Women with sporadic AHP attacks report disturbances in daily life Severe “relapses” often occur with any acute attack of porphyria


According to a recent study, women with acute hepatic porphyria (AHP) who experience sporadic attacks reported chronic symptoms and significant disruption to their daily activities around each attack.

In discussions with patients, these women also frequently described symptom “relapses” that they did not classify as an acute porphyria attack, but which were nevertheless severe.

“The reported severity of these symptoms and effects suggests that the humanistic exposure to AHP [with sporadic attacks] is significant and can result in significant impairment of health-related quality of life in these patients between acute attacks,” the researchers wrote.

“The presence of flares that do not reach the level considered by patients as an acute seizure is a unique finding of this study, not reported elsewhere, and requires additional investigation,” the team added.

The study, “Patient perspective on acute hepatic porphyria with sporadic attacks: a chronic disease with significant health-related impacts on quality of life‘ was published in the magazine advances in therapy.

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Investigating sporadic attacks in AHP

AHP includes four types of porphyrias: acute intermittent porphyria (AIP), variegated porphyria (VP), hereditary coproporphyria, and ALAD porphyria. Broadly speaking, all four types are characterized by severe, acute attacks consisting of a range of symptoms. Common among them are abdominal pain, vomiting, muscle weakness, high blood pressure, and altered mental status, all of which are usually severe.

But patients can also experience chronic symptoms between acute attacks.

Overall, many AHP patients report significant losses in their health-related quality of life. This is mainly due to disruption to daily activities, the emotional toll of the illness, sleep problems, and medical costs.

However, most studies tend to focus on patients with frequent attacks—at least three per year—so the experience of patients with more sporadic attacks isn’t as well understood.

To fill this knowledge gap, a research team — which included porphyria patients and caregivers — conducted semi-structured telephone interviews with AHP patients who had less frequent attacks.

Participants with these sporadic attacks were recruited and enrolled through two patient advocacy groups: the American Porphyria Foundation and the British Porphyria Association. Sporadic attacks were defined as at least one attack in the past two years, but no more than two per year.

A total of 14 women aged 23-72 years with a mean age of 45.4 years were interviewed and included in the analysis. Two of the women had VP while 12 had AIP.

The most commonly reported symptom was fatigue or fatigue (13 women), ranging in frequency from daily to every two months.

“Sometimes you don’t have that much energy,” said one participant. “Sometimes I have no energy at all. I’m very tired. I sleep most of the time – more, I think, than most people.”

A common theme across the interviews was the impact of fatigue on daily life, the researchers noted.

“I’m always tired and I’m trying to do whatever it takes to get through the day and it’s really hard to keep a full-time job and try to go about normal daily activities because of the pain I’m feeling and being tired,” he said one of the respondents.

Different types of chronic pain were commonly experienced, with 13 of the women reporting some type of pain. Other commonly reported symptoms were nausea (eight women) and constipation (seven patients).

To treat many chronic symptoms, respondents reported using medication or other treatments, some of which required a prescription from a doctor.

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Patients: “Flares” not an acute attack of porphyria

Participants frequently described “relapses” or “episodes” characterized by an increased severity, frequency, and/or duration of one or more chronic symptoms, but not to a degree that they considered an acute attack.

Seven women (50% of patients) experienced such flares, although they were described in different ways and with different degrees of severity. These women said they used various strategies to keep a flare from turning into a full-blown porphyria attack.

“If I take it easy and — or take a day off or do — you know, adjust my diet or try to get more sleep, it’ll usually settle down. But when I try to do those things and the pain gets worse and worse, it’s more likely to turn into a seizure,” said one woman.

Respondents said they had significant chronic impacts on their lives due to persistent symptoms and flare-ups. The most commonly reported effect was difficulty performing daily tasks, cited by 11 women.

A loss of working capacity was experienced by 10 women. One woman recalled losing her dream job due to repeated attacks.

“I trained for this for many years and it was my lifelong ambition. So that’s what it means to me. More than the pain and anything, it’s the fact that I missed the opportunity,” she said.

Other effects reported by at least 50% of women included anxiety, depression or sadness, difficulty exercising, and the need for a special diet. Half of the women also reported that the disease had a negative impact on their finances.

The study highlights that “even patients who experience only sporadic seizures also experience significant impairment,” the researchers write.

“These data also highlight why regular monitoring of patients with AHP may be necessary regardless of attack rate, and underscore the need for additional research to better understand the unmet need in the sporadic attack population,” the team concluded.


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