in Achilles' tendon. Incidence of basic clinical manifestations increased with age and significantly correlated with LDLP cholesterol. Two clinical signs were seen in 113 of the patients, three - in 13% (sex differences were insignificant). Mean levels of total cholesterol and LDLP serum cholesterol in heterozygous patients were 1.9 and 2.5 times higher than in the controls. Total cholesterol was significantly higher in women. A mean level of HDLP cholesterol was significantly lower while triglycerides were higher than in the control group. The disease symptoms manifested in men 5 years earlier than in women, FHC was diagnosed in men 7 5 years earlier. Conclusion. Patients with heterozygous FHC are characterized by higher levels of LDLP cholesterol, lower level of HDLP cholesterol and higher triglycerides in the serum than in healthy controls. Sex-related differences by severity and prevalence of basic symptoms in heterozygous FHC patients were not found. The time of clinical symptoms appearance and diagnosis evidences for more rapid progression of the disease in men.