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

Abstract

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.

Keywords: Acute intermittent porphyria; General self-efficacy scale; Genetic counseling; Predictive genetic testing; Satisfaction with genetic counseling scale; Self-efficacy; Self-management strategies.

Fig. 1

Flow chart of respondent inclusion

Fig. 2

Frequency of symptomatic and asymptomatic HMBS mutation carriers who answered “somewhat agree” or “totally agree” to statements about changes in their awareness and concern regarding different triggers for AIP. * p-values were calculated with Mann-Whitney nonparametric U test. Results are presented as valid percent

Fig. 3

Frequency of respondents who answered “quite important”, “very important”, or “vital” to statements about their motives to undergo genetic testing for AIP. Results are presented as valid percent