Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of Life and Psychological Condition.

Jing Yang,Yongqiang Zhao,Xuezhong Yu,Tienan Zhu,Huadong Zhu,Yinan Jiang,Xiaoqing Li

doi:10.1155/2018/3216802

Jing Yang, Yongqiang Zhao + Show 5 more

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https://doi.org/10.1155/2018/3216802

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Abstract

Background Acute intermittent porphyria (AIP) is an autosomal recessive disorder with intermittent attacks. Patients with AIP are susceptible to impaired quality of life and psychological distress. Objectives To document the clinical features of AIP and its impact on SF-36 and IES scores of AIP patients in China and to explore the variables associated with SF-36 and IES scores. Methods A single investigator collated data related to treatments and outcomes in 27 patients with AIP of PUMCH. A cross-sectional questionnaire survey including the SF-36, the IES-R, and demographic questions was conducted in the north of China. Differences in the QoL scale/summary scores and proportions in the QoL dimensions between patients and the general population were analyzed. Independent effects of chronic conditions and demographic variables on the SF-36 and IES-R were analyzed. Results AIP patients had considerably lower SF-36 scores than the general population (the PF score and MH were lower than normal, P < 0.05). Working had higher RP than staying at home (P = 0.02); “without acute attack” had higher PF and BP scores and PCS composite score (P = 0.001). The mean IES-R score of AIP was higher than normal (36.7 ± 11.8 points, P < 0.001), “without acute attack” had lower intrusion score than “with acute attack” (P = 0.03). Conclusion AIP patients in China had impaired quality of life, especially in terms of physical health. The acute attacks coursed the posttraumatic stress disorder-related symptoms.

Highlights

Acute intermittent porphyria (AIP, OMIM 176000) is a rare autosomal dominant disorder, caused by a partial deficiency of porphobilinogen deaminase (PBGD), with the alternative name hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway [1]
The clinical features of AIP have been described in various case reports and small series, while larger studies have focused on particular aspects of the disease, such as genetics [2,3,4,5]
From January 2014 to December 2016, a total of 60 patients were diagnosed with acute intermittent porphyria in the emergency center and the gastroenterology department of Peking Union Medical College Hospital (PUMCH)

Summary

Introduction

Acute intermittent porphyria (AIP, OMIM 176000) is a rare autosomal dominant disorder, caused by a partial deficiency of porphobilinogen deaminase (PBGD), with the alternative name hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway [1]. Rare study has addressed the psychosocial consequences of AIP despite the apparent severity of symptoms and substantial changes to lifestyle necessary to avoid episodes of acute attack [6]. Acute intermittent porphyria (AIP) is an autosomal recessive disorder with intermittent attacks. Patients with AIP are susceptible to impaired quality of life and psychological distress. To document the clinical features of AIP and its impact on SF-36 and IES scores of AIP patients in China and to explore the variables associated with SF-36 and IES scores. AIP patients had considerably lower SF-36 scores than the general population (the PF score and MH were lower than normal, P < 0.05). AIP patients in China had impaired quality of life, especially in terms of physical health. The acute attacks coursed the posttraumatic stress disorder-related symptoms

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