[Xanthomas of the Achilles tendon as the cardinal symptom of sitolsterolemia].
The circumference of both Achilles tendons had gradually increased over the years in a now 32-year-old man (diameter of the left tendon 4.5 cm, of the right one 3.5 cm). This finally led to exercise-related pain in both tendons. Biopsy revealed benign deposition of xanthomata. Serum total cholesterol concentration was 261 mg/dl. Determination of various sitosterol fragments in serum gave a beta-sitosterol level of 43 mg/dl (normal range 0.3-1.7 mg/dl), characteristic of sitosterolaemia, which is an autosomal recessive disease causing intestinal hyperabsorption of a range of plant steroids closely related to cholesterol. On a diet low in plant steroids and treatment with cholestyramine (up to 32 g daily) the beta-sitosterol concentration fell, but only to 35 mg/dl, because of poor patient compliance. The patient died suddenly from coronary artery stenosis seven months after the diagnosis of sitosterolaemia.
Grahlke
B K
BK
Marinesanitätszentrum, Flensburg.
D000125:Achilles Tendon / Q000473:pathology; D000328:Adult; D001706:Biopsy; D002908:Chronic Disease; D003131:Combined Modality Therapy; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000097:blood / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy; D012855:Sitosterols / Q000097:blood*; D014973:Xanthomatosis / Q000097:blood / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy
D012855:Sitosterols; C025473:gamma-sitosterol