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Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life

2006; Oxford University Press; Volume: 155; Issue: 3 Linguagem: Inglês

10.1111/j.1365-2133.2006.07472.x

1365-2133

S.A. Holme, A. Anstey, A.Y. Finlay, George H. Elder, Michael N. Badminton,

Folate and B Vitamins Research

Background Erythropoietic protoporphyria (EPP) is a rare inherited photodermatosis that causes lifelong painful photosensitivity. Neither its full clinical spectrum nor its impact on quality of life (QoL) has been investigated in a large cohort of patients. Objectives To document the clinical features of EPP and its impact on QoL in a high proportion of all patients with EPP resident in the U.K. Methods Patients with EPP were identified from U.K. clinical databases and assessed by the same clinical investigator over a 7-month period using a standardized proforma and validated adult (Dermatology Life Quality Index, DLQI) and children's (Children's Dermatology Life Quality Index, CDLQI) QoL questionnaires. Results Three hundred and eighty-nine living patients with EPP were identified, of whom 223 [114 females, 109 males; median age 34 years (range: 5–87), from 193 families] were investigated. Total erythrocyte porphyrin (TEP) was higher in males (median: 25·3 μmol L−1) than females (median: 19·3 μmol L−1). The median ages at onset and diagnosis were 1 and 12 years, respectively. Median times for onset of symptoms after sun exposure, onset of signs (oedema, erythema) and resolution of symptoms were 20 min, 6 h and 3 days, respectively. Most patients reported absence of protection by glass (92%), priming (85%), exacerbation by wind (68%), no family history of photosensitivity (56%), no symptoms during winter (56%) and had chronic skin lesions (79%). Symptoms changed little with age but improved during pregnancy in 47% of gravid women. Most patients used protective clothing and a sunscreen; 28% were taking β-carotene and a further 56% had taken it; 29% were not under regular medical care. Two patients (1%) had liver failure and 8% reported gallstone disease. QoL was markedly impaired, with scores similar to those in severe dermatological disease (mean DLQI score 14·0, n = 176; mean CDLQI score 12·8, n = 44), indicating a large effect on patients' lives. DLQI scores correlated weakly with TEP (rs = 0·228; P = 0·002) and time to onset of symptoms (rs = −0·233; P = 0·002) but not with age at onset. Conclusions EPP is a persistent, severely painful, socially disabling disease with a marked impact on QoL. Its diagnosis is often overlooked. None of TEP, age at onset nor time to onset of symptoms is a useful predictor of impaired QoL in individual patients.