Acute intermittent porphyria (AIP) is a rare, often mis/underdiagnosed, inherited metabolic disease characterized by acute potentially life-threatening attacks and in some patients, chronic debilitating multi-systemic symptoms and manifestations that negatively impact patients’ daily functioning and quality of life. |
This qualitative research study undertook one-to-one interviews with 19 patients with AIP to characterize their symptoms and the impact of the disease burden on their daily lives. |
Patients with AIP having frequent attacks may have both attack and chronic disease symptoms, suggesting in some patients, AIP is not just an ‘intermittent’ disease but also has chronic symptoms, many of which are disabling. |
1 Introduction
2 Methods
2.1 Study Design and Procedures
2.2 Study Patients
Characteristic | Patients (n = 19) |
---|---|
Age, (years) | |
Mean (SD) | 40 (11) |
Range | 24–61 |
Sex | |
Female | 15 (79) |
Male | 4 (21) |
Employment status | |
Not employed | 12 (63) |
Full-time employment | 4 (21) |
Part-time employment | 3 (16) |
Education level | |
Post-graduate degree | 5 (26) |
Degree | 4 (21) |
Some college education | 3 (16) |
Trade program/certification | 3 (16) |
High school/GED equivalent | 3 (16) |
Some high school education | 1 (5) |
Income | |
< US$60,000 | 8 (42) |
$US60,000–$100,000 | 7 (37) |
> US$100,000 | 2 (11) |
Not specified | 2 (11) |
Marital status | |
Married | 11 (58) |
Single | 4 (21) |
Divorced/separated | 4 (21) |
Time since symptom onset, (years) | |
< 3 | 2 (11) |
3–10 | 8 (42) |
> 10 | 9 (47) |
Time since porphyria diagnosis, (years) | |
< 3 | 5 (26) |
3–10 | 10 (53) |
> 10 | 4 (21) |
Taking hemin prophylactically | |
Yes | 11 (58) |
No | 8 (42) |
Reporting chronic symptoms between attacks | |
Yes | 18 (95) |
No | 1 (5) |
Taking pain medication between attacks | |
Yes | 12 (63) |
No | 7 (37) |
2.3 Data Collection
2.4 Data Analysis
3 Results
3.1 Overall Experience of Acute Intermittent Porphyria
“I’ll feel like hot knives stabbing me.”
“My nausea is uncontrollable. And I—my body just doesn’t feel right anymore.”
3.2 Attack Experience
“Completely unbearable.”
“Something that is beyond my control.”
“I’ll know from experience I need to be hospitalized.”
“It will take me a couple of days just to lay in bed and sleep trying to recover.”
3.3 Attack Symptoms
“Agonizing”
“Unbearable”
“Stabbing, knife-like”
“Burning, like a fire”
“I’m more than in tears, like I am literally like crying, crying, because the pain is just, it’s so bad, it’s like a stabbing, it’s a burning, it’s a pulling and a twisting, it’s everything you could imagine, it’s the absolute worst pain in the world.”
“Some days I just feel like I hurt so bad that it’s like I actually will think out loud, like how is porphyria compatible with life, you know? When you get to that point where you’re in that much pain, it’s not compatible with life. You can’t live like that.”
“I’ll be in so much pain that I won’t be able to move.”
“Just so uncontrollable, even with all my medications.”
“It’s this spearing abdominal pain, like almost like someone is taking a hot butcher knife and tearing it through your stomach.”
Description | Severity | Duration | Location | |
---|---|---|---|---|
Attack pain | “It’s a real hot feeling like it feels like there’s hot coals packed in there. And it feels like someone’s like poking in more of them, and there’s all this pressure, you know, like stretching and burning … And then that like carries on. And then whenever, oh, and then sometimes also I’ll feel like hot knives stabbing me.” (Patient No. 16) “What would you do if you had what felt like a rock on fire inside of your abdomen? Like I mean other than obviously, you know, you would like, you would like curl up in the fetal position and cry.” (Patient No. 06) | “… but the pain I would say right now the pain is probably well over a 10.” (Patient No. 12) “And then the pain just being able to—or not being able to get out of bed, that sort of thing, when it gets to that level of severity.” (Patient No. 15) “… if I move into a more intensified attack that’s when the pain is completely unbearable and I go to the ER and get morphine through my port and—but it’s just a Band-Aid. You know, that pain is just going to relieve it for a few hours.” (Patient No. 01) “… the pain is so intense that I can be taking pain medicine all day long and the strongest stuff I have and nothing helps.” (Patient No. 10) | “Usually [the abdominal pain lasts] until I’m able to get to the hospital and get on IV pain medicine.” (Patient No. 15) | “So mostly burning in my abdomen, nausea, then the burning in my abdomen kind of radiates to my back, like on either side of my spine, and then I have like shooting, stabbing, burning pain in my lower back and down my legs, especially in my glutes.” (Patient No. 20) “Attack symptoms are more the horrible abdominal pain. When I was younger, it would just be localized to my abdomen. Now, it will be my back, my legs, my arms, my abdomen. It’s kind of an all-over pain.” (Patient No. 17) |
Chronic pain | “I actually did have to take pain medicine today because I feel my stomach has a dull, throbbing feeling.” (Patient No. 10) “I have like a neuropathy type feeling in the bottoms of my feet. Um, they go numb and burn a lot. They hurt.” (Patient No. 01) “Mostly it would be like fatigue and, and backaches. Very noticeable in the morning when I first wake up. I’m just really sore.” (Patient No. 09) | “A normal day I feel decent. My pain from one to 10 on an attack is a 10. But my pain on a normal day is about a two, a three.” (Patient No. 08) “I have pain disassociation so that my level of pain is at a five all the time, which is probably someone else—a normal person’s 10, because I’m so used to the pain.” (Patient No. 04) “I’m 38 years old and, you know, putting in an eight-hour day is something that’s just not possible for me.” (Patient No. 09) | “Almost every day with the exception of me being a couple days a month. I would say about five, four to five days I’m in pain.” (Patient No. 10) “I would say 80% of the time I’m symptomatic.” (Patient No. 18) “I guess then, throughout the day because it’s not like my hands are like painful all day. It just comes and goes.” (Patient No. 15) “I have pain all of the time if I don’t take pain medicine for it. And then it’s completely controlled with the pain medicine.” (Patient No. 17) | “Kind of a, a dull burning in the liver area as well as in the digestive area, colon such as that.” (Patient No. 01) “And then I get the pain that radiates down to my—down my extremities, my legs and my arms, but it’s not that same type of pain. Um, it’s really a radiating pain where you, it’s like tentacles going down, it feels like, and spreading and so.” (Patient No. 04) “I’d have it, you know, in my back, my arms, my legs.” (Patient Patient No. 17) |
“The nausea is what just knocks me out. I mean it just—literally, I cannot do anything. I get up in the morning and if the nausea is that bad, I’ll start eating some toast, trying to at least eat something, because I can’t go without eating because that makes me sicker.”
