Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey

Orphanet Journal of Rare Diseases

Rosagemma Ciliberti¹  Pierluigi Santi²  Ilaria Baldelli²  Piero Fregatti²  Lorenzo Mellini³  Marco Crimi⁴  Fabio Gallo⁵ 

[1] Department of Health Science (DISSAL), University of Genoa;Department of Surgical Sciences and Integrated Diagnostics (DISC), University of Genoa;Executive Committee Italian Association of Poland Syndrome (AISP);Kaleidos SCS-Onlus, Scientific Office;Policlinico San Martino Hospital IRCCS for Oncology;

关键词: Poland syndrome;    Breast asymmetry;    Chest malformation;    Hand malformation;    Congenital malformation;    Rare disease;   

DOI  :  10.1186/s13023-019-1253-8

来源: DOAJ

【 摘 要 】

Abstract Background Poland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Early diagnosis and timely therapeutic approaches play an important role in improving the quality of life of patients and kindred. This study aims to explore healthcare experiences of the diagnosis of patients affected by PS and to investigate the factors associated with diagnostic delay in Italy. Results Seventy-two patients affected by PS were asked to fill in a self- administered questionnaire on: a) diagnostic path; b) perceived quality of care received after diagnosis; c) knowledge of the rights and the socio-economic hardships related to their disease; d) evaluation of the integration of various professional skills involved in the diagnostic and therapeutic approach; e) perception of the social support provided by the Italian Association of Poland Syndrome (AISP). The average age at diagnosis was around 14 years; diagnosis was made at birth in only 31.58% of cases. Although typical symptomatology had appeared on average at an early age (4 months), only 23 patients (40.35%) received an early diagnosis (within the first year of life). Just over half of the patients (n = 30) were diagnosed in their region of origin, while 27 were diagnosed elsewhere. Furthermore, 12.28% were self-diagnoses. Among the patients who were diagnosed outside their region, 15 (88.24%) stated they had foregone some visits or treatments owing to costs and/or organizational issues. Conclusions An analysis of the patients’ experiences highlights several gaps and a lack of homogeneity in the diagnostic and therapeutic follow-up of PS patients in Italy. A specific national diagnostic and therapeutic path is essential to guarantee patients complete and appropriate health services, compliant with the ethical principles of non-discrimination, justice and empathy. Implementation of an effective information and research network and empowerment of patients’ associations are necessary conditions to encourage clinical collaboration and improve the quality of life of people living with rare diseases.

【 授权许可】

Unknown