Neuropsychiatric, Cognitive and Sexual Impairment in Mastocytosis Patients

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2021 Mar 6

PMID 33673856

Citations 2

Authors

Fatma Jendoubi

Maella Severino-Freire

Mathilde Negretto

Christophe Arbus

Carle Paul

Cristina Bulai Livideanu

Affiliations

Soon will be listed here.

Abstract

Background: 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.

Results: We 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.

Conclusion: This current study provides some insights regarding symptoms related to mastocytosis and their impact on patients' professional lives.

Citing Articles

Cognitive, neuropsychiatric and neurological alterations in mastocytosis: A systematic review.

Sagues-Sese E, Garcia-Casares N, Alvarez-Twose I Clin Transl Allergy. 2023; 13(12):e12319.

PMID: 38146805 PMC: 10718195. DOI: 10.1002/clt2.12319.

Neuropsychiatric Manifestations of Mast Cell Activation Syndrome and Response to Mast-Cell-Directed Treatment: A Case Series.

Weinstock L, Nelson R, Blitshteyn S J Pers Med. 2023; 13(11).

PMID: 38003876 PMC: 10672129. DOI: 10.3390/jpm13111562.

References

Kempuraj D, Selvakumar G, Thangavel R, Ahmed M, Zaheer S, Raikwar S . Mast Cell Activation in Brain Injury, Stress, and Post-traumatic Stress Disorder and Alzheimer's Disease Pathogenesis. Front Neurosci. 2018; 11:703. PMC: 5733004. DOI: 10.3389/fnins.2017.00703. View

Hermine O, Lortholary O, Leventhal P, Catteau A, Soppelsa F, Baude C . Case-control cohort study of patients' perceptions of disability in mastocytosis. PLoS One. 2008; 3(5):e2266. PMC: 2386235. DOI: 10.1371/journal.pone.0002266. View

Fradet M, Negretto M, Tournier E, Laurent C, Apoil P, Evrard S . Frequency of isolated cutaneous involvement in adult mastocytosis: a cohort study. J Eur Acad Dermatol Venereol. 2019; 33(9):1713-1718. DOI: 10.1111/jdv.15638. View

Valent P, Akin C, Arock M, Brockow K, Butterfield J, Carter M . Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2011; 157(3):215-25. PMC: 3224511. DOI: 10.1159/000328760. View

Rothwell N, Luheshi G . Interleukin 1 in the brain: biology, pathology and therapeutic target. Trends Neurosci. 2001; 23(12):618-25. DOI: 10.1016/s0166-2236(00)01661-1. View

Sultan S, Hartemann-Heurtier A, Grimaldi A . [Understanding patients to promote self-regulation in Type 2 diabetes: how to live with an illness beginning before its onset?]. Diabetes Metab. 2003; 29(2 Pt 3):S21-30. View

Bulai Livideanu C, Apoil P, Lepage B, Eischen M, Laurent C, Laharrague P . Bone marrow tryptase as a possible diagnostic criterion for adult systemic mastocytosis. Clin Exp Allergy. 2016; 46(1):133-41. DOI: 10.1111/cea.12627. View

Brintzenhofe-Szoc K, Levin T, Li Y, Kissane D, Zabora J . Mixed anxiety/depression symptoms in a large cancer cohort: prevalence by cancer type. Psychosomatics. 2009; 50(4):383-91. DOI: 10.1176/appi.psy.50.4.383. View

Silva Moura D, Sultan S, Georgin-Lavialle S, Barete S, Lortholary O, Gaillard R . Evidence for cognitive impairment in mastocytosis: prevalence, features and correlations to depression. PLoS One. 2012; 7(6):e39468. PMC: 3379977. DOI: 10.1371/journal.pone.0039468. View

10.

Sarchielli P, Alberti A, Baldi A, Coppola F, Rossi C, Pierguidi L . Proinflammatory cytokines, adhesion molecules, and lymphocyte integrin expression in the internal jugular blood of migraine patients without aura assessed ictally. Headache. 2006; 46(2):200-7. DOI: 10.1111/j.1526-4610.2006.00337.x. View

11.

Purcell W, Westgate C, Atterwill C . Rat brain mast cells: an in vitro paradigm for assessing the toxic effects of neurotropic therapeutics. Neurotoxicology. 1996; 17(3-4):845-50. View

12.

Smith J, Butterfield J, Cutrer F . Primary headache syndromes in systemic mastocytosis. Cephalalgia. 2011; 31(15):1522-31. DOI: 10.1177/0333102411421683. View

13.

Silva Moura D, Sultan S, Georgin-Lavialle S, Pillet N, Montestruc F, Gineste P . Depression in patients with mastocytosis: prevalence, features and effects of masitinib therapy. PLoS One. 2011; 6(10):e26375. PMC: 3198767. DOI: 10.1371/journal.pone.0026375. View

14.

Dong H, Zhang W, Zeng X, Hu G, Zhang H, He S . Histamine induces upregulated expression of histamine receptors and increases release of inflammatory mediators from microglia. Mol Neurobiol. 2014; 49(3):1487-500. DOI: 10.1007/s12035-014-8697-6. View

15.

Valent P, Akin C, Metcalfe D . Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood. 2016; 129(11):1420-1427. PMC: 5356454. DOI: 10.1182/blood-2016-09-731893. View

16.

Smith J, Butterfield J, Pardanani A, DeLuca G, Cutrer F . Neurologic symptoms and diagnosis in adults with mast cell disease. Clin Neurol Neurosurg. 2011; 113(7):570-4. DOI: 10.1016/j.clineuro.2011.05.002. View

17.

Sheftell F, Rapoport A, Weeks R, Walker B, Gammerman I, Baskin S . Montelukast in the prophylaxis of migraine: a potential role for leukotriene modifiers. Headache. 2000; 40(2):158-63. DOI: 10.1046/j.1526-4610.2000.00022.x. View

18.

Proelss J, Wenzel J, Ko Y, Bieber T, Bauer R . Tryptase detection in bone-marrow blood: a new diagnostic tool in systemic mastocytosis. J Am Acad Dermatol. 2007; 56(3):453-7. DOI: 10.1016/j.jaad.2006.09.020. View

19.

Zimmerman M, Martinez J, Young D, Chelminski I, Dalrymple K . Severity classification on the Hamilton Depression Rating Scale. J Affect Disord. 2013; 150(2):384-8. DOI: 10.1016/j.jad.2013.04.028. View

20.

Cohen S, Skovbo S, Vestergaard H, Kristensen T, Moller M, Bindslev-Jensen C . Epidemiology of systemic mastocytosis in Denmark. Br J Haematol. 2014; 166(4):521-8. DOI: 10.1111/bjh.12916. View