Abstract
The hereditary hemorrhagic teleangectasia 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, teleangectasies, and visceral arterovenous malformations with a different degree of expression. 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 type-1 of TGF-beta superfamily.
We have studied a 52 years old patient presented with a story of recurrent bleeding and acute anemia secondary to strong epistaxis and upper bleeding: the endoscopic study disclosed multiple spots of duodeno-jejunal angiodysplasia with mucous angectasia spider-like 1–2 mm, macular spots, tortuous vessels. This patients also had frequent spontaneous epistaxis, in particular the management of most common anterior forms (locus Valsalvae, Kiesselbach area) is based on nostril pinching and the former abstersion of clots, irrigation with antifibrinolytic drugs and also on more packing with Lyofoam, Surgical, or Merocel leaflet or with Clauden or Vasenol lint which has to stay on site for 3–4 days with an antibiotic coverage, the relapsing cases were treated with sequential photocoagulation with argon-laser. In order to control high posterior epistaxis in case of emergency, the super-selective angiographic embolization with jelly sponge, polyvinyl-alcohol particles, detachable or endoscopic ultraligation of the anterior ethmoidal and or the sphenopalatine artery. All recurrent bleeding events responded to initial standard treatment strategies: blood transfusion with fresh frozen plasma, PRBC, drugs therapy including A-PCCS, tranexamic acid until 6 g/day, danazol, combined estrogen/progesterone therapy, octreotide (50 mcg iv followed by an infusion of 30 mcg/h for 5 days), anaemia required iron supplement. Recently severe clinical symptoms and a severe epistaxis and hematemesis combined with an hemodinamic instability required an urgent EGS followed by endoscopic therapy with termal probes together with high dose rFVII (220 mcg/kg), obtaining immediate benefit; no bleeding recurrence was detected after six months. This therapeutical approach may require some more studies, but it can be a great choice for controlling refractory re-bleeding in selected patients.
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