Von Hippel-Lindau Disease

VHL Disease Types of Tumors

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Von Hippel-Lindau (VHL) Disease Types of Tumors / Manifestations

The specific types of tumors caused by VHL include the following:

Below is information about the prevalence, presentation, symptoms, and management of various VHL disease manifestation by organ sites.

Brain and Spinal Cord

Prevalence

Central nervous system (CNS) hemangioblastomas (vascular tumors) are the most common brain and spinal cord tumors in patients with VHL disease, affecting up to 80% of patients.

Presentation

The average age of presentation is around 30 years old.

Possible symptoms

Symptoms depend on the location of the tumor. Hemangioblastomas frequently cause headaches, vomiting, poor muscle control and walking abnormally, pain, and sensory and motor loss.

Management

Many asymptomatic lesions can be observed. With symptoms, challenging locations, or with rapid growth, these may choose to be surgically removed. Occasionally embolization is used first for vascular lesions. For poor surgical candidates we have used stereotactic radiation therapy. Belzutifan, an oral medication, is emerging as an option to stabilize or shrink disease.

Retina

Prevalence

Retinal hemangioblastomas occur in up to 50-60% of patients with VHL disease.

Presentation

It is often the first manifestation of VHL disease since it frequently begins in childhood.

Possible symptoms

Severe visual deficits and blindness are possible.

Management

Many asymptomatic lesions can be observed. Management is determined based on the size, growth rate, swelling, and location of the lesion.  Various management options are available including laser treatment, photodynamic therapy, and vitrectomy. Systemic and local therapy have been applied with some success.

Endolymphatic Sac Tumors (ELST)

Prevalence

Endolymphatic sac tumors occur in 10-15% VHL patients.

Presentation

Endolymphatic sac tumors present around the age of 30. Screening for these tumors can be challenging.

Possible symptoms

One sided vestibular symptoms can include partial or complete hearing loss, tinnitus, and ear fullness.

Management

Because audio-vestibular compromise can be irreversible and isn’t dependent on tumor size, most centers advocate for early surgical intervention. When tumors are large, pre-operative embolization has been described.

Renal Tumors and Cysts

Prevalence

60- 70% of people with VHL disease develop clear cell renal cell carcinoma, a type of kidney cancer. Renal cysts are present in over 50% of patients.

Presentation

The median age for presentation is in the 30-40’s. Patients generally have tumors in multiple locations within the kidney, often on both sides.

Possible symptoms

Small tumors do not cause pain. However, large tumors can cause flank pain, blood in the urine and an abdominal mass are possible. Renal cell carcinoma can spread to any organ.

Management

Renal cysts can be observed and rarely cause issues but can become solid unlike many sporadic cysts. Renal tumors are placed under active surveillance until a lesion hits 3 cm in size (solid component), at which time surgery is performed on that organ to remove all lesions and spare the kidney. Percutaneous treatments are considered for solitary lesions.  Belzitufan, an oral medication, is emerging an option for select patients.

Pancreatic Tumors and Cysts

Prevalence

Pancreatic neuroendocrine tumors (pNET) occur in 15-20% of patients while cysts occur in 50-60% of patients with VHL disease.

Presentation

Pancreatic tumors occur at a median age of 30 and can have malignant behavior (can spread to other organs).

Possible symptoms

While these tumors are often asymptomatic, when large they can compress nearby organs and cause localized symptoms.

Management

Pancreatic cysts can be observed and rarely need to be drained. Cystadenomas are benign and are also observed unless they cause symptoms. Microcystic adenomas may be mistaken for pancreatic neuroendocrine tumors (pNET) and may need imaging or biopsy. pNETs are observed up to a certain size threshold (depending on the location) until they must be removed. Belzitufan, an oral medication, is emerging an option for select patients.

Adrenal Tumors

Prevalence

Pheochromocytomas (usually noncancerous tumors) occur in up to 20% of patients with VHL disease.  Up to 5% of patients can get similar tumors outside the adrenal gland called paragangliomas (previously named extra-adrenal pheochromocytomas).

Presentation

These tumors present at an average age of 30 years but can present in childhood.

Possible symptoms

Paroxysmal or sustained hypertension (high blood pressure), palpitations, tachycardia (rapid heart rate over 100 beats per minute), headaches, sweating, pallor (pale appearance), and nausea. Pheochromocytomas can have malignant behavior and spread to other organs.

Management

Pheochromocytomas can present without symptoms when small. If asymptomatic, surveillance has been described. Endocrine blockage must be done before surgical procedures or childbirth. Surgery is recommended with growth or symptoms with partial adrenalectomy (when feasible) or total adrenalectomy.

Reproductive Lesions

Prevalence

Epididymal cystadenomas (noncancerous tumors) occur in up to 50% of men. Broad ligament cystadenomas are infrequent in women with unknown incidence.

Presentation

Cystadenomas of the epididymis may begin during teenage years. Broad ligament cystadenomas appear in women age 20-40.

Possible symptoms

Cystadenomas of the epididymis are often asymptomatic but can cause pain and pressure in the scrotum.  Broad ligament cystadenomas are often asymptomatic but can cause pain and pressure in the pelvis.

Management

Cystadenomas are treated conservatively and rarely are removed as treatment could obstruct sperm flow. Broad ligament cystadenomas are rare, so the optimal management is currently unclear. While they can become large, cystadenomas are fairly slow growing and therefore they are often observed in young women of child-bearing potential.

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