Delayed recognition of Wolfram syndrome frequently misdiagnosed as type 1 diabetes with early chronic complications

• Published in: Experimental and clinical endocrinology & diabetes Vol. 122; no. 1; p. 35
• Main Authors: Zmyslowska, A, Borowiec, M, Fichna, P, Iwaniszewska, B, Majkowska, L, Pietrzak, I, Szalecki, M, Szypowska, A, Mlynarski, W
• Format: Journal Article
• Language: English
• Published: Germany 01.01.2014
• Subjects: Adolescent; Age of Onset; Child; Child, Preschool; Chronic Disease; Cohort Studies; Delayed Diagnosis; Diabetes Complications - diagnosis; Diabetes Complications - epidemiology; Diabetes Mellitus, Type 1 - complications; Diabetes Mellitus, Type 1 - diagnosis; Diabetes Mellitus, Type 1 - epidemiology; Diagnostic Errors; Female; Genetic Testing; Humans; Male; Optic Atrophy - diagnosis; Optic Atrophy - genetics; Poland - epidemiology; Wolfram Syndrome - diagnosis; Wolfram Syndrome - epidemiology; Wolfram Syndrome - genetics; Poland
• ISSN: 1439-3646
• DOI: 10.1055/s-0033-1357160

Improvements in diagnostic methods and greater genetic awareness have brought remarkable progress in the recognition of monogenic forms of diabetes, including Wolfram syndrome (WFS). WFS is diagnosed based on clinical criteria of coexistence of diabetes mellitus and optic atrophy, and confirmed by molecular analysis; however, the condition is still sometimes misdiagnosed. To begin to understand the reasons for misdiagnosis, we conducted a retrospective analysis of WFS patients who were originally misdiagnosed. The medical histories of 13 pediatric patients with clinical misdiagnosis of type 1 diabetes and early chronic complications made in the years 1995-2010 and who were subsequently correctly diagnosed with WFS based on genetic testing in 2008-2011 were analyzed. The average age of the patients at diabetes onset was 5 (4.4-6.3) years, and the mean HbA1c level at diagnosis was 9.1±2.3%. Initially, all of these patients were treated as having type 1 diabetes with progressive visual impairment despite good metabolic control (mean HbA1c 7.5±1.3%). Diagnosis of optic atrophy was made at an average age of 9 (5.9-11.5) years, which corresponds to 4 years after diabetes recognition (p=0.002). At the time of genetic analysis, the average age of the patients was 16 (12-18.7) years, which corresponds to 7 years after recognition of coexistence of diabetes mellitus and optic atrophy (p=0.007). Delays of at least 7 years occurred before recognition of WFS among a cohort of pediatric patients with diabetes. All patients with WFS were primarily misdiagnosed as having type 1 diabetes.