Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area.

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by the loss of body fat. The global prevalence of CGL is one in 10 million, and there are four subtypes. The case is presented of a 18-year-old woman from rural area of the north coast of Peru (Piura) with limited access to health services. She was diagnosed with phenotypic CGL at age 7 months. At age 12 years, she was diagnosed with diabetes and had altered liver function tests. She underwent a liver biopsy, which revealed advanced portal fibrosis. The patient stopped attending evaluations for 3 years; subsequently, she was referred to Dos De Mayo Hospital in Lima. Physical examination revealed typical triangular facies, acanthosis nigricans, and hirsutism; little subcutaneous tissue; proximal muscle weakness with stiffness in joints; and clitorimegaly. As of this writing, the patient is waiting to initiate outpatient therapy with a leptin analog. She has physical characteristics of CGL type 2 and a natural progression of the disease that presents cirrhosis caused by nonalcoholic fatty liver disease. She lives in a region of high CGL type 2 prevalence, which, without treatment, has a poor prognosis. Liver failure is the main cause of death. There are barriers for this group of patients to access the best treatment and one purpose of this report is to attract the attention of health institutions to help us treat these patients.