Role of Radiologists in the Diagnosis of Unsuspected Birt-Hogg-Dubé Syndrome in a Tertiary Clinical Practice

• Published in: American journal of roentgenology (1976) Vol. 213; no. 4; pp. 792 - 797
• Main Authors: Lee, Elizabeth, Sayyouh, Mohamed, Haggerty, Jay Ezra, Kazerooni, Ella, Agarwal, Prachi P
• Format: Journal Article
• Language: English
• Published: United States 01-10-2019
• Subjects: Adult; Aged; Aged, 80 and over; Birt-Hogg-Dube Syndrome - diagnostic imaging; Diagnosis, Differential; Female; Humans; Male; Middle Aged; Physician's Role; Radiologists; Retrospective Studies; pulmonary cysts; renal cell carcinoma; Birt-Hogg-Dubé syndrome
• ISSN: 0361-803X; 1546-3141
• DOI: 10.2214/AJR.19.21176

Birt-Hogg-Dubé (BHD) syndrome is considered rare. Growing evidence indicates that it is underdiagnosed. The purpose of this study is to ascertain the impact of radiology reports that suggest the possibility of BHD syndrome on downstream management and a final diagnosis of BHD syndrome.
In this retrospective study, electronic medical records were searched to identify radiology reports suggesting the possibility of BHD syndrome in patients without a known or suspected diagnosis. Clinical and demographic information, the specialty of the ordering clinician, and imaging findings and confidence conveyed in the radiology report (with BHD syndrome listed as the most likely diagnosis versus one among several possibilities but not as the leading diagnosis) were recorded. The resultant downstream evaluations that were captured included referral for genetic evaluation and subsequent diagnosis of BHD.
Between 2004 and 2016, radiologists suggested a diagnosis of BHD syndrome in 87 patients. Of these patients, 15% (13/87) underwent genetic evaluation, and 54% of those patients (7/13) had positive findings. Genetic evaluation was more likely for patients with a history of pneumothorax (
= 0.004) or involvement of the lungs and kidneys (
= 0.003). The urology department referred the highest percentage of patients (31% [4/13]) for genetic evaluation.
Radiologists have a unique opportunity to suggest BHD syndrome, allowing appropriate genetic testing, screening, and counseling of patients and their families. Clinical presentation, including a history of pneumothorax and involvement of both the lungs and kidneys on imaging, may determine which patients are ultimately referred for genetic evaluation. We hope that increasing awareness that BHD syndrome is not so rare may lead to early diagnosis.