Format

Send to

Choose Destination
Respiration. 2019 Jul 2:1-8. doi: 10.1159/000498973. [Epub ahead of print]

The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.

Author information

1
Section of Respiratory Medicine, Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy, elenatorricelli83@gmail.com.
2
Section of Respiratory Medicine, Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy.
3
Section of Radiodiagnostics, Department of Services, Careggi University Hospital, Florence, Italy.
4
Section of Thoracic Surgery, Department of Surgery, University of Florence, Florence, Italy.
5
Section of Medical Genetics, Sant'Orsola-Malpighi Hospital, Bologna, Italy.
6
Section of Medical Genetics, Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
7
Section of Histopathology and Molecular Pathology, University of Florence, Florence, Italy.
8
Division of Interventional Pulmonology, Careggi University Hospital, Florence, Italy.

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.

KEYWORDS:

Birt-Hogg-Dubé syndrome; Computed tomography; Cysts; FLCN protein; Pneumothorax; Prevalence; Radiography; Rare diseases

PMID:
31266032
DOI:
10.1159/000498973

Supplemental Content

Full text links

Icon for S. Karger AG, Basel, Switzerland
Loading ...
Support Center