ArticleOrphanet journal of rare diseases2021
Neuropsychiatric, cognitive and sexual impairment in mastocytosis patients.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Diagnosis, management and the burden of symptoms of mastocytosis from the physician's perspective: A nationwide study.British journal of haematology · 2025Article
- Prevalence and treatment response of neuropsychiatric disorders in mast cell activation syndrome.Brain, behavior, & immunity - health · 2025Article
- Systemic mastocytosis: current status and challenges in 2024.Blood advances · 2025Review
- Cognitive, neuropsychiatric and neurological alterations in mastocytosis: A systematic review.Clinical and translational allergy · 2023Review
- Neuropsychiatric Manifestations of Mast Cell Activation Syndrome and Response to Mast-Cell-Directed Treatment: A Case Series.Journal of personalized medicine · 2023Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMastocytosis 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.
resultsWe included 139 patients. Mastocytosis was classified as systemic in 113 patients and cutaneous in 26 patients. The prevalence of MC mediator-related systemic symptoms was as follows: cutaneous (71%), gastro-intestinal (48%), cardio-vascular (36%), musculoskeletal (26.6%), fatigue (24%), urinary (14.4%) and respiratory (10%). Headaches and vertigo were noted in respectively 55% and 32% of patients. Irritability, episodes of memory loss and difficulty concentrating were reported in 54%, 52% and 40% of cases, respectively. Sexual impairment was noted in 24% of patients. No associations were found between neuropsychiatric/cognitive impairment and age, gender, diagnostic delay, disease form, the presence of cutaneous lesions, the level of serum and bone marrow tryptase and the presence of KIT mutation in bone marrow and/or skin. Depression was noted in 49% of patients. One in four patients reported a negative impact of the disease on their professional lives.
conclusionThis current study provides some insights regarding symptoms related to mastocytosis and their impact on patients' professional lives.
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