LCAT deficiency

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Classification according to ICD-10
E78.6 Lipoprotein Deficiency - Lecithin Cholesterol Acyltransferase Deficiency
ICD-10 online (WHO version 2019)

The LCAT deficiency , acronym for L ecithin- C holesterin- A cyl t ransferase is a very rare congenital metabolic disorder of the lipoproteins with the main features of a corneal clouding and a highly reduced concentration of HDL cholesterol, possibly additional renal failure and hemolytic anemia.

Synonym : Norum syndrome

The name refers to the first author of the first description from 1967 by the Norwegian doctor Kaare R. Norum .

distribution

The frequency is given as less than 1 in 1,000,000, so far about 125 people have been reported. Inheritance is autosomal - recessive .

classification

Clinically, two forms can be distinguished:

  • the familial form , synonym: complete LCAT deficiency , with corneal opacity, anemia and renal insufficiency
  • the fish-eye syndrome , synonym: partial LCAT deficiency , with corneal opacities and sometimes arteriosclerosis.

root cause

Both forms are mutations in the LCAT - gene in chromosome 16 at locus Q22.1 based encoding the LCAT enzyme involved in the conversion of cholesterol esters in the lipoproteins.

Clinical manifestations

Clinical criteria are:

In fish-eye syndrome, the corneal opacities are much more pronounced and lead to impairment of visual acuity at an early stage .

Differential diagnosis

The following are to be distinguished:

and Schnyder corneal dystrophy .

therapy

Treatment can currently only be symptomatic.

history

The first description of the fish-eye syndrome was in 1979 by the Swedish doctor Lars A. Carlson .

literature

  • BU Bender, T. Quaschning, HP Neumann, D. Schmidt, A. Kraemer-Guth: A novel frameshift mutation of the lecithin: cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. In: Clinical chemistry and laboratory medicine. Vol. 45, No. 4, 2007, pp. 483-486, doi: 10.1515 / CCLM.2007.102 , PMID 17439325 .
  • A. Viestenz, B. Seitz: Ocular manifestation in LCAT deficiency - a clinical-histopathological correlation. In: Clinical monthly sheets for ophthalmology. Vol. 220, No. 7, July 2003, pp. 499-502, doi: 10.1055 / s-2003-40943 , PMID 12886512 .
  • EG Weidle, W. Lisch: Corneal opacity as a key symptom of hereditary lecithin-cholesterol-acyltransferase (LCAT) deficiency - case report and literature review. In: Clinical monthly sheets for ophthalmology. Vol. 190, No. 3, March 1987, pp. 182-187, doi: 10.1055 / s-2008-1050353 , PMID 3586537 .

Individual evidence

  1. ↑ a b c LCAT deficiency. In: Orphanet (Rare Disease Database).
  2. ↑ KR Norum, E. Gjone: Familial serum cholesterol esterification failure. A new inborn error of metabolism. In: Biochimica et Biophysica Acta . Volume 144, Number 3, December 1967, pp. 698-700, PMID 6078131 .
  3. ↑ LCAT deficiency, familial. In: Orphanet (Rare Disease Database).
  4. ↑ Norum disease.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Fish-eye syndrome. In: Orphanet (Rare Disease Database).
  6. ↑ Fish-eye disease.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ a b [1]
  8. ↑ LA Carlson, B. Philipson: Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemia. In: Lancet (London, England). Volume 2, Number 8149, November 1979, pp. 922-924, PMID 91022 .

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