A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome

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.

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Publication Details

Journal
JCEM Case Reports
Published
2025-03-27
DOI
https://doi.org/10.1210/jcemcr/luaf061
Primary Topic
Nuclear Structure and Function
Type
article
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article

A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome

Kenan Şakar, Gülhan Akbaba, Barış Akıncı, İlgın Yıldırım Şimşir et al.
JCEM Case Reports
Nuclear Structure and Function
article

A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome

Kenan Şakar, Gülhan Akbaba, Barış Akıncı, İlgın Yıldırım Şimşir, Tahir Atık, Nese Cinar
article en

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.

JCEM Case ReportsVol. 3(5)
Dokuz Eylül University (TR), Ege University (TR), Muğla University (TR)
Good health and well-being
Openalex Percentile: Top 94%
Nuclear Structure and Function
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