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Report of two families of monogenic familial hypercholesterolemia like phenotype

HE Jin-chun1,2, ZHOU Shan-shan2, LI Yan-ping1, YAO Li-qiong1, SU Na1, CHEN Bao-jin1, LI Lin1, HE Jin-xiang3   

  1. 1.Department of Laboratory， the First Hospital of Lanzhou University， 2.Department of Postgraduate, the First Clinical College of Lanzhou University， 3.Department of Radiation， the First Hospital of Lanzhou University， Lanzhou 730000， China
  • Online:2015-02-28 Published:2015-02-27
  • Supported by:

    National Key Technology Research and Development Program of China during the “10th FiveYear” Plan，2002DA711A028-17； Science and Technology Infrastructure Platform of Ministry of Education， 505015；Natural Science Foundation of Gansu Province， 1308RJZA218, 2011y0217； China Scholarship Council; Horizontal Subject Foundation, 2012620111000212

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Abstract:

Objective To report 2 families of monogenic familial hypercholesterolemia and their pedigree analysis and to improve the understanding of familial hypercholesterolemia. Methods The pedigree, biochemical results, and clinical data of 2 families of monogenic familial hypercholesterolemia were analyzed. Results There were 17 patients among 22 surviving members of two families. The onset of homozygous patients was earlier. Typical xanthoma was found among them. Their serum total cholesterol and low density lipoprotein cholesterol significantly increased. Triglycerides were normal. Electrocardiogram changes caused by the myocardial ischemia was discovered in the early stage. Conclusion The onset of this disease is early and can cause serious damages. Patients should undergo the early lipid-lowering therapy.

Key words: familial hypercholesterolemia, family, phenotype