• SimsirIlgin YildirimIYDivision of Endocrinology and Metabolism Disorders, Ege University Medical Faculty, 35100 Izmir, Turkey., Banu Sarer Yurekli, Irmak Polat, Fusun Saygili, and Baris Akinci.
• Division of Endocrinology and Metabolism Disorders, Ege University Medical Faculty, 35100 Izmir, Turkey.
• Natl Med J India. 2020 Sep 1; 33 (5): 278-280.

AbstractThe near total lack of subcutaneous fat in congenital generalized lipodystrophy (CGL) leads to the accumulation of fat in ectopic organs and severe insulin resistance, which are associated with serious metabolic abnormalities. Cosmetic aspects of the disease are likely to affect the quality of life (QoL) and physiological well-being in these individuals. Metreleptin, recombinant human leptin, replacement treatment has been shown to have benefits in treating the metabolic abnormalities of CGL. In a patient with CGL caused by a homozygous AGPAT2 pathogenic variant, we examined QoL and mood alterations (depression and anxiety) caused by this chronic disease. Metreleptin replacement treatment led to dramatic metabolic improvement in our patient. It was also was associated with improvements in QoL, depression and anxiety scores. We suggest that there is need for studies to document the benefit of metreleptin replacement treatment on QoL and physiological well-being in patients with CGL.

8 keywords...

hide…