PD01 First UK report of pregnancy and childbirth in X-linked erythropoietic protoporphyria

Abstract

Abstract X-linked erythropoietic protoporphyria (XLEPP), an exceptionally rare form of cutaneous porphyria, is characterized by significant acute painful photosensitivity and a risk of both reduced bone mineral density and protoporphyric hepatopathy that may progress to liver failure. Diagnosis requires demonstration of significantly elevated red cell total porphyrins consisting of both zinc and free protoporphyrin analysed on venous whole blood. As the condition is X-linked, any offspring of an affected woman has a 50% chance of inheriting the disease-causing ALAS2 gain-of-function mutation. There are no reported cases of pregnancy in XLEPP in the literature, and no published experience of managing newborn infants that may have inherited XLEPP who develop neonatal jaundice, which requires treatment with phototherapy. Here we describe the clinical course of a 29-year-old woman with XLEPP (part of a four-generation XLEPP family) and idiopathic thrombocytopenia during pregnancy—the first documented case in the UK, to our knowledge. A multiprofessional team considered the potential risks posed by XLEPP and idiopathic thrombocytopenia for the pregnancy, birth and newborn. Haematological and biochemical indices were monitored throughout the pregnancy. The mother experienced increased photosensitivity and worsening idiopathic thrombocytopenia during the pregnancy, the majority of which occurred over summer. Idiopathic thrombocytopenia did not respond to treatment with steroids and immunoglobulin, necessitating a general anaesthetic for the planned caesarean section. A male infant was born in good condition at term. Maternal blood loss was only just above average. The baby remained well in the immediate postnatal period. Although the baby did not require treatment for jaundice, management planned in advance included minimizing factors predisposing to jaundice, including optimal timing of cord clamping and early feed support, the urgent analysis of cord blood erythrocyte porphyrins within 24 h, using a light-emitting diode phototherapy device with narrow spectrum emission between 450 and 470 nm and minimal emission at 400 nm, monitoring the baby closely for signs of distress and skin changes, and considering adjustment of the phototherapy thresholds or using alternative treatments should jaundice occur. Cord blood erythrocyte total porphyrin results suggested the baby had inherited XLEPP and would be photosensitive. This was later confirmed by mutation analysis.