Patients with acute intermittent porphyria (AIP) have reduced quality of life, particularly physical health, a study has concluded. However, the authors also recommend focusing more attention on patients’ mental health.
The study titled, “Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of Life and Psychological Condition,” was published in the journal BioMed Research International.
AIP is a rare genetic disease with highly a variety of symptoms, which include abdominal pain, constipation, confusion, and convulsions.
Although studies have addressed its clinical features and genetics, there is very little information available regarding the psychosocial burden of AIP — despite the possible severity of symptoms and lifestyle changes needed to avoid acute attacks.
The MOS 36-item Short-Form Health Survey (SF-36) is a common method to assess health-related quality of life (HRQoL). It evaluates limitations in physical, social or everyday activities, bodily pain, general mental health, energy and fatigue, as well as general health perceptions. The survey may be divided into a physical domain and a mental domain, and its scale ranges from 0-100, with 100 representing the best health status.
In turn, the Impact of Event Scale-Revised (IES-R) is a 22-item self-report questionnaire that assesses subjective distress caused by traumatic events. Symptoms are rated 0-4, with higher scores indicating higher degree of traumatic stress.
The researchers intended to report clinical features and the impact of treatment on SF-36 and IES scores in 27 AIP patients in northern China. According to the authors, this was the first study of its kind in the Chinese population.
The scientists compared results in QoL scores and specific QoL dimensions between AIP patients and the general population.
Results revealed that patients with AIP had significantly lower SF-36 scores than the general population, particularly in physical functioning and mental health.
Also, patients who worked had lower (worse) “role physical” subscale scores than those staying at home, while absence of acute attacks, at least in the prior year, was associated with higher (better) scores in physical functioning, bodily pain, and physical component summary (an overall assessment of physical impairment where higher scores correlate with higher QoL).
Regarding IES-R, patients with AIP had significantly higher scores than controls.
Abdominal pain and constipation were the most frequently reported complaints from AIP patients, while neurological manifestations were more common than those found in medical records.
Among the study’s limitations, the authors mentioned the small sample size and its single-center design.
“AIP patients in China had impaired quality of life, especially in terms of physical health,” the researchers wrote.
“Clinicians should pay more attention to the mental health status and impaired quality of life of the AIP patients,” they added.