Figure 7.

Endoglin in diagnostics. Several distinct mutations in the endoglin gene (ENG) give rise to hereditary hemorrhagic telangiectasia (HHT) that is mainly characterized by epistaxes (nosebleed), various visceral lesions, telangiectasia (spider veins) and arteriovenous malformations. Patients often show an appropriate family history. The clinical diagnosis “HHT” is made if three of the four classical signs (i.e., epistaxes, visceral lesions, telangiectasia and family history) occur. Elevated levels of soluble endoglin have been reported in patients suffering from hemolysis, elevated liver enzymes and low platelets syndrome (HELLP), pre-eclampsia, type 2 diabetes, atherosclerosis, tumorgenesis in several organs, and fibrogenesis.