Self-rated psychosocial consequences and quality of life in the acute porphyrias

A battery of self-report psychosocial measures was mailed to 116 patients w ho had been referred for clinical management (clinic attenders) or laborato ry diagnosis (non-clinic attenders) to the London Supraregional Assay Servi ce Centre for Porphyria over the past decade and who tested positive for po rphyria. Usable replies were received from 81 (70%) patients. Our interest focused on the prevalence of psychosocial symptoms in acute porphyrias and the perceived effects of porphyria on quality of life and patient experienc e. Research questions examined included (i), lifestyle factors; (ii) life e vents; (iii) mental health; (iv) general health; and (v) perceptions of ill ness of patients receiving specialist clinical management compared to respo ndents referred for diagnostic investigations, between patients with latent or manifest symptomology and between patients with different types of porp hyria. Patients with porphyria have an impaired quality of life, particularly mani fest cases, compared to controls and to diabetic patients. Depression, and particularly anxiety, is more common than in the general population or gene ral medical outpatient attenders. Quality of life is lower in acute intermi ttent porphyria (AIP) than in other forms of porphyria and a significant nu mber of patients had major life event consequences, e.g. failure to secure, or loss of, employment, limitation of family size. Patients attending a cl inic providing specialist porphyria advice, management and counselling rece ived some perceived lifestyle benefits.