SONOGRAPHY OF ACHILLES-TENDON XANTHOMAS IN PATIENTS WITH HETEROZYGOUSFAMILIAL HYPERCHOLESTEROLEMIA

OBJECTIVE. Xanthomas are an essential diagnostic criteria of familial hypercholesterolemia. The objective of this study was to determine if xanthomas of the Achilles tendon can be revealed on sonography when th e condition is clinically unsuspected in patients with heterozygous fa milial hypercholesterolemia. SUBJECTS AND METHODS. Ninety-four patient s (52 females, 42 males; 12-73 years old; mean age, 44 years) with a p roven diagnosis of heterozygous familial hypercholesterolemia were stu died. Achilles tendons of these patients were clinically evaluated and examined with sonography, Size and echo structure of the Achilles ten dons were categorized as normal, having hypoechoic nodules (grade 1), or diffusely hypoechoic with a heterogeneous echo structure (grade 2), RESULTS. Sixty-two patients had positive physical examination finding s for Achilles tendon xanthomas, Fifty-seven (92%) of these patients h ad abnormally large tendons (greater than or equal to 7.1 mm) on sonog raphy, Grade 1 or grade 2 echo structure compatible with xanthomatosis was found in at least one Achilles tendon of all 62 patients. Of the 94 patients in the study group, 32 patients had negative or indetermin ate physical examination findings for Achilles tendon xanthomas, Sonog raphy showed that two (6%) of these patients had an enlarged (greater than or equal to 7.1 mm) Achilles tendon. Grade 1 or grade 2 echo stru cture compatible with xanthomatosis was found in 26 (81%) of these 32 patients. CONCLUSION. Sonography is significantly more sensitive than physical examination for the detection of Achilles tendon xanthomas in patients with heterozygous familial hypercholesterolemia and normal-s ized Achilles tendons. Our study suggests that sonography may play an important role in the early diagnosis of heterozygous familial hyperch olesterolemia.