Nutritional, muscular and metabolic characteristics in patients with neurofibromatosis type 1

Neurofibromatosis type 1 ( NF 1) has many reported clinical characteristics. We previously found that NF 1 patients (especially men) had lower body mass index ( BMI ) than controls, but the reason has not been elucidated. To address this issue, a retrospectively case–control study was conducted. Anthropometric and serum chemistry data that potentially relate to BMI were collected from medical records of NF 1 patients and their age‐ and sex‐matched controls. Enrollment of 98 adult patients who underwent skin surgery with NF 1 (41 men, 57 women) and 173 without NF 1 (74 men, 99 women) were investigated. The median BMI in male NF 1 patients was significantly lower than that of the controls. Triglycerides in male NF 1 patients were significantly lower than male controls, creatine kinase and lactate dehydrogenase in NF 1 patients were also lower than controls, aspartate aminotransferase and alanine aminotransferase showed a lower tendency in NF 1 patients, but were significantly lower in female patients. With correlation analysis, lactate dehydrogenase was moderately correlated with BMI in male NF 1 patients. Creatine kinase and creatinine showed no statistical correlation with BMI in either group. Triglycerides and alanine aminotransferase showed a positive correlation with BMI in both male and female controls, but not in NF 1 patients. In conclusion, only lactate dehydrogenase was moderately correlated with BMI in male NF 1 patients, although results of some nutritional and metabolic parameters suggest a specific metabolism in NF 1.