Higher incidence of gastrointestinal cancer in FSHD?

A small-scale study involving 31 adults with FSH and 30 without showed, with regard to extra-muscular manifestations:

  • the incidence of gastrointestinal cancer (gastric or colorectal) would be higher in FSH, from the age of 40 years, and not dependent on the length of the D4Z4 repeats,
  • an absence of significant difference for other, non-gastrointestinal cancers (without these being mentioned),
  • a higher incidence of cardiovascular events, diabetes and hyperlipidaemia in adults with FSH1.

Given the small number of participants, which may cause statistical bias, further large-scale studies will be needed to confirm or not these results.

 

Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients. >Kurashige T, Morino H, Ueno H, et al. J Hum Genet. 2022 (Nov)</a