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von Hippel–Lindau Disease
Name of disease:
von Hippel–Lindau (VHL) Disease
ICD-10 diagnosis code:
Q85.831
Causes:
VHL disease is an autosomal-dominant disease characterized by an increased risk of tumors and cysts in certain organs caused by mutations in the VHL gene on chromosome 3.
Pattern of inheritance:
If one parent has VHL, the couple has a 50% chance of passing on VHL to any child they have. About 1 in 5 VHL patients has de novo mutations; they may display genetic mosaicism* if the mutation has occurred past the point of initial cell division in the embryo, which may be underdiagnosed by conventional DNA testing using blood-derived sample.
* Mosaicism is a condition in which cells within the same person have a different genetic makeup. For VHL disease displayed genetic mosaicism, mutated VHL gene might be only found in that patient’s parts of organs or cells.
Prevalence:
The incidence of VHL ranges from approximately 1 in 36,000 live births to 1 in 45,500 live births.
The prevalence is estimated to be between 1 in 31,000 to 1 in 91,000 individuals.
Diagnosis:
There's no universal consensus on diagnosis of VHL disease. However, in most literatures and some published national guidelines, an individual may be considered to have VHL disease if they meet ≥1 of the following criteria:
1) ≥2 manifestations of VHL disease*, ≥1 of which is a hemangioblastoma; or
2) ≥1 manifestation of VHL disease* and either a pathogenic VHL mutation or a first-degree relative with VHL disease.
*VHL-related manifestations included in the criteria:
- Hemangioblastoma in the retina or central nervous system (CNS)
- Cerebellar, medulla oblongata, or spinal hemangioblastoma
- Endolymphatic sac tumor
- Renal Cell Carcinoma (RCC)
- Pheochromocytoma, paraganglioma, and/or glomus tumor
- Pancreatic neuroendocrine tumor (pNET)
Age of onset:
Mean age of symptom onset: 26 years. 97% of patients have symptoms by age 65 years.
Common signs and symptoms:
VHL-associated tumors can be benign or malignant; cysts are commonly associated with the tumors.
| VHL lesion | Common symptoms |
|---|---|
| CNS hemangioblastoma | Headaches, ataxia, nystagmus, back, arm and leg pain, and numbness |
| Retinal hemangioblastoma | Retinal detachment, and blindness |
| Renal lesions and RCC | Lower back pain, fatigue, and hematuria |
| Pheochromocytoma, paraganglioma | Hypertension, panic attacks, and postoperative adrenal insufficiency |
| Pancreatic neuroendocrine tumors or cysts | Pancreatitis, organ dysfunction, malabsorption, gut symptoms, and jaundice |
| Endolymphatic sac tumor | Hearing loss, tinnitus, and vertigo |
| Cystadenomas (male and female) | Pain, rupture, and possible hemorrhage |
Of all VHL manifestations, retinal or CNS hemangioblastomas and pheochromocytomas (PHEOs) have the youngest age of onset. The age of onset and pattern of disease vary widely, even within the same family. Patients with de novo mutations may show especially unpredictable disease if the mutation displays mosaicism.
Disease management tips:
Early diagnosis, regular surveillance, appropriate treatment, emotional support, and living a healthy lifestyle are all keys to effectively managing VHL and reducing the negative impacts of the disease.
References:
- National Cancer Institute. Von Hippel-Lindau Disease (PDQ®)–Health Professional Version
- National Organization for Rare Disorders. Von Hippel–Lindau Disease
Other useful websites:
What Is VHL? | Causes, Treatment, & More
This page is contributed by MSD.