Difficulties in diagnosis and management of mastocytosis in clinical practice and role of patients' associations

• Main Authors: Polliana Mihaela LERU, Dumitru MATEI
• Format: Article
• Language: English
• Published: Amaltea Medical Publishing House 2017-03-01
• Series: Romanian Journal of Medical Practice
• Subjects: mastocytosis; patients' associations; rare diseases
• Online Access: https://rjmp.com.ro/articles/2017.1/RJMP_2017_1_Art-09.pdf
• ISSN: 1842-8258; 2069-6108

Mastocytosis is a heterogeneous group of disorders characterized by abnormal expansion and accumulation of mast cells in one or more organs. It is a rare disease, with uncertain prevalence in many countries. The diagnosis and management of rare diseases, including mastocytosis, rise many problems in clinical practice, mainly due to limited medical information and low attention from health care givers. Misdiagnosis of mastocytosis is frequent, mainly due to low prevalence, versatile clinical picture, addressability to many specialists and confusion with various types of allergies. Beside delayed diagnosis, patients with mastocytosis face expensive investigations, unavailable treatment options, risk of complications and impaired quality of life. The aim of this paper is to evaluate the actual situation of mastocytosis patients in Romania, difficulties in diagnosis and management and main activities of patients' associations. Patients' associations have an important role in improving health assistance of rare diseases, such as mastocytosis, mainly in countries with less developed health system and when interdisciplinary approach is needed. We also aimed to point out patients' needs and expectations from medical staff and health authorities and to make a step forward to improved medical assistance of this rare disease, according to actual standards in European countries.