Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

J Clin Res Pediatr Endocrinol. 2020 Mar 19;12(1):17-28. doi: 10.4274/jcrpe.galenos.2019.2019.0124. Epub 2019 Aug 22.

PMID: 31434462

Samim Özen, Barış Akıncı, Elif A. Oral

Summary: This study highlights the importance of early diagnosis in patients with lipodystrophy, although there is no definitive treatment for this disorder. It is emphasized that effective strategies should be developed to overcome the difficulties in the management of lipodystrophy in children and adolescents.

Abstract

Background: Lipodystrophy refers to a heterogeneous group of disorders characterized by lack of body fat in characteristic patterns, that can be genetic or acquired. Lipodystrophy is associated with insulin resistance that can develop in childhood and adolescence, and generally causes severe metabolic complications. These patients usually have diabetes mellitus, hypertriglyceridemia, and hepatic steatosis, and most of the girls have menstrual irregularities. Serious complications occur at a relatively young age, including acute pancreatitis, renal failure, cirrhosis, and complex cardiovascular disorders, many of which are associated with substantial morbidity. Lipodystrophy is treated with medical nutritional therapy, exercise, and the use of anti-hyperglycemic and lipid-lowering agents. New treatment modalities, such as metreleptin replacement therapy, hold great promise in the treatment of metabolic abnormalities associated with lipodystrophy.

Aim: This study focuses on presentation of various forms of lipodystrophy during childhood and adolescence and reviews the general clinical approach and challenges for the management of these patients.

Conclusion: The following are some of the current challenges in the management of lipodystrophy in children and adolescents:

(1) establishing specialized centers with experience in providing care for lipodystrophy presenting in childhood and adolescence,

(2) optimizing algorithms that can provide some guidance for the use of standard and novel therapies to ensure adequate metabolic control and to prevent complications,

(3) educating patients and their parents about lipodystrophy management,

(4) improving patient adherence to chronic therapies,

(5) reducing barriers to access to novel treatments,

(6) improving the quality of life of these patients and their families.