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Familial Hypercholesterolemia and Xanthomatosis Associated with Diabetes Mellitus

Source: www.sim.org.tw
Topic: Familial hypercholesterolemia
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Sort Desciption: Familial hypercholesterolemia is a monogenic 1 , autosomal dominant 2 disorder due to mutations in the gene for the LDL receptor 3, characterized by xanthomas 4, xanthelasma and premature arcus corneae 5. ...

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Familial hypercholesterolemia is a monogenic 1 , autosomal dominant 2 disorder due to mutations in the gene for the LDL receptor 3, characterized by xanthomas 4, xanthelasma and premature arcus corneae 5. Our report concerns a 35-year-old female patient who developed xanthomas since the age of 12 and was diagnosed as having mixed primary familial hypercholesterolemia and secondary hyperlipidemia due to diabetes mellitus, and osteomyelitis. The significance, characteristic features, diagnosis and treatment of familial hypercholesterolemia are discussed.

Case Report
A 35-year-old female developed weight loss of more than 10 kg over one month, accompanied by poor appetite, polyuria and polydipsia. She also had a one-month old non-healing wound over her right foot, persistent left thigh and knee pain and swelling for a few weeks and mild fever for one week. She visited our endocrinology OPD, hyperglycemia was detected (random blood glucose: 586 mg/dl) and she was admitted for further evaluation and treatment.

On questioning the patient, it was found that she is the fourth in a family of 5 children and is a teetotaler. There was no history of consanguinity. Her father, who developed diabetes at the age of 50 and died due to acute myocardial infarction at the age of 75 years, did not have hypercholesterolemia. Her mother has both xanthelasma and hypercholesterolemia, but no diabetes mellitus. Her eldest sister and both brothers have hypercholesterolemia. Only one sister does not have hypercholesterolemia. Her pedigree is shown in Fig. 1.

She had a past history of multiple nodules, initially developing over both elbows and knees at the age of 12 years, and then occurring over the knuckles of the hands, buttocks and feet for the last 6 years. She sought medical evaluation at the age of 20, and was diagnosed as having hypercholesterolemia. She took lipid lowering drugs for 2 years, but then stopped as the lesions did not subside. She had no past history of diabetes mellitus.

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