What is the morbidity and mortality associated with lecithin-cholesterol acyltransferase (LCAT) deficiency?

Answer

The major morbidity and mortality in familial LCAT deficiency is related to renal failure, with proteinuria manifesting in childhood and end-stage renal disease in adulthood, requiring renal replacement.^{[14, 15]}In fish eye disease, the major morbidity is visual impairment from corneal opacities.

Although some documented cases of premature atherosclerosis have been reported in individuals with these diseases, premature atherosclerosis remains a controversial topic.^{[16, 17, 18]}Ossoli et al reviewed several studies on the role of LCAT in atherosclerosis. They concluded that the available data is contradictory, but it clearly supported the concept that reduced plasma LCAT concentrations are not necessarily associated with increased atherosclerosis, despite the low HDL-C levels. They speculated that the preserved macrophage cholesterol removal associated with decreased LCAT function may be the reason why atherogenesis is not increased in these patients.^[4]

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Catherine Anastasopoulou, MD, PhD, FACE Associate Professor of Medicine, Sidney Kimmel Medical College of Thomas Jefferson University; Attending Endocrinologist, Department of Medicine, Albert Einstein Medical Center

Catherine Anastasopoulou, MD, PhD, FACE is a member of the following medical societies: American Association of Clinical Endocrinologists, American Society for Bone and Mineral Research, Endocrine Society, Philadelphia Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Linda Nguyen, MD Resident Physician, Department of Internal Medicine, Albert Einstein Medical Center

Linda Nguyen, MD is a member of the following medical societies: American College of Physicians, American Medical Association

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD Professor Emeritus of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, International Society for Clinical Densitometry, Southern Society for Clinical Investigation, American College of Medical Practice Executives, American Association for Physician Leadership, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical and Translational Research, Endocrine Society

Disclosure: Nothing to disclose.

Additional Contributors

Vasudevan A Raghavan, MBBS, MD MRCP(UK), Director, Cardiometabolic and Lipid (CAMEL) Clinic Services, Division of Endocrinology, Scott and White Hospital, Texas A&M Health Science Center College of Medicine

Vasudevan A Raghavan, MBBS, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Heart Association, Endocrine Society, Royal College of Physicians, National Lipid Association

Disclosure: Nothing to disclose.

Acknowledgements

Weerapan Khovidhunkit, MD, PhD Clinical Instructor, Department of Medicine, Division of Endocrinology and Metabolism, Chulalongkorn University, King Chulalongkorn Memorial Hospital, Thailand

Weerapan Khovidhunkit, MD, PhD, is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians, and The Endocrine Society

Disclosure: Nothing to disclose.

David M Klachko, MBBCh Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, Diabetes and Metabolism, University of Missouri

David M Klachko, MBBCh, is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Federation for Medical Research, Endocrine Society, Missouri State Medical Association, and Sigma Xi

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

Kent Wehmeier, MD Professor, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, St Louis University School of Medicine

Kent Wehmeier, MD, is a member of the following medical societies: American Society of Hypertension, Endocrine Society, and International Society for Clinical Densitometry

Disclosure: Nothing to disclose.

What is the morbidity and mortality associated with lecithin-cholesterol acyltransferase (LCAT) deficiency?

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