Autoszomális domináns
Caused by changes that lead to overactivity of GREM1, which normally restrains BMP signalling in the bowel lining. The known cause is a duplication of a noncoding sequence near GREM1 that boosts its expression, originally described in Ashkenazi Jewish families.
Tünetek és jelek
Polyps in the colon and rectum of mixed types, usually only a few per colonoscopy, including adenomas, hyperplastic and mixed hyperplastic-inflammatory polyps, often appearing in adolescence or adulthood. Without surveillance, the risk of colorectal cancer is increased. Some families also have extracolonic tumours.
Mit változtat a diagnózis
Regular colonoscopy with removal of polyps as part of surveillance. Genetic counselling and testing of relatives are recommended.
Más néven
HMPS
Szintén szereplő specifikus formák
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- polyposis syndrome, hereditary mixed, 1
- polyposis syndrome, hereditary mixed, 2
