Among patients with porphyria cutanea tarda (PCT), a greater number of symptoms and lack of treatment are linked with overall worse health-related quality of life (HRQoL), according to research published in Health and Quality of Life Outcomes.

PCT is a rare inherited or acquired disease characterized by the accumulation of water-soluble porphyrins in the skin, leading to photosensitivity. Clinically, this manifests as any of a number of possible complaints, including skin fragility, blistering, milia, hypertrichosis, and hyperpigmentation.

Optimal clinical outcomes depend on patient’s understanding and expectations of the disease. Given the potential for significant psychological effects due to the visible consequences of PCT, low HRQoL is a risk among patients; for this reason, patient identification is important.

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Investigators conducted a cross-sectional, retrospective study to characterize and assess the associations between HRQoL, symptoms, susceptibility factors, disease activity, and treatment. The researchers invited 111 patients diagnosed with PCT at the Norwegian Porphyria Centre to participate in a questionnaire survey. All included patients completed the Short Form-12 Health Survey version 2, which was developed in collaboration with patients, patient organizations, and focus groups.

Overall, information from 61 patients was included in this analysis; the median age was 60 years (range, 24-79 years), 28 patients were men, 26 patients had familial PCT, and 39 patients were non-smokers. The median number of days from submission of sample leading to PCT diagnosis to questionnaire completion was 70 days (range, 21-167 days).

The researchers noted a negative relationship between the variety and localization of disease symptoms and both mental (R = -.354; P < .001) and physical (R = -.441) HRQoL. Patients who had started treatment at the time of filling out the questionnaire reported better physical functioning and less bodily pain than those who had not yet initiated treatment.

An association between PCT disease activity biochemical markers and symptoms or HRQoL was not observed. In addition, 59% percent of patients reported itching — an issue that does not usually receive attention in this area.

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“Our results indicate that annual follow-up could be important for avoiding relapses that might negatively influence the patients’ HRQoL,” the authors wrote. “To avoid the increased risk of infections and delay in healing, symptoms of itching and treatment options should be addressed in patient consultations.”

“PCT is a rare disease, and many physicians will have little or no experience with the best ways to treat and follow up such patients. This highlights the need for the development of best-practice guidelines to facilitate good patient care,” the investigators concluded.


Andersen J, Thomsen J, Enes A, Sandberg S, Aarsand AK. Health-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study. Health Qual Life Outcomes. 2020;18(1):84.