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Strategy and Management of Upper Bleeding in Hereditary Hemorragic Telangectasia

Rendu-Osler-Weber Disease


Corinaldesi, Giorgio, M.D., Ph.D.; Corinaldesi, Christian, M.D.

American Journal of Gastroenterology: September 2005 - Volume 100 - Issue - p S53
Supplement Abstracts Submitted for the 70th Annual Scientific Meeting of the American College of Gastroenterology: STOMACH

Medicina Generale, ASL 7, Ancona, Italy and Universita' Politecnica delle Marche, Ancona, Italy.

Purpose: We have studied the efficacy of rFVII in the treatment of gastrointestinal bleeding occurring in Rendu-Osler-Weber disease. The hereditary hemorragic telangectasia of Rendu-Osler-Weber (HHT) is an autosomal dominant disease with a genetic angiodysplasia affecting multiple organs: skin, lung, gastrointestinal and genitourinary tract, and brain; the diagnosis is based on the following criteria: familiarity, epistaxis, telangectasies, and visceral arterovenous malformations with a different clinical and symptomatological expression.

Methods: The HHT is genetically heterogeneous involving two loci HHT-1 (Chromosome 9q-34,1), and HHT-2 (chromosome 12q11-q14), the loci have been identified as endoglin (ENG) CD105, and activin receptor like kinase-1 (ALK-1) serine/threonine kinase receptor type1 of TGF-beta superfamily. We have studied a 52 years old patient presented with a story of recurrent bleeding and acute anaemia secondary to upper bleeding; the endoscopic study disclosed duodeno-jejunal angiodysplasia multifocale with mucous angectasia spider-like 1–2 mm, macular or papular spots, tortuous vessels. This patient also had frequent epistaxis treated with sequential photocoagulation with argon laser, and bleeding manifestations involving skin (red spots), bleeding episodes were predominantly spontaneous and less often trauma induced, bleeding trigger were absent, and also pulmonary and hepatic fistula were not found.

Results: All recurrent bleeding events responded to initial standard treatment strategies: blood transfusion with fresh frozen plasma, PRBC (packed red blood cells), drug therapy including A-PCCS (activated prothrombin complex concentrates), tranexamic acid until 6g/die, danazol, combined estrogen/progesterone therapy, octreotide (50 mcg iv followed by an infusion of 30 mcg/h for 5 days), anemia requiring oral iron supplement. Recently severe clinical symptoms and a strong hematemesis combined with an hemodynamic instability required an urgent EGS followed by enoscopic therapy with thermal probes together with high dose rFVII (220 mcg/kg), obtaining immediate benefit; no bleeding recurrence was detected after six months.

Conclusions: This therapeutical approach may require some more studies, but it can be a great choice for controlling refractory rebleeding in selected patients.

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