From the Research
Patients with Birt-Hogg-Dubé syndrome should undergo renal cancer screening with abdominal MRI every 1-2 years, beginning at age 20, as recommended by the most recent expert consensus 1. The screening frequency may be adjusted based on individual risk factors, family history, and previous imaging findings. For those who cannot tolerate MRI, CT scans without contrast can be used as an alternative, though this involves radiation exposure. Ultrasound is generally not recommended as the primary screening method due to lower sensitivity for detecting small renal tumors. More frequent screening (annually) is typically recommended for patients who have already developed renal tumors or have a strong family history of aggressive kidney cancer. This regular screening is crucial because individuals with Birt-Hogg-Dubé syndrome have a significantly increased lifetime risk (approximately 15-30%) of developing renal tumors, particularly chromophobe renal cell carcinoma and hybrid oncocytic tumors. Early detection through consistent screening allows for timely intervention when tumors reach 3-4 cm, helping to preserve kidney function while preventing metastatic disease. The importance of regular screening is further emphasized by studies showing that compliance to renal screening is relatively high and that ultrasound might be a sensitive alternative for detecting clinically relevant renal tumors in BHD patients, although with limitations 2. Additionally, a multidisciplinary approach to hereditary renal cancer predisposing syndromes, including Birt-Hogg-Dubé syndrome, has been shown to be effective in identifying incidental renal lesions and managing patients 3. However, the most recent and highest quality study 1 provides the most up-to-date recommendations for renal cancer screening in patients with Birt-Hogg-Dubé syndrome. Some key points to consider in the screening process include:
- The use of abdominal MRI as the primary screening method
- The adjustment of screening frequency based on individual risk factors and family history
- The importance of early detection and timely intervention to preserve kidney function and prevent metastatic disease
- The consideration of a multidisciplinary approach to patient management
- The need for ongoing surveillance and monitoring of patients with Birt-Hogg-Dubé syndrome.