| CASE REPORT |
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| Year : 2020 | Volume
: 9
| Issue : 8 | Page : 4451-4453 |
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Familial hypercholesterolemia: The skin speaks
Johns T Johnson, Jinson Paul, Kripa Elizabeth Cherian, Nitin Kapoor, HS Asha, Thomas Vizhalil Paul
Department of Endocrinology, Diabetes and Metabolism, Christian Medical College and Hospital, Vellore, Tamil Nadu, India
Correspondence Address:
Dr. Nitin Kapoor
Department of Endocrinology, Diabetes and Metabolism, Christian Medical College and Hospital, Vellore, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jfmpc.jfmpc_819_20
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Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipoprotein metabolism caused by defects in the low-density lipoprotein receptor (LDLR) gene. It is characterized by high low-density lipoprotein (LDL) cholesterol levels, premature cardiovascular disease (CVD), and tendon xanthomas. We present the case of a 26-year-old gentleman who presented with multiple nodular eruptions over the extensor aspects of upper and lower limbs and was diagnosed as FH on the basis of positive family history, typical lipid profile abnormalities, and biopsy of the nodule consistent with tendon xanthomas. The diagnosis and management of this case is deftly feasible at the primary care level.
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