A 30-year-old male patient came to Medicine OPD for swellings which looks like grapes, he said initially it was small cluster of swelling which later increased in size. He also complained of yellowish pigmentation of creases of palms. His fasting lipid profile was done, both cholesterol and triacylglycerols level was elevated. What is the diagnosis?
Correct Answer: Familial dysbetalipoproteinemia
Description: Ans. D. Familial dysbetalipoproteinemiaThe picture given is tuberoeruptive xanthoma and palmar xanthoma of Type III hyperlipoproteinemia.Clinical presentation of familial dysbetalipoproteinemia (Type III hyperlipoproteinemia)* Patients with FDBL usually present in adulthood with incidental hyperlipidemia.* Premature coronary disease or peripheral vascular disease.* Lipoprotein elevated is chylomicron and VLDL remnant.* Lipid elevated is cholesterol and triacylglycerol.Xanthomas in FDBL* Two distinctive types of xanthomas, tuberoeruptive and palmar, are seen in FDBL patients.* Tuberoeruptive xanthomas begin as clusters of small papules on the elbows, knees, or buttocks and can grow to the size of small grapes.* Palmar xanthomas (alternatively called xanthomata striata palmaris) are orange-yellow discolorations of the creases in the palms and wrists.* Both these xanthomas are virtually pathognomonic of FDBL.
Category:
Biochemistry
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