MISCARRIAGE DUE TO RECURRENT ACUTE PORPHYRIC ATTACKS DURING PREGNANCY IN A PATIENT WITH ACUTE INTERMITTENT PORPHYRIA

Bartz C1, Poblete-Gutiérrez P2, Kunitz O3, Wiederholt T2, Merk Hf4, Rath W1, Frank J5

 

1Department of Obstetrics and Gynecology, 2Department of Dermatology and Allergology and Porphyria Center and Interdisciplinary Center for Clinical Research, 3Clinic for Anaesthesiology, 4Department of Dermatology and Allergology, 5Department of Dermatology and Allergology and Porphyria Center, University Clinic of the RWTH Aachen, Aachen, Germany

 

 

The porphyrias comprise a heterogeneous group of diseases resulting from an enzymatic dysfunction in heme biosynthesis. Acute intermittent porphyria (AIP; OMIM 176000) is an autosomal dominantly inherited disorder caused by a partial deficiency of the enzyme porphobilinogen deaminase (PBGD). Clinically, AIP is characterized by acute life-threatening neurovisceral attacks, which can lead to paralysis and death. These acute attacks can be precipitated by several triggering factors, e.g. porphyrinogenic drugs and hormones. However, little is known about the effects of pregnancy on the course of acute porphyrias and vice versa. Here, we present a 20-year-old woman previously diagnosed with AIP biochemically and by molecular genetic techniques. Due to recurrent porphyric attacks every three to four weeks frequent hospitalization including treatment in an intensive care unit was necessary. Therapy consisted of hemin arginate infusions, opiates and antiemetics. During one of these crisis, pregnancy was diagnosed. Although she continued to experience acute attacks, the initial course of pregnancy was uneventful and the fetus developed normally until week twenty. Subsequently, however, death of the fetus was diagnosed upon routine ultrasound check-up and curettage was performed in general anesthesia after cervical priming with prostaglandins. To date, only few reports about successful pregnancies in patients with acute porphyrias can be found. Additionally, there is little if any knowledge about the frequency of acute attacks and the appropriate treatment in such patients. Further, the rate of miscarriages in those patients is currently unknown. This case demonstrates that patients suffering from an acute porphyria like AIP confront gynecologists and general practitioners with challenging problems and emphasizes the need for close interdisciplinary collaboration in specialized centers.