AIP Patients Need Support, Education to Avoid Recurrence, Study Says

Joana Carvalho, PhD avatar

by Joana Carvalho, PhD |

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Continued support, counseling, and education are important for patients with acute intermittent porphyria so that they can use that knowledge to avoid disease recurrence, a study says.

The findings of the study, “Self-efficacy and self-management strategies in acute intermittent porphyria,” were published in BMC Health Services Research.

Porphyrias are a group of genetic metabolic disorders characterized by the body’s inability to produce heme — a molecule essential for red blood cells’ oxygen transport and compounds’ breakdown in the liver.

Acute intermittent porphyria (AIP) is the most common and most severe form of acute porphyria. It is caused by mutations in the hydroxymethylbilane (HMBS) gene, which provides instructions to make an enzyme called hydroxymethylbilane synthase that produces heme.

Although most AIP patients experience few or no symptoms , some may have attacks of severe abdominal pain, high blood pressure, fast heartbeat, and even respiratory failure that may require hospitalization.

“Studies indicate that drug use, including alcohol, and hormonal changes are the most frequent inducers of acute attacks, with additional triggers being smoking, infections, physical and psychological stress, hunger, and crash dieting,” the investigators said.

“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,” they said.

“Genetic counseling has the potential to provide AIP patients and their families with information about self-management strategies that might help reduce the risk of [disease recurrence]. However, there is lack of knowledge on whether receiving an AIP diagnosis and counseling have an impact on behavior and whether this is associated with self-efficacy in patients with AIP,” they noted.

In this study, a group of researchers from the Norwegian Porphyria Centre (NAPOS) set out to examine the adherence and effects of self-efficacy — an individual’s degree of optimism and self-confidence — and self-management strategies in a group of AIP patients receiving genetic counseling.

Investigators also sought to pinpoint why patients felt compelled to seek genetic counseling, and their degree of satisfaction with the service.

The cross-sectional retrospective study was based on surveys to gather patient-reported outcomes of self-efficacy, self-management strategies, and satisfaction with genetic counseling.

The study involved 140 patients who carried mutations in the HMBS gene, including 106 who had already experienced symptoms at some point in their lives, 28 who never experienced symptoms, and six unclassified.

Results showed that the 136 patients who completed the general self-efficacy scale (GSES) attained a median score of 30 or more, which corresponds to a high level of perceived self-efficacy (ability to cope and make good choices), regardless of sex and presence/absence of symptoms.

“Most respondents reported that they were more cautious with potential AIP triggers at the time of the survey compared with before receiving their diagnosis. This was especially evident in regard to checking medications. More than half of the respondents also reported greater motivation for eating regular meals, avoiding stressful situations, reducing consumption of alcohol and tobacco, and avoiding contact with chemical solvents,” the researchers said.

Among the 51 who reported to have received genetic counseling, all were generally satisfied with the service. According to survey data, the main reasons patients sought genetic counseling were family disease history (86%), to learn more about the possibility of disease prevention (81%) and risk of transmission to their children (74%).

“Our study indicates that Norwegian HMBS mutation carriers have both the knowledge and the self-motivation to make good choices that might aid in preventing activation of the disease. Therefore, providing information, counseling, and education is worthwhile in AIP,” the scientists stated.