Prevalence of Cardiovascular Risk Factors and Heterozygous Familial Hypercholesterolemia in Premature Atherosclerotic Patients Presenting with Acute Coronary Syndrome

Background: Heterozygous familial hypercholesterolemia is an autosomal dominant genetic disorder with an estimated prevalence of 1/200 - 1/500 in the general population. Early identification of patient with familial hypercholesterolemia is important, because appropriate treatment may reduce the risk of premature atherosclerosis. Objective: Assessment of the prevalence of different modifiable cardiovascular risk factors and clinical diagnosis of heterozygous familial hypercholesterolemia. Methods: One hundred patients were enrolled, included young patients (males less than 50 years and females less than 60 years old) presented with first attack of acute coronary syndrome either ST elevation myocardial infarction (STEMI), non ST elevation myocardial infarction (NSTEMI) or unstable angina (UA). All patients were subjected to full history taking, general and local examination, Electrocardiogram, transthoracic Echocardiography, laboratory investigations, coronary angiography and Dutch score calculation for familial hyperlipidemias. Results: The mean level of serum cholesterol among studied group was 268.31 ± 59.33, HDL-C was 39.63 ± 7.52, LDL was 192.27 ± 60.61 and TG was 180.10 ± 39.64. With application of Dutch score, 20% of patients diagnosed definite familial hypercholesterolemia with Dutch score > 8. Twenty-six percent of patients diagnosed as probable familial hypercholesterolemia with Dutch score 6 - 8. Thirty-nine percent patients diagnosed as possible familial hypercholesterolemia with Dutch score 3 - 5 and 15% of patients were unlikely familial hypercholesterolemia with Dutch score < 3 with significant correlation between Dutch score and age, total cholesterol, LDL-C, serum creatinine. Conclusion: Familial hypercholesterolemia (FH) is one of the most common serious genetic disorders of cholesterol metabolism. The early identification of heterogynous FH patients is crucial to start an effective prevention strategy.

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa

Dear Editor,I am Dr.Ji-Hong Wu,from the Department of Ophthalmology,Eye＆ENT Hospital of Fudan University,China.I write to present a case report of retinitis pigmentosa（RP）caused by novel digenic heterozygous mutations in a Chinese family.