What is VHL disease?

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 are able 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 disease occurs in 1 in 36,000 births.

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 an 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.

VHL UK/Ireland aims to raise funds via fundraising and donations for research, provide information and support for those affected and raise awareness.

Find out more →

Copyright © 2013 - 2017

VHL UK/Ireland Charity is registered in England and Wales 1160381 and Ireland 2010139

Charity Trust No: CT54346