“You’re like throwing up to the point where like you want to die, and you’re spitting up bile, and even though your stomach is completely empty and you’re like, ‘where is this coming from? I haven’t eaten in hours. I’ve been throwing up for half a day’. I’m vomiting foam at that point.”
“… headaches so bad that they’ve caused me to lose my sight on numerous occasions.”
3.4 Chronic Experience
“Something I’m constantly having to manage.”
“Almost daily.”
“I don’t get a whole lot of relief in between attacks.”
“My condition seems to be more chronic than it is intermittent.”
“There’s not a week that goes by that I don’t have [chronic symptoms].”
3.5 Chronic Symptoms
“When I’m not having an attack I will experience some pain, like some joint pain in my knees and also the neuropathy in my hands. Those are my symptoms that don’t go away.”
“… pain level is probably like at a six out of 10, um, on a daily basis … I would say it feels like you—like I said, you have like little people in there with barbed wires, just like fighting.”
“I have pain disassociation so that my level of pain is at a five all the time, which is probably someone else, a normal person’s 10, because I’m so used to the pain.”
“I don’t really sleep well at night at all from the porphyria because, um, my back hurts and, uh, my feet hurt and my legs, they hurt a lot.”
“Nerve pain and nerve sensations because when you get numbness sometimes there’s nerves that are kind of alive and other parts that are dead. And it feels like something is crawling on you. And it’s like a bug is on your arm or something touches you on the middle of the night. It wakes you up. I get woken up a lot because of nerve sensation.”
“I was nauseated every day and it was like a six to a seven on the scale.”
“There is a days [sic] I somehow I cannot sleep at all, no matter how, no matter how I am tired.”
“… it’s so frustrating. You know, you shouldn’t be that tired. You know, you should be able to live a normal life.”
3.6 Impact of Acute Intermittent Porphyria on Patients’ Lives
Topic | Exemplar quotes |
---|---|
Sleep | “I don’t really sleep well at night at all from the porphyria because my back hurts and my feet hurt and my legs, they hurt a lot. I don’t know if it’s like restless leg syndrome, but it’s like I keep moving type of thing … I’ll jerk and it wakes me up when I do sleep, so I have a lot of problems with sleeping. And so when I wake up in the morning I’m always fatigued.” (Patient No. 01) |
Social | “I think the unpredictability [of] porphyria is frustrating. It’s difficult to make plans far out because of porphyria. I’ve missed friends’ weddings. I’ve had to cancel trips. Even appointments that day—I think one of the biggest ways that porphyria impacts your life is that it’s completely unpredictable. There’s no way I could be a reliable employee to somebody because I could not guarantee that I will be there tomorrow for work.” (Patient No. 06) |
Financial | “Well of course not being able to work has impacted our finances quite a bit and then the hospital bills have also been impacting our finances a lot.” (Patient No. 02) |
Nutritional | “My diet has changed by 80, 90% because I can’t [eat] anything anymore.” (Patient No. 08) “It hurts to eat … I don’t eat a meal or anything … it’s too painful. So I mostly just kind of eat small things during the day, and I drink a continuum of sugary liquids all day … I just won’t eat that much substance at all, because it’s too painful to eat … It’s the digesting later that hurts.” (Patient No. 16) |
Lifestyle | “So, things that I would want to do—travel, go places—if I get sick and I’m somewhere where they don’t know what—I mean, very few doctors understand what porphyria is or even how to treat it … That’s a huge concern. So we don’t travel much. It’s, you know, it limits your life.” (Patient No. 17) |
Psychologic | “I have to take all these stupid medications, and there’s so much stigma in society about prescription pain meds and stuff nowadays. So now it’s like this complete shaming process that I’m experiencing, even though I’m in no way addicted to anything. I’d throw it all away if all this would go away, but I have to now feel like I’m some kind of horrible person because I have pain and need pain medication. So I get to be shamed every time I go to the pharmacy to get my medicine.” (Patient No. 16) |
“I don’t really sleep well at night at all from the porphyria because my back hurts and my feet hurt and my legs, they hurt a lot.”
“It’s completely unpredictable. There’s no way I could be a reliable employee to somebody because I could not guarantee that I will be there tomorrow for work.”
“As a matter of fact, I have to make a phone call to my secondary insurance provider finding out why they dropped me because I just received a $650,000 bill.”
“Very few doctors understand what porphyria is or even how to treat it.”
“I have to take all these stupid medications, and there’s so much stigma in society about prescription pain meds.”