Management of Anesthesia in a Patient With Birt-Hogg-Dubé Syndrome: A Rare Hereditary Syndrome Characterized by Pneumothoraces and Neoplasms

Abstract

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant syndrome, characterized by hair follicle hamartomas, basal lung cysts, which can lead to recurrent spontaneous pneumothorax and 12-34% lifetime risk of developing renal tumours (1). Besides renal tumours, there is an increased incidence of other tumours, such as lung cancer, thyroid cancer, parathyroid adenoma, breast cancer, lipoma, melanoma, parotid oncocytoma and probably colon cancer. We could not find any report of a patient with BDHS and prostate cancer. We present a patient with BHDS, who was diagnosed prostate cancer, and underwent radical prostatectomy. Case: A 65 year old patient with a previous history of BHDS who had a spontaneous pneumothorax 15 years ago. Family history of pneumothorax and lung cancer led to genetic screening and a pathogenic mutation in the FLCN gene was identified. The patient was smoking 15 cigarettes a day and had pulmonary cysts and fibrous bands on chest X-Ray. The patient was using formoterol fumarate dihydrate, budesonide, ipratropium, albuterol, and glycopyrronium for chronic obstructive pulmonary disease (COPD). The patient had lower urinary tract symptoms, and prostate biopsy revealed prostatic cancer. Spirometry results were poor and combined spinal and epidural anaesthesia with moderate sedation was preferred for radical prostatectomy in order to avoid possible pulmonary complications. Discussion: BHDS isa rare hereditary syndrome which exhibits autosomal dominant inheritance. There are 663 families described in literature with BHDS (2). There is variability in the clinical presentation of this disorder thus, it can be under diagnosed. Diagnosis has significant implications for the patient and the extended family. Conclusion: BHDS usually presents pulmonary cysts/pneumothoraces, and renal tumours. Appropriate anaesthetic management is crucial in preventing pulmonary complications. The identification of BHDS is of importance in recognition and follow-up of malignancies consistent with the syndrome in the family. © 2023 Anestezi Dergisi. All rights reserved.