We report a case of severe, refractory gastrointestinal(GI) bleeding in a patient with hereditary hemorrhagic telangiectasia(HHT) whose massive transfusion dependence was lifted shortly after treatment with bevacizuma...We report a case of severe, refractory gastrointestinal(GI) bleeding in a patient with hereditary hemorrhagic telangiectasia(HHT) whose massive transfusion dependence was lifted shortly after treatment with bevacizumab, an anti-vascular endothelial growth factor. The patient's bleeding had been refractory to repeated endoscopic interventions, tranexamic acid, and tamoxifen. However, following treatment with bevacizumab at 5 mg/kg every other week, nearly 300 units of packed red blood cell transfusions were avoided in one year's time. Despite its relatively high cost, bevacizumab may have a more active role in the management of severe GI bleeding in HHT if such remarkable response can be consistently demonstrated.展开更多
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder with variable expressivity. We present a 62-year-old patient with a rare, late-onset disease course featuring a novel mutation in ACVRL1, a...Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder with variable expressivity. We present a 62-year-old patient with a rare, late-onset disease course featuring a novel mutation in ACVRL1, a signal transducer in the TGFβ/BMP pathway.展开更多
Background: Hereditary hemorrhagic telangiectasia (HHT) is a relatively common, albeit under-recognized autosomal-dominant multisystemic vascular disorder. Epistaxis due to telangiectases in the nasal mucosa is the mo...Background: Hereditary hemorrhagic telangiectasia (HHT) is a relatively common, albeit under-recognized autosomal-dominant multisystemic vascular disorder. Epistaxis due to telangiectases in the nasal mucosa is the most common and often the earliest symptom of HHT. As many as 90% of affected individuals eventually experience recurrent epistaxis, with a mean frequency of 18 episodes per month. Prompted by the limitations of invasive treatment, researchers have directed attention to laser photocoagulation as an alternative nonsurgical treatment modality with promising results. Purpose: The purpose of the present study was to describe our experience with the state-of-the-art 980 nm diode laser for the treatment of bleeding lesions of the skin, nasal and oral mucosa in patients with HHT. Methodology/Principal: We treated 16 HHT patients with intractable bleeding from telangiectasias using the 980-nm diode laser as an office procedure using local anesthesia. We recorded hemoglobin levels before and after treatment and used disability questionnaires. Results: All patients treated had an improvement in hemoglobin levels and disability scores. In patients with multiple lesions hemoglobin levels improved from a mean of 8.4 to 11.2 (p = 0.008). The disability index in this group improved from a mean of 5.3 to 2.8 (p = 0.007). Follow-up ranged between 4 and 12 months. Conclusions: The 980-nm diode laser is a good office based solution for bleeding in HHT.展开更多
文摘We report a case of severe, refractory gastrointestinal(GI) bleeding in a patient with hereditary hemorrhagic telangiectasia(HHT) whose massive transfusion dependence was lifted shortly after treatment with bevacizumab, an anti-vascular endothelial growth factor. The patient's bleeding had been refractory to repeated endoscopic interventions, tranexamic acid, and tamoxifen. However, following treatment with bevacizumab at 5 mg/kg every other week, nearly 300 units of packed red blood cell transfusions were avoided in one year's time. Despite its relatively high cost, bevacizumab may have a more active role in the management of severe GI bleeding in HHT if such remarkable response can be consistently demonstrated.
文摘Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder with variable expressivity. We present a 62-year-old patient with a rare, late-onset disease course featuring a novel mutation in ACVRL1, a signal transducer in the TGFβ/BMP pathway.
文摘Background: Hereditary hemorrhagic telangiectasia (HHT) is a relatively common, albeit under-recognized autosomal-dominant multisystemic vascular disorder. Epistaxis due to telangiectases in the nasal mucosa is the most common and often the earliest symptom of HHT. As many as 90% of affected individuals eventually experience recurrent epistaxis, with a mean frequency of 18 episodes per month. Prompted by the limitations of invasive treatment, researchers have directed attention to laser photocoagulation as an alternative nonsurgical treatment modality with promising results. Purpose: The purpose of the present study was to describe our experience with the state-of-the-art 980 nm diode laser for the treatment of bleeding lesions of the skin, nasal and oral mucosa in patients with HHT. Methodology/Principal: We treated 16 HHT patients with intractable bleeding from telangiectasias using the 980-nm diode laser as an office procedure using local anesthesia. We recorded hemoglobin levels before and after treatment and used disability questionnaires. Results: All patients treated had an improvement in hemoglobin levels and disability scores. In patients with multiple lesions hemoglobin levels improved from a mean of 8.4 to 11.2 (p = 0.008). The disability index in this group improved from a mean of 5.3 to 2.8 (p = 0.007). Follow-up ranged between 4 and 12 months. Conclusions: The 980-nm diode laser is a good office based solution for bleeding in HHT.
