What are the management and surveillance recommendations for Birt-Hogg-Dube syndrome?

From the Guidelines

Management and surveillance for Birt-Hogg-Dubé syndrome (BHD) should prioritize monitoring for renal tumors, pulmonary cysts, and skin lesions, with a focus on early detection and intervention to minimize morbidity and mortality. The approach to BHD should be multifaceted, considering the syndrome's three main manifestations. For renal surveillance, abdominal MRI or CT should be performed at diagnosis and then at regular intervals, with the frequency determined by the presence and size of renal tumors 1. Key aspects of management include:

• Baseline chest CT to assess pulmonary cysts and inform pneumothorax risk management
• Avoidance of activities with significant pressure changes, such as scuba diving or air travel in unpressurized aircraft, for patients with pulmonary cysts
• Renal tumor management with nephron-sparing approaches when tumors reach 3 cm in diameter
• Genetic counseling for patients and family members due to the autosomal dominant inheritance pattern of BHD
• Dermatologic examinations annually, with treatment of fibrofolliculomas and trichodiscomas as needed for cosmetic concerns Given the potential for malignancy, particularly in renal tumors, regular surveillance with imaging studies like MRI or CT is crucial, allowing for early detection and intervention to improve outcomes 1. It's also important to consider the psychological impact of living with a genetic syndrome and the importance of supportive care and counseling throughout the management process.

From the Research

Management and Surveillance Recommendations for Birt-Hogg-Dube Syndrome

The following are key points to consider for the management and surveillance of Birt-Hogg-Dube syndrome:

• Patients with Birt-Hogg-Dube syndrome are at risk for multiple renal tumors that are often malignant and can metastasize 2.
• Surveillance is recommended, but the optimal imaging method and screening interval remain to be defined 3.
• Annual abdominal MR examination is recommended for patients with renal tumors <1 cm in diameter, while abdominal MR examination at every 6 months or ablation surgery is recommended for tumors 1-3 cm in diameter 4.
• Local excision of renal tumors with preservation of renal function is recommended for renal tumors >3 cm in diameter 4.
• Routine screenings of kidney cancer during their lifetime are recommended for patients with Birt-Hogg-Dube syndrome 4.
• Patients with Birt-Hogg-Dube syndrome should undergo chest CT scan to evaluate cystic lesions in the lungs, and routine evaluation of the kidneys for tumor foci, using ultrasound, enhanced CT, or MR as appropriate 4.
• Genetic testing for this syndrome is now available, and pedigree analysis of genetic testing of family members' samples can assist in the rapid identification of causative gene variants 4.

Key Considerations

• Birt-Hogg-Dube syndrome is a rare autosomal dominant disorder characterized by diffuse pulmonary cysts, cutaneous fibrofolliculomas or trichodiscomas, and a variety of renal cell cancers 4.
• Awareness of this syndrome is important in order to refer patients for genetic counseling and personalized follow-up as soon as possible 5.
• Patients with Birt-Hogg-Dube syndrome should avoid smoking, and are recommended to be vaccinated with influenza, pneumococcal, and SARS-Cov-2 vaccines to prevent infections 4.
• Air travel is not recommended for patients with Birt-Hogg-Dube syndrome who have experienced pneumothorax until it has been recovered 4.
• Early pleurodesis is recommended to reduce the risk of recurrence in patients with Birt-Hogg-Dube syndrome complicated by pneumothorax 4.

Diagnostic Criteria and Family Management

• The folliculin (FLCN) gene is currently the only affirmative causative gene for Birt-Hogg-Dube syndrome, and genetic testing methods can be chosen based on individual patient's care needs 4.
• Clinicians should establish a diagnosis based on the appropriate clinical presentation and in conjunction with genetic test results and/or a family history of Birt-Hogg-Dube syndrome 4.
• Family members of patients with Birt-Hogg-Dube syndrome should receive health education, and FLCN gene testing is recommended for asymptomatic adults to rule out Birt-Hogg-Dube syndrome in a timely manner 4.
• Couples with Birt-Hogg-Dube syndrome are advised to undergo prenatal genetic counseling when preparing for pregnancy, to work with a prenatal diagnostician to assess genetic risk, and to discuss the feasibility of prenatal diagnosis during pregnancy 4.