Journal of Rare Disorders: Diagnosis & Therapy

Vascular Complications of Neurofibromatosis Type 1-A Case Report and Literature Review with Special Emphasis on Pregnancy

Vascular involvement in Neurofibromatosis type 1 (NF1) may result in major hemorrhage due to the rupture of an affected vessel or during surgery for neurofibromas. Pregnancy in women with NF1 is characterized by disease specific and obstetric complications. These include an increase in number and size of neurofibromas, preeclampsia, placental abruption, fetal growth restriction, and preterm birth.

We present the case of a pregnant patient with NF1 who suffered a perioperative rupture of the left common iliac artery during her third cesarean section. To further investigate hemorrhagic complications in patients with NF1, and during pregnancy in particular, we performed a literature search. PubMed database was used covering the time between inception and October 2021. In all, 154 cases were included. With the exception of six these were single case reports. 143 non-obstetric cases were described (77 women (53%), 66 men (46%)). Median age was 45 years (IQR 36-53). Affected vessels were predominantly from the trunk (n=96, 67%), followed by head and neck (n=34, 24%) and limbs (n=13, 9%). Overall mortality was 21.6%, without difference between sex and location.

Reports of 11 pregnant or postpartum women were found. All antepartum incidents (n=4) occurred during the third trimester, and postpartum cases (n=7) within two weeks after delivery; three women (27.3%) died. Perinatal survival of cases with vessel ruptures during pregnancy was not reported (n=1), intrauterine fetal death (n=1), and survival (n=2) with poor and non-reported Apgar score, respectively.

Overall, 61 reports (39%) included histopathological findings. Elastin fragmentation, changes of the vessel wall structure, neurofibroma, or positive results for S-100 protein was commonly reported. Vessel ruptures in patients with NF1 are rare; the 21.6% mortality rate may be an underestimation. Female sex and the reproductive phase are overrepresented. The adverse association between pregnancy and NF1 may be attributable to the hormonal changes and the hyperdynamic cardiovascular state of pregnancy. Until now, screening and preventive measures of vascular complications in NF1 are not available. A high level of suspicion, immediate attention of a multidisciplinary team, with availability of large amounts of blood products are a prerequisite of successful treatment.

Abbreviations: IQR; Interquartile range; N number; NF1, Neurofibromatosis type 1

Author(s): Ruben Ploger*, Ulrich Gembruch, Waltraut M Merz, Sylvia LohfinkSchumm, Glen Kristiansen, Alexander Kania and Frauke Verrel

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