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- Title
The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.
- Authors
Torricelli, Elena; Occhipinti, Mariaelena; Cavigli, Edoardo; Tancredi, Giorgia; Rosi, Elisabetta; Rossi, Cesare; Bonaguro, Michela; Candita, Luisa; Papi, Laura; Novelli, Luca; Bezzi, Michela; Bargagli, Elena; Voltolini, Luca; Pistolesi, Massimo
- Abstract
Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant inherited disorder characterized by inactivation of the gene Folliculin (FLCN), pulmonary cysts with recurrent spontaneous pneumothorax, dermatological lesions, and an increased risk of developing renal malignancies. Objectives: We aimed to investigate the real prevalence of BHDS and its prevalence among patients with a familial history of pneumothorax. Methods: From July 2014 to December 2016, we consecutively studied all patients with spontaneous pneumothorax and a positive family history for the same condition referring to our Institution. The suspicious cases underwent genetic analysis of the BHDS-causative gene FLCN. FLCN-positive cases were further evaluated with routine blood tests, chest radiography, chest CT, abdominal MRI, and dermatological evaluation. Results: Among 114 patients admitted with spontaneous pneumothorax, 7 patients had a family history of pneumothorax, and 6/7 (85.7%) patients had positive genetic test for FLCN as well as 7/13 family members. Pulmonary cysts were found in all patients with a FLCN-positive genetic test. Most patients (10/13, 76.9%) had tiny pulmonary cysts less than 1 cm in diameter. The vast majority of cysts were intraparenchymal (12/13, 92.3%) and located in lower lobes. Dermatological lesions were found in 7/13 (54%) patients, renal cysts in 4/13 (31%) patients, and renal cancer in 1 (1/13, 7.7%) patient. Conclusions: Although BHDS is considered a rare disease, BHDS underlies spontaneous pneumothorax more often than usually believed, especially whenever a family history of pneumothorax is present. Diagnosis of BHDS is essential to start monitoring patients for the risk of developing renal malignancies.
- Subjects
MEDICAL history taking; PNEUMOTHORAX; RARE diseases; RISK assessment; GENETIC testing; FAMILY history (Medicine); BIRT-Hogg-Dube syndrome
- Publication
Respiration, 2019, Vol 98, Issue 2, p125
- ISSN
0025-7931
- Publication type
Article
- DOI
10.1159/000498973