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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.

Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreign neighbour countries studied at molecular level at Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP). Thirty-five different mutations were found, of which 14 were described for the first time in our population. The most prevalent type of mutations was the missense mutations (43%) followed by splice defects (26%) and small deletions (20%). An odd case of a double heterozygous presentation of AIP in a foreign family from Paraguay is discussed. Moreover, it can be noted that 38 new families were found carrying the most frequent mutation in Argentina (p.G111R), increasing to 55.66% the prevalence of this genetic change in our population and adding further support to our previous hypothesis of a founder effect for this mutation in Argentina. Identification of patients with an overt AIP is important because treatment depends on an accurate diagnosis, but more critical is the identification of asymptomatic relatives to avoid acute attacks which may progress to death.