HELLP Syndrome and Preeclampsia in Patient with Neurofibromatosis Type 1 - Case Report

Background: HELLP syndrome is a rare condition that affects 0.17-0.9% of pregnant women. Most cases are related to preeclampsia. Their pathogenesis is unclear, but chronic systemic diseases and genetic disorders such as neurofibromatosis type 1 (von Recklinghausen's disease) may be contributory factors. Case Description: A 33-year-old woman was admitted to the clinic in the 17th week of pregnancy with suspected intrauterine growth restriction (IUGR) and signs of pregnancy-induced hypertension (PIH) but without significant proteinuria. The patient suffered from genetic Recklinghausen's disease. Her past obstetric history included two premature pregnancies, HELLP syndrome, gestational hypertension, IUGR in all previous pregnancies and postnatal infant deaths. During the current pregnancy, PAPP-A test and amniocentesis were performed. Their results excluded genetic diseases in the fetus. A thorough cardiological examination was performed, intensive antihypertensive treatment started, and agents such as pravastatin, encortone, neoparin and acetylsalicylic acid were administered. Despite the above therapy, severe inhibition of fetal intrauterine growth was observed. In week twenty-nine of pregnancy, prenatal steroid therapy was used to enhance maturation of the fetus. Several days later, the patient developed fully symptomatic HELLP syndrome and it was decided to perform an emergency cesarean section. A baby girl with a body weight of 330 g was delivered through CS. Intensive neonatal therapy was given, but the child died on the seventh day of life due to pneumothorax complications. In the postpartum period, the patient's blood pressure and hepatic parameters returned to normal. Conclusion: Women with preeclampsia and HELLP syndrome typically have worse outcomes than preeclamptic women without HELLP, which is why pregnancy and childbirth are a major challenge for the former. In both disorders, the vascular system is compromised; vasculopathies are also present in von Recklinghausen's disease. Thus, all three conditions are characterized by vascular complications.