Abstract
Background: Hereditary hemorrhagic telangiectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by artero-venous malformations (AVMs or telangiectasia) with autosomal dominant transmission. AVMs can occur in any organ of the body but most commonly it occurs in the nose, pulmonary, hepatic and cerebral circulations. In patients with HHT, we report teleangectasia of mucosa of the gastrointestinal tract.
Methods: Research and online content related to HHT online activity is reviewed, and DOC writing excerpts are used to illustrate key themes.
Results: Patients with HHT have a high rate of complications related to bleeding; of them gastrointestinal bleeding accounts for 10.8%. Several therapies, both medical and endoscopic, were utilized to reduce the need for transfusions and hospitalization.
Conclusion: A combination of medical and endoscopic therapy is probably the best option.
Keywords: Rendu-Osler disease, bleeding, anemia, endoscopy, argon-plasma-coagulation, endothelial-growth factor.
Graphical Abstract
[http://dx.doi.org/10.1186/s13023-019-1107-4]
[http://dx.doi.org/10.1056/NEJM199510053331407] [PMID: 7666879]
[PMID: 25342923]
[http://dx.doi.org/10.1513/AnnalsATS.201603-200OC] [PMID: 27387823]
[http://dx.doi.org/10.1002/ajmg.1320320302] [PMID: 2729347]
[http://dx.doi.org/10.1038/ajg.2014.19] [PMID: 24642577]
[http://dx.doi.org/10.4081/hr.2016.6348]
[http://dx.doi.org/10.1097/MCG.0b013e318032391f] [PMID: 18496387]
[http://dx.doi.org/10.1007/s00277-010-1063-5] [PMID: 20824275]
[http://dx.doi.org/10.1016/0140-6736(90)91010-8] [PMID: 1970032]
[PMID: 8362842]
[PMID: 7806146]
[http://dx.doi.org/10.1007/s10620-010-1193-6] [PMID: 20393879]
[http://dx.doi.org/10.1111/apt.12000] [PMID: 22831465]
[PMID: 25659389]
[http://dx.doi.org/10.1097/MEG.0000000000000673] [PMID: 27227688]
[http://dx.doi.org/10.1111/j.1572-0241.2007.01053.x] [PMID: 17311647]
[http://dx.doi.org/10.1160/TH13-11-0952] [PMID: 24898873]
[http://dx.doi.org/10.1186/s13023-018-0982-4]
[http://dx.doi.org/10.3748/wjg.v22.i11.3158] [PMID: 27003992]
[http://dx.doi.org/10.1053/j.gastro.2011.07.018] [PMID: 21784047]
[http://dx.doi.org/10.1016/j.jpg.2014.05.001]
[http://dx.doi.org/10.1016/j.dld.2014.04.011] [PMID: 24893688]
[http://dx.doi.org/10.1177/2050640614559121] [PMID: 26966525]
[http://dx.doi.org/10.4240/wjgs.v8.i12.792] [PMID: 28070235]
[http://dx.doi.org/10.1056/NEJMc0901421] [PMID: 19439755]
[http://dx.doi.org/10.1056/NEJMc1012774] [PMID: 21323562]
[http://dx.doi.org/10.1007/s00277-019-03845-1] [PMID: 31773212]
[http://dx.doi.org/10.1016/j.mayocp.2017.11.013] [PMID: 29395350]
[PMID: 7717311]
[http://dx.doi.org/10.1016/S0016-5085(77)80149-2] [PMID: 300063]
[http://dx.doi.org/10.1038/gim.2013.62] [PMID: 23722869]
[http://dx.doi.org/10.1055/s-2004-826045] [PMID: 15578297]
[http://dx.doi.org/10.1055/s-0034-1391855] [PMID: 25826168]
[PMID: 11995469]
[http://dx.doi.org/10.1055/s-2007-966562]
[http://dx.doi.org/10.1097/MCG.0000000000000266] [PMID: 25518005]
[http://dx.doi.org/10.1111/den.12384] [PMID: 25251991]
[http://dx.doi.org/10.3748/wjg.v25.i22.2720] [PMID: 31235995]
[http://dx.doi.org/10.1111/jgh.13479] [PMID: 27356264]