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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.

SUBMITTER: Hammersland MH

PROVIDER: S-EPMC6607542 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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

Hammersland Marte H MH Aarsand Aasne K AK Sandberg Sverre S Andersen Janice J

BMC health services research 20190703 1

<h4>Background</h4>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 ...[more]

PMID: 31269991

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Project description:In the inherited metabolic disorder acute intermittent porphyria (AIP), high sugar intake prevents porphyric attacks due to the glucose effect and the following high insulin levels that may lower AIP disease activity. Insulin resistance is a known risk factor for periodontitis and sugar changes diabetogenic hormones and affects dental health. We hypothesized differences in homeostasis model assessment (HOMA) scores for insulin resistance in AIP cases vs. controls and in those with periodontitis. Our aim was to systematically study dental health in AIP as poor dental health was previously only described in case reports. Further, we aimed to examine if poor dental health and kidney failure might worsen AIP as chronic inflammation and kidney failure might increase disease activity. In 47 AIP cases and 47 matched controls, X-rays and physical examination of clinical attachment loss (CAL), probing pocket depth (PPD), and decayed missing filled teeth (DMFT) were performed. Dietary intake was evaluated through a diet logbook. Plasma cytokines and diabetogenic hormones were measured using multiplex technology and urine porphobilinogen and kidney and liver function by routine methods. An excel spreadsheet from the University of Oxford was used to estimate HOMA scores; beta cell function, HOMA%B (%B), insulin sensitivity, HOMA%S (%S), and insulin resistance HOMA-IR (IR), based on glucose and plasma (P) C-peptide. The Wilcoxon matched-pairs signed rank test, the Mann−Whitney U-test, and Spearman’s non-parametric correlation were used. Insulin (p = 0.007) and C-peptide (p = 0.006) were higher in the AIP cases with periodontitis versus those without. In AIP patients, the liver fibrosis index 4 correlated with DMFT (p < 0.001) and CAL ≥4 mm (p = 0.006); the estimated glomerular filtration rate correlated with DMFT (p < 0.001) and CAL ≥4 mm (p = 0.02). CAL ≥4 mm was correlated with chemokine ligand 11 and interleukin (IL)-13 (p = 0.04 for both), and PPD >5 mm was correlated with plasminogen activator inhibitor-1 (p = 0.003) and complement component 3 (p = 0.02). In conclusion, dental health in AIP cases was correlated with insulin resistance, inflammatory markers, and biomarkers of kidney and liver function, demonstrating that organ damage in the kidney and liver are associated with poorer dental health.

Dataset Information

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

Publications

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

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