About VHL (von Hippel Lindau) disease
von Hippel Lindau (VHL) disease patients battle a series of malignant and benign
tumours/cysts their whole lives.
The gene that is involved in VHL is also involved in other more common cancers, such as kidney
cancer and breast cancer. If researchers can to overcome the gene mutation for VHL, they
may be able to do the same for other cancers. Manifestations commonly occur on the retina,
brain and spinal cord, kidneys, pancreas, inner ears and adrenal glands (pheochromocytoma).
VHL genetic disorder is widely quoted as occurring 1 in 36,000 births. But the 2022 article Maher, UK Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service gives a range of 1 in 77,340 to 1 in 68,493 well within the definition of NICE criterion of “The disease is very rare defined by 1:50,000 in England”
As well as supporting VHL, the charity also supports the conditions of Hereditary
Leiomyomatosis and Renal Cell Cancer (HLRCC) and Birt-Hogg-Dubé (BHD).
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) patients often have benign skin
lumps (cutaneous leiomyomas) and if female earlier and larger fibroids (uterine leiomyomas)
leading to early hysterectomies. Also, there is a higher risk of developing aggressive kidney
cancer which can spread when small. Annual MRI screening is recommended.
Birt-Hogg-Dubé (BHD) patients often have benign skin lumps (fibrofolliculomas), lung cysts
and collapsed lung (spontaneous pneumothorax). Also, there is a higher risk of developing
kidney cysts and kidney cancer.
Meet VHL – Help us find a cure! – Video courtesy of VHL Alliance in the USA
