A Case of Familial Lecithin-cholesterol Acyltransferase (LCAT) Deficiency

Jung Hwa Na; Hyun Seung Kim

doi:10.3341/jkos.2008.49.5.831

Journal List > J Korean Ophthalmol Soc > v.49(5) > 1008274

Go to TopGo to Top Go to BottomGo to Bottom

TOOLS

Na and Kim: A Case of Familial Lecithin-cholesterol Acyltransferase (LCAT) Deficiency

Original Article

J Korean Ophthalmol Soc 2008;49(5):831-834.

Published online: 7 September 2008

DOI: https://doi.org/10.3341/jkos.2008.49.5.831

A Case of Familial Lecithin-cholesterol Acyltransferase (LCAT) Deficiency

Jung Hwa Na, M.D., Hyun Seung Kim, M.D., Ph.D.

Department of Ophthalmology and Visual Science, The Catholic University of Korea, Seoul, Korea

Address reprint requests to Hyun Seung Kim, M.D., Ph.D. Department of Ophthalmology and Visual Science, The Catholic University of Korea St. Mary's Hospital #62 Yeouido-dong, Yeongdeungpo-gu, Seoul 150-713, Korea Tel: 82-2-3779-1243, Fax: 82-2-761-6869, E-mail: sara514@catholic.ac.kr

Received 31 May 2007 Accepted 4 December 2007

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

To report a case of a familial lecithin cholesterol acyltransferase (LCAT) deficiency patient with bilateral corneal opacities.

Case summary

A 26-year-old man with bilateral corneal opacities visited our hospital. We took slit lamp examination, corneal thickness measurement, corneal endothelial cell counts and fundus examination. Blood and urine tests were included. Kidney biopsy was done. The tissues were observed by a light microscopy and an electron microscopy. Hemolytic anemia, proteinuria, hematuria, hypertriglyceridemia, decreased HDL cholesterol level, and lecithin cholesterol acyltransferase (LCAT) deficiency were found. At kidney biopsy, electron-lucent vacuoles and lamellar inclusion body were found.

Conclusions

Bilateral corneal opacities can be an imporant clinical sign of systemic disease which is caused by abnormal lipid metabolism like the familial lecithin cholesterol acyltransferase (LCAT) deficiency.

Keywords: Corneal opacity, Familial LCAT deficiency, HDL, LCAT, Lipid metabolism

References

1. Gjone E, Norum KR. Familial serum cholesterol ester deficiency: Clinical study of a patient with a new syndrome. Acta Med Scand. 1968; 183:107–12.

2. Borysiewicz LK, Soutar AK, Evans DJ, et al. Renal failure in familial lecithin:cholesterol acyltransferase deficiency. Q J Med. 1982; 51:411–26.

3. Vergani C, Catapano AL, Roma P, Giudici G. A new case of familial LCAT deficiency. Acta Med Scand. 1983; 214:173–6.

4. Muthusethupathi MA, Padmanabhan R, Date A, et al. Familial lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings: First case report from India. Nephron. 1999; 81:89–93.

5. Viestenz A, Schlötzer-Schrehardt U, Hofmann-Rummelt C, et al. Histopathology of Corneal Changes in Lecithin-Cholesterol Acyltransferase Deficiency. Cornea. 2002; 21:834–7.

6. Frohlich J, McLeod R, Hon K. Lecithin: Cholesterol Acyl Transferase (LCAT). Clin Biochem. 1982; 15:269–78.

7. Miller NE. Associations of high-density lipoprotein subclasses and apolipoproteins with ischemic heart disease and coronary atherosclerosis. Am Heart J. 1987; 113:589–97.

8. Silvia SF, Jeffrey MH, Gerd A, Bryan BJ. Lecithin Cholesterol Acyltransferase Deficiency and Fish Eye disease. Charles RS, Arthur LB, William SS, editors. The Metabolic & Molecular Bases of Inherited Disease. 8th ed.New York, London: McGraw-Hill;2001. 2:chap. 118.

9. Kenneth RK, Samuel EN, Christos H. Corneal Manifestations of Metabolic Diseases. Jay HK, Mark JM, Edward JH, editors. Cornea. 2nd ed.Elsevier: Mosby Year Book;2005. 1:chap. 64.

10. Kim JH, Myong YW. Histopathological Findings of Schnyder's Crystalline Corneal Dystrophy. J Korean Ophthalmol Soc. 1995; 36:1363–9.

11. Jung CS, Myong YW. A Case of Spontaneous Regression of Schnyder's Crystalline Corneal Dystrophy. J Korean Ophthalmol Soc. 2000; 41:1441–4.

Figure 1.

Photograph of the eyes of a 26-year-old man with bilateral corneal peripheral arcus.

Figure 2.

Slit-lamp examination show diffuse, cloudy, drop-shaped opacities involving the entire cornea (A) Right cornea (B) Left cornea.

Figure 3.

Histopathologic findings of kidney were consistent with Familial lecithin cholesterol acyltransferase deficiency. (A) H&E stains showed capillary wall thickening and mild mesangial widening. (B) Characteristic EM finding was various sized electron-lucent vacuoles with lamellar inclusion body (arrow).

TOOLS

Similar articles