Screenings for people with von Hippel-Lindau disease

The main guidance

The VHL Alliance set up an expert group, the International VHL Surveillance Guidelines Consortium, to write surveillance recommendations organ by organ. (CNS consensus, 2021) Its all-organ schedule was published in 2023; a 2025 review summarises it by organ and by the age checks start, and says the guidelines call for care by experienced multidisciplinary teams and genetic testing for people with VHL and their relatives at risk. (Consortium summary, 2025) Its eye guidelines were endorsed by the VHL Alliance and the International Society of Ocular Oncology. (Ocular guidelines, 2023) An updated Danish national guideline from 2022 says surveillance should start in childhood for people with, or at risk of, VHL and include regular checks of the retina, brain and spinal cord, inner ear, kidneys, hormone-producing glands and pancreas. (Danish guideline, 2022)

Checks the guidance lists for adults

This is the International Consortium schedule as summarised in the 2025 review, from age 15 onward. (Consortium summary, 2025)

Check	From 15 to 64	From 65
History and physical exam	Every year	Every year
Blood pressure and pulse	Every year	Every year
Eye exam	Every 6 to 12 months until 30, then every year	Every year
Metanephrine tests (blood or urine) for adrenal tumours	Every year	If indicated
Brain and spine MRI	Every 2 years	If indicated
Hearing test (audiogram)	Every 2 years	If indicated
Abdominal MRI or CT (kidneys and pancreas)	Every 2 years	If indicated
MRI of the inner ear canals	Once, between 15 and 20

Eye exams

The 2023 consensus guidelines on eye surveillance say people with known or suspected VHL should have eye screening that starts within 12 months after birth and continues for life: about every 6 to 12 months until age 30, then at least yearly. They say the frequency may depend on how good earlier exams were in young children, and that an eye exam is advised before a planned pregnancy and every 6 to 12 months during pregnancy. They advise care, where possible, by eye specialists with experience of VHL, ideally in a centre that can check all organs. (Ocular guidelines, 2023) See eye exam: what to expect.

Brain and spine MRI

The consensus statement on haemangioblastomas of the brain and spinal cord recommends a yearly clinical check as the main screening tool, a first MRI at age 11 (or earlier if symptoms or signs appear) and then an MRI every 2 years. It suggests screening between ages 11 and 65. (CNS consensus, 2021) In a UK national audit of 22 genetics centres, 62 percent of brain and spinal cord haemangioblastomas found during the study were picked up on a routine scan before they caused symptoms. (UK audit, 2022) Whole-body MRI is being studied as a way to scan the brain, spine and abdomen in one visit. (Consortium summary, 2025) See full-body MRI screening for why self-pay scans for people without a condition like this are a different thing.

Kidneys, pancreas and adrenal glands

The 2025 review says the consortium moved the start of abdominal imaging to age 15, with scans every 2 years, and yearly metanephrine tests from age 5 to look for adrenal tumours (pheochromocytomas). (Consortium summary, 2025) MedlinePlus Genetics says these adrenal tumours may cause no symptoms but can cause headaches, sweating or very high blood pressure. (MedlinePlus Genetics) In the UK audit, the protocol used as the standard was abdominal MRI or ultrasound every 12 months from age 16, with yearly blood pressure and urine tests. Kidney growths found on the first scan were larger on average than those found on later scans, and centres that did abdominal MRI at least every 2 years found more pancreatic tumours (6.1 against 2.6 per 100 patients) than centres scanning less often or using ultrasound only. (UK audit, 2022) See blood pressure readings: what they mean.

Hearing

MedlinePlus Genetics says about 10 percent of people with VHL develop tumours of the inner ear (endolymphatic sac tumours), which can cause hearing loss, ringing in the ears and balance problems. (MedlinePlus Genetics) The consortium schedule lists a hearing test every 2 years from age 11 and one MRI of the inner ear canals between 15 and 20; later checks can often be read from the routine brain MRI. (Consortium summary, 2025) See hearing test: what to expect.

Children

Children have their own schedule: a yearly check-up from age 1, blood pressure and pulse from age 2, eye exams from the first year, and metanephrine tests from age 5. (Consortium summary, 2025) The care team for the child sets the plan.

Checks for relatives

MedlinePlus Genetics says VHL is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough to raise the risk; in about 20 percent of cases the gene change is new rather than inherited. (MedlinePlus Genetics) The eye guidelines say people at risk, including first-degree relatives of someone with VHL, should have genetic testing for the gene change. (Ocular guidelines, 2023) The UK audit says testing is offered from early childhood, relatives who test negative are released from yearly surveillance, and relatives at 50 percent risk who have not been tested were screened like people with VHL until a set age, which varied between centres from 40 to 65. (UK audit, 2022) See family history and screening and how to collect your family health history.

Routine age-based screening

VHL checks are added to, not instead of, the routine screenings for your age and sex; see screenings by age and gender.

Where they differ:

Abdominal scans. The consortium schedule says every 2 years from 15, (Consortium summary, 2025) while the protocol used as the UK audit standard says every 12 months from 16, by MRI or ultrasound. (UK audit, 2022)
Brain and spine MRI. The consortium says every 2 years from 11, (CNS consensus, 2021) while the UK standard says every 12 to 36 months from adolescence; most UK centres that scanned regularly did so every 3 years, and some did only one baseline scan. (UK audit, 2022)
Eye exams. The consortium says every 6 to 12 months until 30, starting in the first year of life, (Ocular guidelines, 2023) while the UK standard says yearly from infancy or early childhood, and most UK centres started at age 5. (UK audit, 2022)
When checks stop. The consortium continues most scans and tests to 65 and then only if indicated, (Consortium summary, 2025) while UK centres stopped screening untested relatives with no signs of VHL at ages from 40 to 65 (median 50). (UK audit, 2022)

Your doctor decides what your result means for you.

Questions people ask

What checks do adults with von Hippel-Lindau disease have?

The International VHL Surveillance Guidelines Consortium schedule, as summarised in a 2025 review, lists a yearly check-up with blood pressure and pulse, an eye exam every 6 to 12 months until 30 and then yearly, yearly metanephrine tests, a brain and spine MRI every 2 years, a hearing test every 2 years, and an abdominal MRI every 2 years from age 15. From 65, most scans and tests are done only if indicated. (Consortium summary, 2025)

How often is the eye exam?

The 2023 consensus guidelines on eye surveillance say eye screening should start within 12 months after birth and continue for life, about every 6 to 12 months until age 30 and then at least yearly. They also advise an eye exam before a planned pregnancy and every 6 to 12 months during pregnancy. (Ocular guidelines, 2023)

When does brain and spine MRI start?

The consensus statement on brain and spinal cord tumours recommends a first MRI at age 11, or earlier if nervous system symptoms appear, then every 2 years. It suggests screening between ages 11 and 65 and a yearly clinical check as the main screening tool. (CNS consensus, 2021)

Should relatives be tested?

The 2023 eye guidelines say people at risk, including first-degree relatives of someone with VHL, should have genetic testing for the family gene change. A UK audit notes that relatives who test negative are released from yearly surveillance. (Ocular guidelines, 2023) (UK audit, 2022)

Is VHL screening part of routine age-based screening?

No. These checks are for people with VHL or at risk of it, and are usually arranged by a specialist team. The routine screenings for your age and sex still apply. (Consortium summary, 2025)