Abstract
BackgroundAcute 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.MethodsThis 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).ResultsThe 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.ConclusionsThis 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.
Highlights
Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene
In some patients, AIP is a chronic and debilitating disease with severe, recurrent acute attacks and low quality of life [25], while in the majority of patients, acute attacks are sporadic and infrequent. In both symptomatic AIP patients and genetically predisposed Hydroxymethylbilane gene (HMBS) mutation carriers, life-long adherence to preventive measures is required and the disease carries the risk of severe acute attacks and serious long-term complications
Almost all participants reported that they were aware of the risk of using medications listed as porphyrinogenic, which is similar to the results of Andersen et al [16]
Summary
Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene. Studies indicate that drug use including alcohol and hormonal changes are the most frequent inducers of acute attacks [11], with additional triggers being smoking, infections, physical and psychological stress, hunger and crash dieting [12, 13]. Avoidance of these triggers is recommended both to prevent HMBS mutation carriers not yet having symptoms from manifesting the disease, and to reduce the frequency and severity of attacks in patients who have already had symptoms of AIP. Smoking is advised against, as smokers have been described to have more frequent acute attacks than non-smokers [12]
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