TY - JOUR AU - Jendoubi, Fatma AU - Severino-Freire, Maella AU - Negretto, Mathilde AU - Arbus, Christophe AU - Paul, Carle AU - Bulai Livideanu, Cristina PY - 2021 DA - 2021/03/05 TI - Neuropsychiatric, cognitive and sexual impairment in mastocytosis patients JO - Orphanet Journal of Rare Diseases SP - 118 VL - 16 IS - 1 AB - Mastocytosis is a rare disease characterised by the accumulation and/or proliferation of abnormal mast cells (MCs) in one or several organs. It may present with a number of different symptoms that involve various organ systems. The current study aims to assess the prevalence of MC mediator-related symptoms in a cohort of mastocytosis patients with a specific focus on neurological, psychiatric, cognitive and sexual symptoms. We also assessed the impact of the disease on patients’ professional lives. Patients were administered a validated multidimensional questionnaire to collect information on patients’ perception of the severity of their symptoms. From the questionnaires we extracted the neurological, cognitive, psychiatric and sexual symptoms and the impact of the disease on patients’ professional lives as well as their grading. The affective status was assessed using the 17-item version of the Hamilton Depression Rating Scale. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-021-01747-y DO - 10.1186/s13023-021-01747-y ID - Jendoubi2021 ER -