Which physical findings are characteristic of sitosterolemia (phytosterolemia)?

Updated: May 24, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

Xanthomas may appear at any age, even in childhood. These may be present as subcutaneous xanthomas on the buttocks in children or in usual locations (eg, Achilles tendon, extensor tendons of the hand) in children and adults.

Xanthelasma and corneal arcus are less common.

Signs of premature coronary vascular disease, such as congestive heart failure, may be present if a patient has had previous myocardial infarction.

Decreased range of motion with possible redness, swelling, and warmth of joints due to arthritis may be present.

Splenomegaly may be present.


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