Pseudoxanthoma elasticum laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]

Overview

Many laboratory tests that could be done to assess complications include:

• CBC - To screen for iron deficiency anemia.

• Fecal occult blood test to evaluate gastrointestinal bleeding.

• Urinalysis to screen for hematuria.

• Serum lipid levels - Pseudoxanthoma elasticum is associated with precocious atherosclerosis and elevated lipid levels should be treated aggressively.

• Serum calcium and phosphate levels - These are usually in the reference range in pseudoxanthoma elasticum, but hypercalcemia and hyperphosphatemia have been reported.

• Genetic testing - Mutations can be detected in 55-83% of patients with pseudoxanthoma elasticum.

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