Von Hippel-Lindau Disease

An autosomal dominant hereditary syndrome with multiple benign and malignant tumors.

Written by: Saygı Hospital Health Guide Editorial Board

Last updated: June 10, 2026

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Von Hippel-Lindau Disease?

Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited syndrome caused by mutations in the VHL tumor suppressor gene. It shows variable expressivity and high penetrance, with multiple benign and malignant tumors developing in different organs.

The most frequent tumors are retinal and central nervous system hemangioblastomas, clear cell renal cell carcinoma, pancreatic neuroendocrine tumors, pheochromocytoma/paraganglioma, and endolymphatic sac tumors.

Early diagnosis and lifelong regular multidisciplinary screening are critical to reducing morbidity and mortality.

Symptoms

Visual disturbance (retinal hemangioblastoma)

Headache, balance disturbance (cerebellar involvement)

Hematuria (kidney cancer)

Episodic headache, palpitations (pheochromocytoma)

Hearing loss (endolymphatic sac tumor)

Abdominal pain (pancreatic cyst/tumor)

Epididymal cysts

Risk Factors

Family history of VHL (autosomal dominant)

VHL gene mutation

Hemangioblastoma at a young age

Family history of clear cell renal cell carcinoma

Bilateral or multifocal tumors

Pheochromocytoma and paraganglioma

Recurrent fundus abnormalities

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

Genetic screening with a family history of VHL
Clear cell renal cell carcinoma at a young age
Unexplained vision or balance problems
When pheochromocytoma or paraganglioma is detected
Simultaneous tumors in more than one organ

Treatment Methods

Multidisciplinary annual screening (eye, MRI, urinary system)

Surgical resection or radiosurgery for hemangioblastomas

Nephron-sparing surgery in renal cell carcinoma

α-blockade followed by surgery for pheochromocytoma

Newer targeted therapy: belzutifan (HIF-2α inhibitor)

Genetic counseling and family screening

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Endokrinoloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Book Appointment Contact Us

Related Health Topics

Other articles from the same department you may want to explore.

Anaemia

Dahiliye (İç Hastalıkları)

Anaemia is a low haemoglobin level that reduces oxygen delivery, causing fatigue, pallor, and shortness of breath. It is not a disease itself but a sign of many underlying conditions. Most cases are correctable with appropriate diagnosis and treatment.

Iron Deficiency Anaemia

Dahiliye (İç Hastalıkları)

Iron deficiency anaemia develops when dietary intake, absorption, or losses create an iron shortfall, most often affecting women and children. Identifying the underlying cause is the core of management, alongside iron replacement.

Vitamin B12 Deficiency

Dahiliye (İç Hastalıkları)

Vitamin B12 deficiency can cause megaloblastic anaemia, neurological symptoms, and cognitive impairment. Early treatment with intramuscular or oral B12 largely prevents irreversible complications.

Hypertension (High Blood Pressure) Management

Dahiliye (İç Hastalıkları)

Hypertension is often called the silent killer because it progresses symptom-free for years and can damage the heart, brain, kidneys, and eyes. Regular monitoring, lifestyle change, and evidence-based drug therapy dramatically reduce cardiovascular risk.

Chronic Kidney Disease

Dahiliye (İç Hastalıkları)

Chronic kidney disease is one of the most common complications of chronic conditions such as diabetes and hypertension, and can be silent in its early stages.

Hepatitis B (HBV)

Dahiliye (İç Hastalıkları)

Hepatitis B is a DNA virus infection causing acute and chronic hepatitis with risk of cirrhosis and hepatocellular carcinoma; diagnosis integrates HBsAg, HBeAg, anti-HBc, and HBV DNA with management based on disease phase using nucleos(t)ide analogues (entecavir, tenofovir) and universal infant vaccination.

Hepatitis C (HCV)

Dahiliye (İç Hastalıkları)

Hepatitis C is an RNA virus causing chronic hepatitis that may progress to cirrhosis and hepatocellular carcinoma; modern direct-acting antiviral (DAA) pangenotypic regimens (sofosbuvir/velpatasvir, glecaprevir/pibrentasvir) achieve sustained virologic response over 95% in 8–12 weeks with universal adult screening and cure for nearly all patients.

Fatty Liver Disease

Dahiliye (İç Hastalıkları)

Non-alcoholic fatty liver disease (NAFLD) is closely related to obesity and metabolic syndrome and is largely reversible with early treatment.

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.