Which physical findings are characteristic of familial (complete) lecithin-cholesterol acyltransferase (LCAT) deficiency?

Updated: Oct 16, 2019
  • Author: Catherine Anastasopoulou, MD, PhD, FACE; Chief Editor: George T Griffing, MD  more...
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Clinical manifestations of familial LCAT deficiency include the following:

  • Corneal opacities

  • Signs of renal insufficiency, including hypertension

  • Signs of atherosclerosis in rare cases

  • Xanthelasma (may be seen in end-stage disease)

  • Hepatomegaly, splenomegaly, and lymphadenopathy - Generally, these are not present, despite the accumulation of lipid-laden foam cells.

The lesions of corneal manifestations consist of minute, grayish dots throughout the corneal stroma. The corneal opacities are more prominent in the periphery, develop in early childhood, and can be easily detected in the second decade of life. Papilledema with impaired ocular blood supply, leading to functional visual loss, has also been reported.

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