FH
Associated conditions:
- Renal/urinary tract cancer
- Sarcoma
- Fumarate hydratase deficiency
FH makes fumarate hydratase, an enzyme in the cell's energy cycle that also behaves as a tumour suppressor. Genetic changes in this gene are associated with an autosomal dominant condition called hereditary leiomyomatosis and renal cell cancer (HLRCC), bringing skin and uterine growths plus an aggressive kidney cancer, and, when both copies are altered, with an autosomal recessive condition called Fumarate Hydratase Deficiency, a distinct and more serious childhood condition. Knowing your genetic status enables regular kidney imaging, since HLRCC-related kidney cancer can spread early.
Conditions linked to FH
Renal/urinary tract cancer
Cancers of the kidney and urinary tract develop in the kidneys, ureters or bladder lining. Several inherited variants raise their risk, so carriers may be offered periodic kidney imaging and urine testing to catch tumours early.
Sarcoma
Sarcomas are cancers of connective tissues such as bone, muscle, fat and cartilage. Certain inherited syndromes raise their risk, so awareness supports prompt assessment of unexplained lumps or bone pain and, in some syndromes, imaging surveillance.
