AIP Affects Quality of Life, Even With Infrequent Attacks

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by Forest Ray PhD |

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People with symptomatic acute intermittent porphyria (AIP) should be monitored regularly, as this disorder can affect their quality of life even if their attacks are infrequent.

A recent study with that finding revealed evidence of significant chronic symptoms and long-term medical conditions among patients with sporadic AIP, as compared to those with latent AIP, even in the absence of frequent attacks.

The study, “Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients,” was published in the Orphanet Journal of Rare Diseases.

Neurovisceral attacks, often featuring abdominal pain, vomiting, and a high heart rate, can accompany AIP, while being separated by intervening attack-free periods.

Many AIP patients have a latent version of the disorder, in which they never experience these attacks. Those with manifest AIP, however, may experience sporadic attacks (less than four per year) or recurrent attacks (more than four per year).

Although long-term conditions, such as high blood pressure and kidney disease, and chronic symptoms, including abdominal pain, weakness, and nausea have been observed in these patients during attack-free periods, studies tend to focus on those with recurrent AIP.

A team of scientists from various institutions in Murcia, Spain, assessed AIP’s health impact during non-attack periods in patients with sporadic AIP, and also those with latent AIP.

They examined data from a total of 55 patients, including 27 with sporadic AIP and 28 with latent disease. Patients in these groups had a mean age of 47.5 and 41.3 years, respectively, and experienced a mean of 2.27 attacks (2.45 in women and 1.66 in men).

Individuals with sporadic AIP experienced more long-term clinical conditions and chronic symptoms than their latent AIP peers.

Eight of the 55 participants (14.5%) had been diagnosed with chronic kidney disease, all of whom had sporadic AIP. Investigators saw this as evidence of an increased risk of chronic kidney disease in this particular group of patients, even among those who had only one or two acute attacks in their lives, as occurred with many participants in this study.

The proportion of patients who had elevated levels of liver enzymes — a sign of liver damage and inflammation — also was higher among those with sporadic AIP compared to those with latent disease (11.1% vs. 3%).

Individuals with sporadic AIP reported nearly twice as many chronic symptoms as those with latent AIP (85.2% vs. 46.4%). Abdominal pain, fatigue, muscle pain, and insomnia occurred much more frequently in those with sporadic disease, compared to patients with latent AIP.

Researchers assessed health-related quality of life via the EQ-5D-5L questionnaire, which asks respondents to rate their mobility, self-care, usual activities, pain/discomfort, and anxiety/depression.

Sporadic AIP patients generally has poorer scores, with the effects of pain, anxiety/depression, and mobility rated as significantly more intense than latent AIP individuals.

Most (85.2%) sporadic AIP patients reported to experience some degree of pain. In about a third of the cases (29.6%) pain was described as being moderate or severe. In contrast, about a third (32.2%) of latent AIP patients reported pain, with only 7.2% describing their pain as “more than slight.”

Five patients with sporadic AIP (18.5%) reported moderate anxiety/depression problems, while latent patients described only slight problems.

Nearly half (44.4%) of those with sporadic AIP reported slight-to-severe mobility problems, while 10.7% of patients with latent disease described moderate issues.

To the investigators’ knowledge, this is the first study to describe the occurrence of chronic disease manifestations in patients with sporadic and latent AIP.

The group noted that given the relatively young average age of the individuals with sporadic AIP (47.5 years), the findings in this study may represent early-onset manifestations of chronic conditions that are still developing.

Although these findings should be corroborated with more studies involving healthy controls, researchers aid, they reinforce the negative health impacts of sporadic AIP and the need for regular patient monitoring.

“AIP should not be considered only as an acute disease,” the researchers concluded, “since neurovisceral attacks are not the only clinical expression of the disease.”