Most acute intermittent porphyria patients spoke in a small study of experiencing chronic symptoms in addition to acute attacks, and felt they significantly affected their ability to go about many activities that make up daily life.
The study, “Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations,” was published in the journal The Patient – Patient-Centered Outcomes Research.
Acute intermittent porphyria is a rare metabolic disorder that affects the production of heme, which is an important part of hemoglobin — the protein that transports oxygen in red blood cells.
Patients with acute intermittent porphyria have debilitating attacks leading to frequent hospitalizations and an overall poorer quality of life.
The most commonly reported symptoms associated with attacks include severe pain affecting the abdomen, back, or limbs; nausea and vomiting; high blood pressure; motor weakness; insomnia; or anxiety.
Generally, porphyria attacks last five to seven days, although more severe ones can last longer.
While acute intermittent porphyria is generally thought of as an acute disorder with recurrent attacks, studies have recently found that many patients also experience chronic — persisting — symptoms.
Clinical aspects of acute intermittent porphyria attacks are well-documented, but the patient experience is not.
Researchers sought to characterize that experience in people with frequent attacks. They recruited 19 patients with frequent acute intermittent porphyria for two-hour, one-on-one interviews.
Interviews revealed that 18 of these 19 patients (95%) had both acute attacks and chronic symptoms.
Patients described the attacks as extremely incapacitating episodes characterized by progressive and uncontrollable symptoms, that they usually span three-to-five days and required hospitalization or treatment.
The most common symptoms associated with such attacks were pain, nausea, and vomiting.
Chronic symptoms described included pain, nausea, fatigue, and aspects of neuropathy like tingling and numbness.
But patients said the pain experienced during an attack was “agonizing” and “unbearable.” The pain of chronic symptoms ranged from sore and dull, to aching, throbbing, or burning.
Chronic symptoms also affected daily life, the patients said, with sleep, ability to work, finances and medical costs, difficulty walking, and lost social opportunities the aspects of everyday life most affected.
“In these patients, acute intermittent porphyria appears to have acute exacerbations as well as chronic day-to-day manifestations, and is not just intermittent as its name implies,” the researchers concluded.