Hereditary Paraganglioma Pheochromocytoma syndrome is associated with mutations in the SDH family of genes (SHDA, SDHB, SDHC, SDHD and SDHAF2 ). It is characterised by the development of paraganglioma and/or pheochromocytoma (“pheos” for short). In some cases, stomach cancers (called GISTs or GastroIntestinal Stromal Tumours) and/or kidney cancers occur. The likelihood of these tumours and cancers developing depends on which of the SDH genes is affected. It is very rare, affecting 1 in a million people. Paraganglioma and pheos can be associated with other syndromes including
- Von Hippel Lindau syndrome (VHL gene)
- Multiple Neuroendocrine syndrome (RET gene)
- Neurofibromatosis type 1 (NF1 gene)
- Genetics Home Reference site has information on Hereditary Paraganglioma Pheochromocytoma syndrome
- The Cancer Institute's eviQ pages provide accurate management and testing guidelines for individuals with Hereditary Paraganglioma Pheochromocytoma syndrome. The site is open to patients and doctors: they just ask that you register so that can track usage. Go to www.eviQ.org.au and look under Cancer Genetics, Management in the left hand Category Menu
- The Pheo Para Trooperssupport group is for individuals and families affected by Hereditary Paraganglioma Pheochromocytoma syndrome, Paraganglioma and/or Pheochromocytoma. They are based in the USA but have members around the world.