Kaur Anahat, Grover Punita, Albawaliz Anas, Chauhan Mahak, Barthel Brandon
Internal Medicine, University of Missouri-Kansas City School of Medicine, Kansas City, USA.
Hematology and Oncology, University of Cincinnati, Cincinnati, USA.
Cureus. 2019 May 24;11(5):e4743. doi: 10.7759/cureus.4743.
Werner syndrome (WS) is rare adult-onset progeria characterized by premature aging and early death. Patients develop normally until adolescence and usually present in early adulthood. Our case highlights a common presentation of this uncommon disease, wherein a 29-year-old non-obese male with no known risk factors developed uncontrolled diabetes, hypertriglyceridemia, and rapidly progressive atherosclerotic vascular disease. Careful observation with attention to the presence of characteristic physical features and subsequent genetic testing helped diagnose the patient with this uncommon progeroid syndrome. Our case adds to the literature about this rare disease especially in patients of middle-eastern descent and also highlights the importance of having a high index of suspicion for WS when the initial clinical presentation is atypical.
沃纳综合征(WS)是一种罕见的成人早老症,其特征为早衰和早亡。患者在青春期前发育正常,通常在成年早期发病。我们的病例突出了这种罕见疾病的常见表现,即一名29岁无已知危险因素的非肥胖男性患上了难以控制的糖尿病、高甘油三酯血症和快速进展的动脉粥样硬化性血管疾病。通过仔细观察并留意特征性体征的存在,以及随后的基因检测,帮助诊断该患者患有这种罕见的早老样综合征。我们的病例补充了关于这种罕见疾病的文献,特别是在中东血统患者中,并且还强调了当初始临床表现不典型时,对沃纳综合征保持高度怀疑指数的重要性。