Autosomal dominant condition comprising haemangioblastomas of the retina and central nervous system, phaeochromocytomas, and renal cell carcinomas and angiomas. The diagnosis is confirmed by genetic testing.
To diagnose Von Hippel Lindau a detailed and full general examination is mandatory in the initial assessment of all endocrine patients.
This is particularly important in multisystem diseases such as VHL.
Blood pressure will typically be elevated, but may revert to normal between attacks.
'Cafe au lait' patches have been reported in VHL although they are typically associated with phaeochromocytomas in neurofibromatosis.
Gentle examination of the abdomen should be performed for possible masses. Deep palpation is inappropriate as this may trigger an attack. Renal, epididymal, and pelvic masses should also be sought in patients with VHL as various urogenital tumours have been described in patients with this condition.
Malignant renal tumours are particularly commn in VHL.
Fundoscopy should be performed as soon as the diagnosis of VHL is considered, and formal retinal angiography and ophthalmological assessment should be arranged on confirmation of the diagnosis.
Full neurological examination is necessary due to the association of phaeochromocytomas with haemangioblastomas in VHL, which can occur through out the central nervous system.
Urine should be analysed in all patients with phaeochromocytoma seeking evidence of end organ damage due to hypertension or hypercalcaemia, but also as a screen for haematuria and malignant cells in VHL.