Year: 2025
Type: article
Study design: Case Report
Abstract: Lipodystrophies are rare disorders characterized by loss of body fat resulting in leptin deficiency. Patients are predisposed to metabolic complications such as severe insulin resistance, hypertriglyceridemia, and hepatic steatosis. Werner syndrome (WS) is among the progeroid syndromes in the classification of lipodystrophy. In this case report, we describe two siblings. In the first case, lipodystrophy was suspected when the patient presented with acute pancreatitis and hypertriglyceridemia, and a diagnosis of WS was confirmed. Subsequently, genetic screening of the patient's sister, who had early-onset diabetes, also revealed WS.
Source: JCEM Case Reports
Institutions: Muğla University, Dokuz Eylül University, Ege University
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $930
OpenAlex ID: W4409341777
