Mustafa Aslam, Amna Waqar, Nazia Ikram, Muhammad Zia Yaqub.
Xanthomatus familial hypercholesterolemia.
Pak J Cardiol Jan ;17(2-3):70-3.

A 22-year male B presented with the complaints of typical chest pain, multiple xanthomas on the body, tendons and xanthelsema. On history and further investigations it was found that three of the patient`s siblings had similar xanthomas on their body and all of the patients have elevated serum lipids. Their father died of myocardial infarction 12 years ago while the mother doesn`t have the disease. A, the eldest noticed development of xanthomas on her body at the age of 8 years while the brothers B, C and D, subsequently develop at the ages of 10, 6 and 4 years respectively. These patients had been operated for these xanthomas several times but these outgrowths tend to recur at different sites. B has now developed moderate aortic stenosis, mild aortic regurgitation and inferior wall hypokinesia with EF of 69%, C also had lipophoresis done 1 year back with pre and post cholesterol levels of 341 mg/dl and 149 mg/dl.

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