Endocrine Abstracts

The lipodystrophic syndromes are a heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue with the apparent accumulation of fat in other regions of the body. Their prevalence is low and ranges from 1:200000/500000 and they usually suffer metabolic abnormalities associated with the abnormal distributition of fat such as severe insulin resistance with acantosis and diabetes, progressive liver disease along with muscle hipertrophy, internal megaly, hirsutism, developmental delay or proteinuric renal dammage. The diagnosis of these síndromes is thus very complex and demmand multiple studies. We report a case of suspected lipodistrophy that we follow in our center in Alcorcon (Madrid) in the year 2022.

Case Report: 36 year old woman, born in Colombia, with unique background of diabetes mellitus cataloged as type 2, diagnosed at age 18 with no familiar history and treated with insulin along with severe acantosis nigricans and PCOS. Admitted under episode of hyperosmolar hyperglucemic síndrome secondary to poor acces to treatment, extended folliculitis and urinary infection due to K. pneumoniae. Good progress under emergent insulin and antibiotic treatment. We detect a particular phenotype consisting of prominent muscularity and low peripheric adipose tissue, severe acantosis nigricans plates, rough facial traits and hirsutism. There was therefore a suspition of a syndrome that could include all the manifestations depicted, specifically lipodystrophic síndrome. We deepened in the study of diabetes with a 12% HbA1c determination but normal C-Peptide, pancreatic autoinmunity and pancreatic imaging with abdominal tomography that on the other hand revealed several dermic thickening, low subcutaneous celular tissue, gastric and renal lypomas. Greater find of difuse adenopathies in all the abdominal cavity though normal proteinogram without monoclonal pike and normal urine inmunofixation. 24-h urianalsys demonstrated nefrotic proteinuria in context of diabetic nephropaty in a renal biopsy. Negative HIV study. Due to clinical stability the patient is discharged, with presumptive diagnosis of adquired generalized vs partial congenital lipodystrophy, only remaining the leptin determination.

Conclusion: The lipodystrophic syndromes though rare entities, must be suspected when several metabolic disorders combine with phenotipic features i.e lack of peripheral adipose tissue. The proper study of the etiology and the secondary alterations is crutial to assure the good treatmente and prognosis of these patients.