遗传性出血性毛细血管扩张症1例及家系报告

患者,男,47岁。因左侧鼻腔反复出血1个月于2009年11月入院。     

Intravenous and topical intranasal bevacizumab (Avastin) in hereditary hemorrhagic telangiectasia

Current treatment of severe epistaxis in patients with hereditary hemorrhagic telangiectasia is not durable in reducing the frequency and severity of bleeds. Recent reports have demonstrated marked improvement of epistaxis with administration of either intravenous or topical bevacizumab. We present the long-term outcome of a patient who received repeated treatments of intravenous bevacizumab followed by maintenance intranasal bevacizumab. We demonstrate durable control of epistaxis with intranasal bevacizumab. This allows delivery of bevacizumab effectively, reduces cost, and obviates the risk of systemic adverse effects related to bevacizumab.     

Outcome of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia

OBJECTIVES/HYPOTHESIS: Septal dermoplasty has been recommended as the treatment of choice for life-threatening epistaxis in patients with hereditary hemorrhagic telangiectasia. The purpose of the study was to evaluate the effectiveness and outcomes of septal dermoplasty for management of transfusion-dependent epistaxis. STUDY DESIGN: Retrospective study. METHODS: Between 1994 and 2004, septal dermoplasty was performed on 67 consecutive patients with severe epistaxis attributable to hereditary hemorrhagic telangiectasia. The numbers of units of blood received 1 year before and 1 year after septal dermoplasty were obtained. A subjective appraisal of the results of the surgery as well as second procedures after septal dermoplasty was determined. Patients were screened for pulmonary and cerebral arteriovenous malformations, gastrointestinal tract bleeding, and symptomatic liver disease. RESULTS: Data were obtained in 66 of 67 (98%) patients with a mean age of 61.5 years (mean follow-up, 3.9 y). Accurate transfusion requirements 1 year before and 1 year after septal dermoplasty were available in 32 of 66 (48%) patients. In these 32 patients, the mean units of blood received decreased from 21 units (range, 2-100 units) 1 year before septal dermoplasty to 1 unit (range, 0-10 units) in the year after septal dermoplasty (P < .001). Improved quality of life was claimed in 57 patients. Second therapies, ranging from cautery to repeat partial septal dermoplasty, were required in 15 patients during follow-up. Among the 67 patients, 31 (46%) had pulmonary arteriovenous malformation, 14 (21%) had gastrointestinal tract bleeding, 7 (10%) had symptomatic liver disease, and 5 (7%) had cerebral arteriovenous malformation. During the follow-up, 14 patients died of other complications of hereditary hemorrhagic telangiectasia (11 patients) and unrelated causes (3 patients). CONCLUSION: Septal dermoplasty remains an effective way of reducing transfusion requirements in patients with hereditary hemorrhagic telangiectasia and subjectively improves their quality of life. The otolaryngologist caring for patients with hereditary hemorrhagic telangiectasia should be familiar with other organ involvement by hereditary hemorrhagic telangiectasia to prevent complications during surgery.     

Neodymium-YAG laser intranasal photocoagulation in hereditary hemorrhagic telangiectasia: an update report

Hereditary hemorrhagic telangiectasia is a challenging problem for the otolaryngologist since frequent, often severe epistaxis is the major symptom. Options for therapy in the past have included nasal packing, electrocautery, systemic estrogens, septal dermatoplasty, arterial embolization, and arterial ligation. Although successful treatment has been achieved with some of these methods, particularly septal dermatoplasty, other forms of therapy are needed prompting the use of laser photocoagulation. The neodymium yttrium-aluminum-garnet (Nd-YAG) laser was used to treat a group of 19 patients with hereditary hemorrhagic telangiectasia over a 4-year period without complications. Endonasal laser photocoagulation was effective in decreasing epistaxis in patients not requiring frequent transfusions prior to laser therapy. Three patients with the most severe epistaxis received minimal or no benefit from Nd-YAG laser photocoagulation. In most patients Nd-YAG photocoagulation is successful in treating epistaxis associated with hereditary hemorrhagic telangiectasia and should be a therapeutic option for this chronic disease having no available cure.     

