Which clinical history 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

The history of patients with sitosterolemia may include lumps or bumps on the skin, chest pain, or myocardial infarction related to early coronary vascular disease.

Angina may be present.

Hemolytic episodes may occur.

History of arthralgias or arthritis, especially of the knees and ankles, may be present.

Individuals with sitosterolemia, especially young children, may present with extremely high LDL and total cholesterol levels. This is one cause of pseudohomozygous familial hypercholesterolemia. [19]


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