Related Subjects:
|Brain tumour s
|Astrocytomas
๐งฌ Von Hippel-Lindau (VHL) disease is an autosomal dominant tumour syndrome.
โ ๏ธ Renal cell carcinoma is the leading cause of death.
Other hallmark features: ๐ฏ retinal, cerebellar, and spinal haemangioblastomas.
๐ About Von Hippel-Lindau Disease
- Rare genetic disorder โ predisposes to multiple benign and malignant tumours.
- Most commonly affects: ๐ง CNS, ๐๏ธ retina, ๐ฉบ kidney, ๐ฅผ adrenal glands, and pancreas.
- Prevalence: ~1 in 36,000 worldwide.
๐งฌ Aetiology
- Mutation in the VHL gene (chromosome 3p25-26) โ tumour suppressor gene.
- VHL protein normally regulates hypoxia-inducible factors (HIFs).
๐ Mutation โ uncontrolled angiogenesis & tumour growth.
- Autosomal dominant inheritance, 50% transmission risk to offspring.
๐ฉบ Clinical Features
- Polycythaemia: From EPO secretion by haemangioblastomas โ โ Hb/Hct.
- Renal Cell Carcinoma (RCC): Leading cause of death; haematuria, loin pain, palpable mass.
- Phaeochromocytomas: Hypertension, palpitations, sweating due to catecholamine excess.
- Multiple Cysts: Kidney, pancreas, and liver โ often asymptomatic.
- CNS Haemangioblastomas: Headaches, ataxia, weakness (cerebellar/brainstem/spinal lesions).
- Retinal Haemangioblastomas: Visual loss if untreated; visible on fundoscopy.
๐ฌ Investigations
- Bloods: FBC (polycythaemia), plasma metanephrines/catecholamines if suspect phaeochromocytoma.
- MRI (with gadolinium): Gold standard for CNS haemangioblastomas.
- Ultrasound/CT Abdomen: For renal masses, pancreatic and hepatic cysts.
- Urinalysis: Microscopic haematuria โ possible RCC.
- Genetic Testing: Confirms diagnosis, enables screening in relatives.
๐ Management
- Surveillance: Lifelong โ annual/biannual MRI brain & spine, abdominal imaging, retinal exams.
- Renal Tumours: Nephron-sparing surgery preferred. Larger lesions โ partial/total nephrectomy.
- Phaeochromocytomas: Surgical excision after ฮฑ- then ฮฒ-blockade.
- Retinal Haemangioblastomas: Laser photocoagulation or cryotherapy to preserve vision.
- CNS Lesions: Neurosurgical resection for symptomatic haemangioblastomas.
- Genetic Counselling: Vital for family planning and screening relatives.
๐ Prognosis
- Depends on early detection and treatment of RCC and CNS tumours.
- Mortality mainly due to metastatic renal carcinoma or complications of CNS haemangioblastomas.
๐ References
- Maher ER, et al. Von HippelโLindau disease: a clinical and scientific review. Eur J Hum Genet. 2011.
- NICE. (2020). Renal cancer: diagnosis and management.
- RCOphth. Ocular manifestations of systemic disease.
