Which clinical history findings are characteristic of 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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Answer

Answer

The clinical and biochemical features of familial LCAT deficiency and fish eye disease are highly variable. In patients with familial LCAT deficiency, symptoms are related to anemia, corneal opacities, renal insufficiency, and atherosclerosis (rarely). Corneal opacities may be severe enough to require corneal transplantation for the restoration of vision. Family history may reveal similar clinical features in siblings.

In patients with fish eye disease, symptoms typically include corneal opacities and atherosclerosis (about 30% of cases). Family history also may be positive for similar manifestations.


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