[Sociosanitary impact on patients with rare diseases (ERES study)].
OBJECTIVE
The impact and burden of disease of the rare diseases (RD) is not known, also the type of disability that entail. The objective of the work is to analyze the socio-sanitary impact of the RD in Spain.


METHODS
This is a nationwide study. The dimensions used were mobility, personal care and daily activities of the EUROQoL-5D questionnaire to analyze the degree of dependency of the patient with RD.


RESULTS
714 surveys were analyzed. 51.2% were men; 21.1% were children and 78.9% adults. The more frequent laboral status were: retired/pensioner, active and student (35.3%; 29.2%, and 17.1% respectively). In the last quarterly 8.4% of the patients were in situation of transitory labor incapacity: 5.7% men and 11.9% women (p < 0.005). The patients referred disability (slight or moderate degree) in the areas: physical (87.7%), emotional (83.6%), social (75.6%) and sensorial (53%). They presented severe mixed disability (sensorial and physic) in 6.4%. Patient organisations, physicians and Internet (80.1%; 48.2% and 47.3% respectively) were the used sources of information. The patients were more satisfied with doctor's care than social worker's (47% and 2.4% respectively), considering doctors more accessible than social workers (32.4% and 13.1% respectively).


CONCLUSIONS
RD present a high percentage of disability and dependency, being both more severe in children. The patient organisations are the main source of information. Patients are more satisfied and consider the doctor more accessible than the social worker. This work might serve to make decisions in the socio-sanitary assistance for RD.
Avellaneda Fernández
Alfredo
A
Instituto de Investigación de Enfermedades Raras. Instituto de Salud Carlos III. Madrid. España. alfavel@gmail.com
Layola
Miquel
M
Izquierdo Martínez
Maravillas
M
Guilera
Magda
M
Badia Llach
Xavier
X
Ramón
José R
JR
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D017281:Cost of Illness; D018592:Cross-Over Studies; D003627:Data Interpretation, Statistical; D006233:Persons with Disabilities; D005260:Female; D006801:Humans; D008297:Male; D017533:Marital Status; D008875:Middle Aged; D010353:Patient Education as Topic; D017060:Patient Satisfaction; D011788:Quality of Life; D035583:Rare Diseases / Q000191:economics / Q000628:therapy; D012959:Socioeconomic Factors; D013030:Spain; D011795:Surveys and Questionnaires