Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

Abstract

Background Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is limited information on the “real world” management of VHL disease. Methods A national audit of VHL disease in the United Kingdom. Results VHL disease was managed mostly via specialist clinics coordinated through regional clinical genetics services (but frequently involving additional specialties). Over the study period, 19 genetic centres saw 842 individuals (393 males, 449 females) with a clinical and/or molecular diagnosis of VHL disease and 74 individuals (35 male, 39 female) with a prior risk of 50% (affected parent). All centres offered retinal, central nervous system and abdominal surveillance to affected individuals and at-risk relatives though surveillance details differed between centres (but complied with international recommendations). Renal lesions detected on the first surveillance scan were, on average, larger than those detected during subsequent scans and the larger the diameter at detection the greater the likelihood of early intervention. Conclusions In a state-funded health care system individuals with a rare inherited cancer predisposition syndrome are generally able to access appropriate surveillance and patient management is improved compared to historical data. The “real world” data from this study will inform the future development of VHL management protocols.

The road to systemic therapy in von Hippel-Lindau (VHL) disease: Are we there yet?

“…Globally, there is little information available on access to appropriate surveillance outside of centres with a research interest in VHL disease. In the UK, there are no centrally commissioned VHL services although majority of care is via speciality clinics coordinated through medical genetics services [43].…”

The Clinical and Molecular Features in the VHL Renal Cancers; Close or Distant Relatives with Sporadic Clear Cell Renal Cell Carcinoma?

“…VHL disease predisposes to the development of renal cysts and ccRCCs, and a single individual can present with multiple lesions [ 82 ]. A nationwide audit reported a median of 2–3 RCCs per individual [ 83 , 84 ]. In renal cysts, foci of dysplasia or RCC can be present, especially in complex cysts [ 82 , 84 ].…”

“…A national audit of VHL disease showed that MRI was the most common detection modality, followed by CT and ultrasonography, especially for bigger lesions [ 83 ]. MRI is better at detecting small renal masses than ultrasonography [ 83 ] and, although its sensitivity is inferior to that of abdominal CT, its use is preferred in screening protocols to spare patients from cumulative exposure due to ionizing radiations starting at a young age [ 83 , 99 ].…”

“…In a UK national audit of VHL disease, reporting real-world data, clinical outcome was reported for 229 patients with RCC, of whom 22.2%, 58.5%, and 19.3% underwent clinical monitoring, surgery, and RFA or CB, respectively. Over a 5-year period, only 1.8% of patients had subsequent end-stage kidney disease (mean age 40.5 years), and 46.6% underwent kidney transplantation (mean age 37.3 years) [ 83 ].…”