According to a recent study, women with acute hepatic porphyria (AHP) who experience sporadic attacks reported experiencing chronic symptoms and significant disruption in daily activities around each attack.
During patient interviews, these women also frequently described “flare-ups” of symptoms that they did not consider an attack of acute porphyria, but were nonetheless severe.
“The reported severity of these symptoms and impacts suggests that the humanistic burden of AHP [with sporadic attacks] is substantial and may result in a significant decrease in health-related quality of life in these patients between acute attacks,” the researchers wrote.
“The presence of flare-ups that do not reach the level of what is considered an acute attack by patients is a unique finding from this study not reported elsewhere and warrants further investigation,” the team added.
The study, “Patient perspective on acute hepatic porphyria with sporadic attacks: a chronic disease with substantial impacts on health-related quality of lifewas published in the journal Advances in Therapy.
Investigation of sporadic attacks in AHP
AHP encompasses four types of porphyria: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria, and ALAD porphyria. Broadly, all four types are characterized by severe acute attacks consisting of a range of symptoms. Among them, the most common are abdominal pain, vomiting, muscle weakness, high blood pressure, and altered mental status, all of which are usually serious.
But patients can also experience chronic symptoms between acute attacks.
Overall, many AHP patients report a significant decline in health-related quality of life. This is largely due to disruptions in daily activities, the emotional burden of illness, sleep problems and medical costs.
However, most studies generally focus on patients with frequent attacks – at least three per year – so the experience of those with more sporadic attacks is not 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 experiencing less frequent attacks.
Participants in 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 having had at least one attack in the past two years, but no more than two per year.
A total of 14 women, aged 23 to 72, with an average age of 45.4 years, were interviewed and included in the analysis. Two of the women had VP, while 12 had AIP.
The most frequently reported symptom was fatigue or lassitude (13 women), the frequency of which varied from daily to every two months.
“You don’t have a lot of energy sometimes,” said one participant. “Sometimes I have no energy at all. I am very sleepy. I sleep most of the time – more, I think, than most people.
A common theme in the interviews was the impact of fatigue on daily life, the researchers noted.
“I’m always tired and doing everything I can to try to get through the day and it’s really hard to keep a full time job and try to do normal daily activities because of the pain I feel, in addition to being tired,” said one of the respondents.
Various types of chronic pain were commonly experienced, with some type of pain reported by 13 of the women. Other frequently reported symptoms were nausea (eight women) and constipation (seven patients).
To manage many chronic symptoms, respondents said they used medications or other treatments, some of which required a doctor’s prescription.
Patients: “flare-ups” are not an attack of acute porphyria
Participants often described “flares” or “episodes” marked by an increase in the severity, frequency and/or duration of one or more chronic symptoms, but not to a level that they considered a acute crisis.
Such attacks, although described in different ways and with varying degrees of severity, were experienced by seven women (50% of patients). These women reported using a variety of strategies to prevent a flare-up from becoming a full-blown porphyria attack.
“If I take it easy and – or take a day off or do – you know, adjust what I eat or try to sleep more, it will usually calm down. But it’s when I try to do these things and the pain keeps getting worse that it then turns more into an attack,” one woman said.
Respondents reported experiencing significant chronic impacts on their lives due to ongoing symptoms and flare-ups. The most frequently reported impact was difficulty performing daily tasks, which was cited by 11 women.
A loss of work capacity was experienced by 10 women. A woman recalls losing her dream job following recurring attacks.
“That’s what I trained for for many years and that was my life’s ambition. So that’s what it means to me. More than the pain and everything, it was the fact that I lost the opportunity,” she said.
Other impacts, reported by at least 50% of women, included anxiety, depression or sadness, difficulty exercising and needing a special diet. Half of the women also said the disease had a negative impact on their finances.
The study points out that “even patients who experience only sporadic attacks also suffer from significant impairment,” the researchers wrote.
“These data also highlight why regular monitoring of patients with AHP, regardless of attack rate, may be necessary and underscores the need for further research to better understand the unmet need in the population for sporadic attacks.” , concluded the team.