Anthropometric and Quality-of-Life Parameters in Acute Intermittent Porphyria Patients

Abstract

The porphyrias are a group of rare metabolic disorders. The incidence and prevalence are low because the acute intermittent porphyria (AIP) is rare. Our aim was to assess the use of anthropometric and quality-of-life parameters in porphyric patients in order to identify predictor factors that might help in characterizing AIP patients.Sixteen AIP patients from Murcia (Spain) were recruited from local health centers in 2008 and 2009. A control group of 16 healthy people was established. Body composition was assessed by bioelectrical impedance analysis (BIA) and anthropometric measurements: body weight; height; knee-heel height; waist, hip, upper arm and calf circumferences (CCs); biacromion and biiliac diameters; bicondylar and biepicondylar width; and triceps, subscapular, supraspinale, and calf skinfold thickness. Anthropometric indicators were obtained from anthropometric measurements. A quality-of-life evaluation was carried out using the EuroQol-5D (EQ-5D) questionnaire and Barthel and Katz indexes. Significant differences in means were tested by unpaired Student t test. Group differences in anthropometric measurements were tested with a 2-way analysis of variance (group × condition: age group, overweight, and adiposity degree). Relative frequencies were obtained for noncontinuous variables. Significant differences in prevalence were calculated by means of χ2.AIP patients showed statistically significant differences in terms of knee-heel height, biiliac diameter, CC, triceps skinfold thickness, BIA, ponderal index, endomorphy, and ectomorphy. Only 1 quality-of-life indicator, visual analog scale, in the EQ-5D questionnaire showed significant differences between porphyric and control groups.Some anthropometric parameters and the EQ-5D questionnaire could be used to appreciate the presence or follow the evolution of the disease in AIP patients.

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study

“…All patients agreed that AHP is a serious disease with significant impact on their daily lives and social functioning, consistent with the previous literature 15–17 . Patients reported having to stop working due to their disease and struggled with feelings of isolation and guilt.…”

“…Prior studies reporting on the QoL of patients with the AHPs have used quantitative survey instruments such as the Illness Perception Questionnaire, the Hospital Anxiety Depression Scale, and the EuroQoL which showed that patients have a significantly impacted QoL 15–17 . However, these tools do not cover domains such as fatigue and stress management, which patients specifically mentioned as issues in this study.…”

“…These studies have reported that symptomatic AHP patients have decreased quality of life (QoL), an increased incidence of anxiety and depression, impaired physical functioning, and a negative disease impact on employment 15–17 . The experiences of five women over 55 years old who had recurrent acute attacks were assessed using individual structured interviews 18 .…”

Medical and financial burden of acute intermittent porphyria

“…This therapy is, however, complicated by iron overload, phlebitis, venous thrombosis and frequent need for venous access devices, and is a significant burden for the patient (Willandt et al 2016). Patients who suffer from recurrent attacks report a low quality of life (QoL) and a negative impact on several aspects of everyday life, including unemployment, personal relationships and long-term disability (Millward et al 2001;Jiménez-Monreal et al 2015;Naiketal2016).…”

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients

“…AIP patients carried a mutation in the 12 exon (30-bp deletion) 669–698 position, 11 g 23Æ3 locus, and presented PBGD enzyme activity decreased by 50%. A complete clinical, biochemical and anthropometric characterisation of these patients has already been published [9,12]. Control group was formed by 16 healthy volunteers (11 females and 5 males) who shared similar age, height and weight values as the patients.…”