Living with cutaneous porphyria: findings from a qualitative survey study

Background Cutaneous porphyria is a rare skin disorder caused by the build-up of organic chemicals called porphyrins following exposure to sunlight. Clinical cutaneous features may include skin fragility, bullae, neuropathic-type pain, oedema and erythema, depending on the specific type of cutaneous porphyria. In some ultra-rare forms, features may even include severe scarring and mutilation. Although symptoms in most cases can be managed, there is no cure for cutaneous porphyria. Having cutaneous porphyria may have a strong negative impact on a person’s mental health and quality of life. Objectives To explore what it is like to live with cutaneous porphyria and to increase healthcare practitioners’ awareness of the difficulties faced by patients with cutaneous porphyria. Methods A total of 82 adult participants representing 12 nationalities from 5 different continents completed an online qualitative survey about their experiences of living with cutaneous porphyria. Data were subjected to descriptive, inductive thematic analysis. Results Four main themes were identified. These concerned (i) the physical symptoms and available treatments for the illness; (ii) the restrictions imposed by the illness; (iii) the impact of the illness on social relations; and (iv) the mental health implications of the illness. Participants’ responses highlighted a host of difficulties, ranging from the physical manifestations of the condition, which often include unbearable pain, to restrictions in all spheres of life (e.g. working, travelling, doing outdoor sport and leisure activities, and going out with children, partners and friends) imposed by the necessity to avoid sunlight. In turn, the symptoms of the illness, as well as the restrictions caused by these symptoms, negatively affected participants’ social relations, including intimate ones, and mental health, with many participants reporting feeling depressed, lonely, isolated and anxious. The data also showed that patients do not always feel understood or properly cared for by medical practitioners. Conclusions Efforts should be made to raise awareness and knowledge among healthcare practitioners of the difficulties faced by patients with cutaneous porphyria, with the aim of improving the quality of interactions, communication and support.