[Clinical manifestations of familial hypercholesterolemia].

Familial hypercholesterolaemia (FH) is an autosomal-dominant inherited disorder clinically characterized by high serum cholesterol (low-density lipoprotein--LDL-fraction) concentrations, xanthomas and premature atherosclerosis. Homozygous individuals suffer from vascular disease in childhood or young adolescence since heterozygous persons are usually at ligh risk of premature cardiovascular death. We present a 42-year old female with coronary heart disease and tuber and tendinous xanthomas, which appeared as a consequence of delayed diagnosis of familial hypercholesterolaemia. She was admitted to the hospital due to unstable angina pectoris. On admission the patient was haemodinamically compensated. Cardiac rhythm was regular and heart sounds were of normal intensity. She also presented two systolic murmurs. The first, the ejection murmur had maximal intensity in the second right intercostal space and radiated to the appex. The second murmur was regurgitant, generated at the appex and propagated to the anterior aixllary line. On inspection, we observed xanthomas in Achillis tendons and palmar extensors as well as tuberous xanthomas in the knees and fingers of both hands and feet. We also observed bilateral xantholasms. Arcus corneae was detected by ophthalmological examination. On admittance, the cholesterol serum level was 13.2 mmol/L, and LDL fraction was 7.6 mmol/L. Echocardiography revealed sclerosis of the aortic valve and mitral annulus. Coronarography documented the three-vessel disease. An aggressive medical treatment, which consisted of bile salts and HMGCoA reductase inhibitors, resulted in significant lowering of serum cholesterol--more than 30%. However, due to refractory angina pectorts, she had to be operated on and aorto-coronary by-pass was performed.