Erythropoietic protoporphyria in pregnancy
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A 41-year-old woman with EPP had one previous pregnancy with an uncomplicated normal vaginal delivery at term. She had symptoms of painful sensitivity from aged two and was eventually diagnosed with EPP aged 26 and was under regular follow up with a dermatologist. Genetic analysis with DNA sequencing of the ferrochelatase gene identified a novel mutation R164W in Exon 5. In addition, she had a low expression variant (IVS3-48C) of the other FECH gene. . The patient was otherwise, fit and well with a BMI of 19 and she was a non-smoker.

The main symptoms she encountered were of burning, itching and tingling on sun-exposed skin, especially the face and the back of the hands. This occurred within a few minutes of sun exposure. She mainly had no visible skin changes but did have occasional erythema. The symptoms were relieved with a cold compress. Prior to pregnancy, the patient was treated with phototherapy (UVB) and beta carotene with good response. Both of these treatments were stopped prior to pregnancy. Prepregnancy liver function tests and a liver ultrasound scan were normal. The patient had a spontaneous conception and the pregnancy was managed with advice from the National Porphyria Service. She was given iron and Vitamin D supplementation. Her hemoglobin and liver function tests were monitored in each trimester.

These remained within normal limits and anaemia did not develop. Erythrocyte protophyrin levels were elevated throughout pregnancy but this did not require any additional management. She had serial fetal growth scans with growth consistently above the 50th centile on customized growth chart. There were no abnormalities detected on the anomaly ultrasound scan. Her symptoms of photosensitivity improved throughout the pregnancy. The patient went into spontaneous labour at 40 weeks’ gestation and had an uncomplicated spontaneous vaginal delivery of an infant weighing 3410 g (52nd centile). The APGAR scores were 9 at 1 min and 10 at 5 min. The cord bloods for foetal erythrocyte protoporphyrin levels were not required as diagnosis in the baby is by genetic testing for the relevant gene mutations for EPP.