Self-efficacy and self-management strategies in acute intermittent porphyria

Autor:	Aasne K. Aarsand, Marte H. Hammersland, Janice Andersen, Sverre Sandberg
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	Adult Male Pediatrics medicine.medical_specialty Heterozygote Adolescent Genetic counseling DNA Mutational Analysis Disease Asymptomatic General self-efficacy scale 03 medical and health sciences Young Adult 0302 clinical medicine Predictive genetic testing medicine Humans Acute intermittent porphyria 030212 general & internal medicine Genetic Testing Genetic testing Paresis Aged Retrospective Studies Aged 80 and over medicine.diagnostic_test business.industry 030503 health policy & services Health Policy Self-Management lcsh:Public aspects of medicine lcsh:RA1-1270 Satisfaction with genetic counseling scale Middle Aged medicine.disease Penetrance Cross-Sectional Studies Respiratory failure Porphyria Acute Intermittent Practice Guidelines as Topic Female Self-management strategies medicine.symptom 0305 other medical science business Self-efficacy Research Article
Zdroj:	BMC Health Services Research, Vol 19, Iss 1, Pp 1-9 (2019) BMC Health Services Research
ISSN:	1472-6963
DOI:	10.1186/s12913-019-4285-9
Popis:	Background Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene. Although most patients experience little or no symptoms, serious attacks may include excruciating pain, severe electrolyte disturbances, paresis, and respiratory failure. Several drugs and lifestyle factors are potential attack inducers and avoiding known triggers is important to avoid symptomatic disease in both patients and genetically predisposed carriers. Our aim in this study was to describe self-efficacy and self-management strategies in self-reported symptomatic and asymptomatic HMBS mutation carriers, and to elucidate motives for predictive genetic testing. Methods This is a cross-sectional retrospective survey with postal questionnaires. We received responses from 140 HMBS carriers for the general self-efficacy scale (GSES), study-specific questions about symptoms, self-management strategies and motives for genetic testing and satisfaction with the genetic counseling scale (SCS). Results The results indicated high levels of self-efficacy in these Norwegian HMBS mutation carriers. Both self-reported symptomatic and asymptomatic cases recorded changes in behavior after diagnosis, such as avoiding possible triggering drugs and aspiring recommended eating habits. They were in general satisfied with the genetic counseling they had received. The possibility to prevent disease and learn about the risk of their children was their most important motives to undergo genetic testing. Conclusions This study indicates that continuing to provide information, counseling and education is beneficial in AIP, and that HMBS mutation carriers, both those self-assessed as asymptomatic and as symptomatic, are using their knowledge to avoid triggering factors. Electronic supplementary material The online version of this article (10.1186/s12913-019-4285-9) contains supplementary material, which is available to authorized users.
Databáze:	OpenAIRE
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