VHL: A rare and cyclical condition1–3

Explore cyst and tumor manifestations
commonly
associated with VHL disease.

  • Overview
  • Brain and Spinal Cord
  • Retina
  • Endolymphatic Sac
  • Kidneys
  • Pancreas
  • Adrenal Glands
  • Overview
  • Kidneys
  • Brain/Spinal Cord
  • Pancreas
  • Retina
  • Adrenal Glands
  • Endolymphatic Sac

VHL disease is a rare condition that can cause recurrent cyst and tumor growth over the course of a patient’s lifetime.1–4

VHL disease is a largely heritable
condition, with

Brain and Spinal Cord

Prevalence
  • Central nervous system (CNS) hemangioblastomas are the most common tumors in patients with VHL disease, affecting up to 80% of patients with VHL disease.4
Presentation
  • The average age of presentation is 33 years.4
Possible symptoms
  • Depending on where they appear, hemangioblastomas may cause
    headaches, vomiting, ataxia and gait
    disturbances, pain, sensory and motor loss,
    or severe defects including vision loss.2,4,5

Retina

Prevalence
  • Retinal hemangioblastomas occur in as many
    as 60% of patients with VHL disease.4
Presentation
  • Often the first manifestation of VHL disease.4
Possible symptoms
  • Severe visual deficits and blindness.2,4,5

Endolymphatic Sac

Prevalence
  • Endolymphatic sac tumors occur in approximately 15% of people with VHL disease.6
Presentation
  • Endolymphatic sac tumors present at an
    average age of 31 years.4
  • Often misdiagnosed as Meniere’s disease.6
Possible symptoms
  • Vestibular symptoms, partial/complete
    hearing loss, tinnitus, ear fullness,
    and/or facial paresis.2,4
Prognosis
  • While these tumors are benign and do
    not metastasize, they may be locally
    aggressive.4

Kidneys

Prevalence
  • As many as 70% of people with VHL disease develop clear cell renal cell carcinoma (RCC)
    by age 60.7
  • Multiple bilateral renal cysts are found on screening in 50% to 70% of patients with
    VHL disease    .4
Presentation
  • RCC or cysts present at an average age of
    39 years.4
Prognosis
  • RCC is a leading cause of death in patients
    with this manifestation of VHL disease.4

Pancreas

Prevalence
  • Pancreatic tumors or cysts occur in
    approximately 35%-70% of patients with
    VHL disease    .4
Presentation
  • Macroscopically, pancreatic neuroendocrine tumors (pNETs) are well distinguished,
    variegated red-brown to yellow-tan masses.8
  • Lesions are usually hypervascular, have a characteristic appearance on cross-sectional imaging, and may behave in a malignant
    manner and present with metastases.8
  • Compression of nearby structures by pancreatic cysts or pNETs can cause symptoms.4
Prognosis
  • Neuroendocrine tumors can become
    malignant and metastatic in 8% of these
    patients, but rarely contribute to morbidity
    and mortality.4

Adrenal Glands

Prevalence
  • Pheochromocytomas occur in up to
    20% of patients with VHL disease.4
Presentation
  • These tumors present at an average age of
    30 years.4
Possible symptoms
  • Paroxysmal or sustained hypertension, palpitations, tachycardia, headaches,
    sweating, pallor, and nausea.4,7
Prognosis
  • Pheochromocytomas are rarely malignant.4
Learn more about key clinical
characteristics of VHL disease
with Dr. Brian M. Shuch.

VHL = Von Hippel-Lindau.

Diagnose VHL in your practice

References: 1. US Food and Drug Administration. Rare Diseases at FDA. https://www.fda.gov/patients/rare-diseases-fda. Accessed September 7, 2022. 2. National Organization for Rare Disorders. Von Hippel-Lindau disease. https://rarediseases.org/rare-diseases/von-hippel-lindau-disease/. Accessed September 7, 2022. 3. Ploussard G, Droupy S, Ferlicot S, et al. Local recurrence after nephron-sparing surgery in von Hippel-Lindau disease. Urology. 2007;70(3):435–439. 4. Varshney N, Kebede AA, Owusu-Dapaah H, et al. A review of von Hippel-Lindau syndrome. J Kidney Cancer VHL. 2017;4(3):20–29. 5. van Leeuwaarde RS, Ahmad S, Links TP, et al. Von Hippel-Lindau Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; May 17, 2000. 6. VHL Alliance. Endolymphatic sac tumor (ELST). https://www.vhl.org/patients/what-is-vhl/types-and-manifestations/endolymphatic-sac-tumor-elst. Accessed September 7, 2022. 7. Chittiboina P, Lonser RR. Von Hippel–Lindau disease. Handb Clin Neurol. 2015;132:139–156. 8. Charlesworth M, Verbeke CS, Falk GA, et al. Pancreatic lesions in von Hippel-Lindau disease? A systematic review and meta-synthesis of the literature. J Gastrointest Surg. 2012;16(7):1422–1428.

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