Abstract
Tendon xanthomas associated with pain or tenderness frequently occur in case of hyperlipidemia, including familial hypercholesterolemia (FH). Polyarthritis or polyarthropathy, however, rarely occurs in FH, and the pathogenesis remains unclear. This report describes a 43-year-old female with heterozygous FH, type IIa, associated with migratory polyarthralgia. At age 18, she had complained of pain in her knee joints and both Achilles tendons, and bilateral swellings of the Achilles tendons were noted at that time. She was diagnosed as having heterozygous FH. She had suffered from polyarthralgia intermittently due to an imbalance in her serum cholesterol level. At age 43 tendon xanthomas of the knee and elbow joints was observed. Subcutaueous xanthomas and marked corneal rings were also noted. Serum levels of total cholesterol, triglycerides and HDL-cholesterol were 433mg/dl, 90mg/dl and 30mg/dl, respectively. Physical findings, magnetic resonance imaging (MRI) findings, and the therapeutic effect of using a local injection of prednisolone suggest an enthetic lesion, which is a structural part of tendon or ligament binding to the bone. We speculate that inflammatory enthesopathy is a possible pathogenesis of joint pain in FH.
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