We provide novel follow-up of a previously reported case. Previously, we described a 21-year-old man who presented in 2004 with a 10-month history of progressive, extensive and varied xanthomas including… Click to show full abstract
We provide novel follow-up of a previously reported case. Previously, we described a 21-year-old man who presented in 2004 with a 10-month history of progressive, extensive and varied xanthomas including diffuse planar xanthomas on the back (Fig. 1a); disfiguring pseudoeruptive xanthomas over the buttocks (Fig. 1b), shoulders and elbows; xanthoma striatum palmare (Fig. 1c); intertriginous xanthomas of the wrists and antecubital fossae; and xanthelasma. The xanthomas reflected the patient’s undiagnosed hypercholesterolaemia at presentation to the department, with total cholesterol 21.5 mmol/L (normal 2.0–5.5 mmol/L), low-density lipoprotein (LDL) cholesterol 19.6 mmol/L (2.0–3.4 mmol/L), high-density lipoprotein (HDL) cholesterol 1.1 mmol/L (1.1–2.4 mmol/L) and triglycerides 1.6 mmol/L (0.3–1.8 mmol/L). The patient was known to have primary sclerosing cholangitis (PSC) and ulcerative colitis. A 9-month course of atorvastatin 40mg per day only partially reduced the patient’s cholesterol, with total serum cholesterol dropping to 10.8 mmol/ L and LDL cholesterol to 9.19 mmol/L, without improvement of his xanthomas. The patient’s total cholesterol 3 years before presentation had been 5.9 mmol/L, and there was no family history of hyperlipidaemia or premature atherosclerosis. We hypothesized that only by completely correcting the patient’s lipid profile with liver transplantation would the xanthomas resolve. Subsequently, the patient had recurrent episodes of lifethreatening infective cholangitis associated with a
               
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