Autozomálně dominantní
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.
Příznaky a projevy
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.
Co se diagnózou změní
Regular colonoscopy with removal of polyps as part of surveillance. Genetic counselling and testing of relatives are recommended.
Známé také jako
HMPS
Zahrnuty jsou také specifické formy
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- polyposis syndrome, hereditary mixed, 1
- polyposis syndrome, hereditary mixed, 2
