Abstract
Hereditary leiomyomatosis and renal cell cancer syndrome is an inherited autosomal dominant disorder that it is characterised by the appearance of cutaneous leiomyomas, uterine leiomyomas, and a type 2- papillary renal cell carcinoma, and with a poor prognosis. It is caused by germline mutations in FH, a gene that encodes the fumarate hydratase protein, and which take part in the Krebs cycle.Although it is a very rare disease, Arenas et al., in 2016, presented the first report of a Colombian family with the syndrome. As its existence in other families cannot be ruled out, it is essential to improve the knowledge of the disease among the medical community of this country. In this review, which was based in an exhaustive search of literature, the pathophysiology is explained, and the main guidelines for the diagnosis and treatment of this syndrome are provided.
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