Hereditary hemorrhagic telangiectasia: a review of 76 cases

OBJECTIVES/HYPOTHESIS: Hereditary hemorrhagic telangiectasia has long been viewed as a rare condition. Recent evidence indicates that the disorder is more frequent than previously thought. Recalcitrant epistaxis is a salient feature of this disease, and the otolaryngologist is often called on to make the diagnosis and guide the primary management of patients with hereditary hemorrhagic telangiectasia. Wider recognition of this condition, awareness of the natural history and associated findings, appropriate workup and screening for arteriovenous malformations (lungs, brain, liver), and knowledge of appropriate interventions can help avoid the considerable morbidity associated with hereditary hemorrhagic telangiectasia. STUDY DESIGN: Retrospective review. METHODS: Records of patients treated by the senior author (S.M.S.) for hereditary hemorrhagic teleangiectasia from 1993 to 2000 were reviewed. RESULTS: Seventy-six patients were identified, 98% of whom had epistaxis as their presenting complaint, with 75% having a family history of hereditary hemorrhagic telangiectasia. The severity of epistaxis varied in the patients: 66% had mild, 21% moderate, and 13% severe epistaxis. Sixty-four percent of patients had no transfusions, 25% had 1 to 10 transfusions, and 11% of patients had more than 10 transfusions. Complications of hereditary hemorrhagic telangiectasia were documented in 30% of patients. Screening for arteriovenous malformations was performed in only 34% of patients. Eighty-two percent of patients received a variable number of Nd:YAG laser treatments. CONCLUSIONS: The study presents the largest retrospective review of patients treated for hereditary hemorrhagic telangiectasia by a single otolaryngologist. The importance of a multidisciplinary approach facilitated by the otolaryngologist for evaluation of concomitant complications and morbidity (arteriovenous malformations) from hereditary hemorrhagic telangiectasia is demonstrated. An algorithm for controlling the epistaxis is presented.     

多脏器异常的遗传性出血性毛细血管扩张症一例

患者男,40岁.1992年5月因打喷嚏时突然右鼻出血,量约100ml,当地医院经前鼻孔填塞后血止,以后每年右鼻常出血反复发作,出血量10 ～ 100 ml,处理后血止.     

Intranasal topical estrogen in the management of epistaxis in hereditary hemorrhagic telangiectasia

Conclusion Application of topical estriol ointment is an effective treatment for hereditary hemorrhagic telangiectasia (HHT) epistaxis.

Objective HHT is an autosomal-dominant disease characterized by epistaxis in more than 96% of patients. Management of this major symptom, epistaxis, has not been standardized. This study reports experience with topical application of estriol in patients with HHT.

Methods Five patients with a confirmed diagnosis of HHT who first visited the hospital between 2012 and 2013 received 0.1% estriol ointment and were guided to apply the ointment twice daily to the anterior part of both nasal cavities. Severity of epistaxis was valued using epistaxis severity score (ESS) before and 3 months after initiating therapy.

Results Five patients (three males, two females) received treatment. After the initiation of treatment, intensity and frequency of epistaxis became moderate in all patients. ESS decreased significantly from pre- to post-treatment (p?=?0.043). No adverse events were recorded during follow-up.     

A retrospective analysis of low dose,intranasal injected bevacizumab (Avastin) in hereditary haemorrhagic telangiectasia

The constantly recurring epistaxis means a great reduction of quality of life for patients with hereditary haemorrhagic telangiectasia (HHT). As yet, an ideal treatment has not been found. Vascular endothelial growth factor (VEGF) has been described as a possible new therapy. In particular, the success of submucosal doses <100 mg has not been analysed before. We injected bevacizumab (Avastin) submucosally in addition to Nd:YAG laser therapy. Doses <7.5 mg were used. To investigate the effect of these additional injections in comparison to laser therapy alone, a retrospective analysis was done. For this purpose a standardized patient questionnaire was completed, which included recording the patients’ Epistaxis Severity Score (ESS) before and after the antibody treatment. Besides, patient files were analysed to collect objective data like haemoglobin levels and the number of blood transfusions needed. Data for eleven patients could be analysed. A significant improvement in the ESS resulting from additional bevacizumab therapy was observed (p < 0.01). In particular, the frequency of epistaxis (p = 0.011), duration of epistaxis (p < 0.01), severity of epistaxis (p < 0.01) and the need for acute medical treatment (p = 0.014) decreased significantly. The haemoglobin levels increased significantly (p = 0.011) and the number of blood transfusions declined. There were no side effects caused by the antibody treatment. Additional injections of a low dose of bevacizumab seem to be superior to Nd:YAG laser therapy alone. These results justify further studies.