Familial Hypercholesterolemia Complicated with Aortic Valve Stenosis and Carotid Stenosis:A Case Report and Lit-erature Review
ZHOU Jia-jun
SHAO Sen
Abstract：Objective To explore the clinical characteristics, and key points of diagnosis and treatment of familial hypercholesterolemia ( FH) . Methods Clinical date of one patient with FH in our hospital was retrospectively analyzed, and related literature was reviewed. Results A 17-year-old female patient was admitted for chest distress and shortness of breath after exercise for 5 years and aggravated for 1 month. The patient developed xanthomas at the elbows at the age of 4 and under-went surgery. However, one year later, the xanthomas relapsed. The patient was diagnosed as having congenital heart disease and hyperglycemia before admission to our hospital. Although she had been given by, the patient failed to respond to lipid-low-ering treatment. After transfer to our hospital, her concentration of cholesterol was elevated significantly. The ultrasound ex-amination indicated aortic valve stenosis and carotid stenosis. In addition, her family members were found to have hyperglyce-mia or xanthoma, then the diagnosis of homozygous FH was made. The symptoms were alleviated after the treatment of cardio-tonic, diuretic, lipid-lowering and antiplatelet. The patient denied the LDL-apheresis. One year follow-up showed a poor con-trol of blood lipid. Conclusion Patients with homozygous FH may progress rapidly to premature cardiovascular disease. Early diagnosis and treatment of FH can help to delay the development of the disease.
Keywords：Hypercholesterolemia ⅡAortic stenosissuprav alvularCarotid stenosisMisdiagnosis
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 42-44 )