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Severe planar and tuberous xanthomatosis in a homo-FH boy.
M.K. 3 y.o. TC 599 mg/dL, TG 61 mg/dL, HDL-C 53 mg/dL, LDL-C 534 mg/dL
Achilles tendon xanthoma (−), His FH genes were double mutations; LDL-R C183S/PCSK9 E32K.
This patient is responsive to statin (pitavastatin) and ezetimibe.
The same double mutations in the FH-related genes (LDL-R and PCSK9) were observed in his younger brother (K.K.), but he has no cutaneous and tendon xanthomas.
