Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases. Curr Med Res Opin. 2018 Oct 08;:1-22 Authors: Vatier C, Vantyghem MC, Storey C, Jéru I, Christin-Maitre S, Fève B, Lascols O, Beltrand J, Carel JC, Vigouroux C, Bismuth E Abstract Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. insulin resistance, dyslipidemia, fatty liver and diabetes, and to provide appropriate genetic counselling. By means of several representative case studies, this article illustrates the diagnostic and management challenges of lipodystrophic syndromes. Berardinelli-Seip congenital lipodystrophy (BSCL) is typically diagnosed at birth, or soon thereafter, with generalized lipoatrophy and hepatomegaly secondary to hepatic steatosis. Physicians must also consider this diagnosis in adults with atypical non-autoimmune diabetes, hypertriglyceridemia and a lean and muscular phenotype. The BSCL1 subtype due to mutations in the AGPAT2 gene can have an unusual presentation, especially in neonates and infants. Particular attention should be paid to infants presenting failure to thrive who also have hepatomegaly and metabolic derangements. The BSCL2 subtype due to mutations in the BSCL gene tends to be more sever...
Source: Current Medical Research and Opinion - Category: Research Tags: Curr Med Res Opin Source Type: research