Maternal and fetal outcome in Swedish women with erythropoietic protoporphyria

• Published in: British journal of dermatology (1951) Vol. 168; no. 6; pp. 1311 - 1315
• Main Authors: Wahlin, S., Marschall, H.-U., Fischler, B.
• Format: Journal Article
• Language: English
• Published: Oxford Blackwell Publishing Ltd 01.06.2013; Wiley-Blackwell
• Subjects: Adolescent; Adult; Biological and medical sciences; Breast Feeding; Cohort Studies; Dermatologi och venereologi; Dermatology; Dermatology and Venereal Diseases; European Continental Ancestry Group; Female; Humans; Infant, Newborn; Male; Maternal Welfare; Medical sciences; Medicin och hälsovetenskap; Menstruation - physiology; Metabolic diseases; Other metabolic disorders; Photosensitivity Disorders - etiology; Photosensitivity Disorders - metabolism; Pigments (porphyrias, hyperbilirubinemias...); Porphyrins - metabolism; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Protoporphyria, Erythropoietic - complications; Protoporphyria, Erythropoietic - physiopathology; Retrospective Studies; Skin involvement in other diseases. Miscellaneous. General aspects; Sunlight - adverse effects; Surveys and Questionnaires; Sweden; Young Adult; Sweden; Europe; Human; Photosensitivity; Skin disease; Prognosis; Dermatology; Metabolic diseases; Hepatic disease; Enzymopathy; Erythropoietic protoporphyria; Genetic disease; Pregnancy; Protoporphyrin; Mother; Pigments; Digestive diseases; Female; Fetus; Woman
• ISSN: 0007-0963; 1365-2133; 1365-2133
• DOI: 10.1111/bjd.12242

Summary Background Painful photosensitivity is characteristic of erythropoietic protoporphyria (EPP). In women, symptoms may be affected by menstrual cycle and pregnancy but very little is known about maternal and fetal outcome. Objectives To investigate the impact of menstruation, pregnancy and breast‐feeding on photosensitivity and possible effects of EPP on maternal, fetal and neonatal outcome. Methods Retrospective study screening all 20 Swedish women alive and older than 18 years diagnosed with EPP with a total of 33 deliveries. Data were retrieved for 19 women and 32 deliveries in medical records and completed by a questionnaire sent to the patients. Results Photosensitivity worsened in five of 19 (26%) women around menstruation whereas amelioration was reported in 17 of 32 (53%) pregnancies and during 11 of 32 (34%) breast‐feeding periods. Fertility rate was normal and there were no maternal or fetal complications apart from minor arterial hypertension in one woman. Conclusions The study confirms changes in photosensitivity during menstruation and pregnancy. Amelioration during breast‐feeding is a new finding. Pregnancy appears safe without increased risks of pregnancy complications or adverse effects on fetal or neonatal health. What's already known about this topic? Erythropoietic protoporphyria (EPP)‐related photosensitivity is often influenced by menstruation and pregnancy. Information on maternal and fetal outcome is scarce. What does this study add? This is the first comprehensive study of a national cohort of women with EPP. Findings confirm changes in photosensitivity during menstruation and pregnancy. Amelioration during breast‐feeding is a new finding. Pregnancy appears safe without increased risk of complications or adverse effects on fetal or neonatal health.