Family members of VHL: Evaluation & Follow up?

Dr Sumit Gahlawat

Narayana Super-Speciality Hospital, Gurugram

Which family members - All first degree relatives regardless of age. VHL is inherited in an autosomal Dominant manner. 80% patients have affected parent.

What evaluation -

+ History and review of all medical records available (Figure 1), document in pedigree form.

+ Clinical and radio-logic evaluation - fundoscopy, tonometry and audiological evaluation is required. MR of the brain and spinal cord for CNS lesions. Abdomen CECT for detection of renal, adrenal and pancreatic lesions.

+ Genetic testing from blood sample - If VHL patient have known pathogenic variant gene, then do specific gene testing in the family members. There will be no need for surveillance in members who have not inherited the variant. Affected family members require surveillance.

How to perform surveillance - 

+ Lifelong surveillance is required

+ The recommendations apply for organs in which the individual does not have any manifestations (Table 1). Once an organ is affected, a specific follow-up program for that organ should be composed. 

Figure 2: Organs affected in VHL

Table 1: Surveillance protocol for family members of patients with VHL

Surveillance Modality	<5 Years	Beginning at 5 Years	Beginning at 11 Years	Beginning at 15 Years	Beginning at 30 Years	Beginning at 65 Years
History and Physical Examination	Yearly from Age 1 Year	Yearly	Yearly	Yearly	Yearly	Yearly
Blood Pressure and Pulse (Pheochromocytomas/ Paragangliomas)	Yearly from Age 2 Year	Yearly	Yearly	Yearly	Yearly	Yearly
Dilated Eye Examination (Retinal Hemangioblastomas)	Every 6-12 Months	Every 6-12 Months	Every 6-12 Months	Every 6-12 Months	Yearly	Yearly
Metanephrines (Pheochromocytomas/ Paragangliomas)	-	Yearly	Yearly	Yearly	Yearly	Stop Routine
MRI Brain and Spine w/wo Contrast (CNS Hemangioblastomas)	-	-	Every 2 Years	Every 2 Years	Every 2 Years	Stop Routine
Audiogram (Endolymphatic sac tumors)	-	-	Every 2 Years	Every 2 Years	Every 2 Years	Stop Routine
MRI Abdomen w/wo Contrast (Renal cell Carcinomas, Pheochromocytomas/ Paragangliomas, Pancreatic neuroendocrine tumors/cysts)	-	-	-	Every 2 Years	Every 2 Years	Stop Routine
MRI Internal Auditory Canal (Endolymphatic sac tumors)	-	-	-	Once	-	-