Risk of pneumothorax in Birt-Hogg-Dubé syndrome during pregnancy and birth

Ortrud K Steinlein; Marlene Reithmair; Zulfiya Syunyaeva; Elke C Sattler

doi:10.3389/fmed.2023.1289948

Risk of pneumothorax in Birt-Hogg-Dubé syndrome during pregnancy and birth

Front Med (Lausanne). 2023 Nov 8:10:1289948. doi: 10.3389/fmed.2023.1289948. eCollection 2023.

Authors

Ortrud K Steinlein¹, Marlene Reithmair¹, Zulfiya Syunyaeva^{2

3}, Elke C Sattler⁴

Affiliations

¹ Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany.
² Department of Medicine V, University Hospital, LMU Munich, University of Munich, Munich, Germany.
³ Department of Pediatric Pulmonology, Immunology and Critical Care Medicine, Cystic Fibrosis Center, Charite -Universitätsmedizin Berlin, Berlin, Germany.
⁴ Department of Dermatology and Allergy, University Hospital, LMU Munich, Munich, Germany.

Abstract

Birt-Hogg-Dubé syndrome (BHDS) is a genetic disorder characterized by fibrofolliculomas, renal cell cancer and lung cysts. Patients are at risk to develop pneumothorax but the magnitude of this risk during pregnancy is unknown. Information was obtained from 46 women with BHDS that had at least one pregnancy (BHDS-with preg), 18 female BHDS relatives without pregnancies (BHDS-no preg) and 25 non-BHDS female relatives with at least one pregnancy (noBHDS-with preg). In total, 77 pneumothoraces occurred in the BHDS-with preg group (mean 1.7/patient) and 11 in the BHDS-no preg group. Comparison of patient years for the first two groups showed pneumothorax incidence rates of 0.054 and 0.016, respectively. The incidence rate difference was significant [0.038 (CI 0.02-0.057), value of p-value 0.0001]. This difference is not caused by an increased number of patients with pneumothorax but by an increased number of pneumothoraces per patient. Pregnancy in BHDS therefore might be a risk factor for multiple pneumothoraces.

Keywords: Birt-Hogg-Dubè syndrome; FLCN; birth; pneumothorax; pregnancy.

Grants and funding

The author(s) declare that no financial support was received for the research, authorship, and/or publication of this article.