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Cases of liver involvement in patients with hereditary Rendu-Osler-Weber disease indicate hepatic abnormalities. In a study of 19 patients with this autosomal disorder, clinical manifestations show a variety of conditions that include heart-failure, bile duct disease, and liver hypertension.

Hereditary hemorrhagic telangiectasia may occur in many locations throughout the body and may respond favorably to various treatments. Telangiectasia is an abnormal permanent dilation of normal blood vessels in the skin or other mucous membranes resulting in the mixing of arterial and venous blood in the affected area and creating small red lesions. Hereditary hemorrhagic telangiectasia occurs in the stomach, intestinal tracts, brain, lung, skin, and nose. Treatments currently used for this disorder include laser therapy, transcatheter embolotherapy, vascular surgery, and estrogen therapy. Periodic evaluation for telangiectasia in the lung and brain may be advisable for otherwise affected patients. More precise identification of the genetic links to hereditary hemorrhagic telangiectasia may hold promise for future gene replacement therapy.

In seven of 255 consecutive patients (2.7%) who underwent pulmonary arteriovenous malformation (PAVM) embolization at our center between July 1, 1996, and July 1, 2000, the feeding artery was considered too short for safe occlusion with use of standard stainless-steel coils or detachable balloons. These patients were successfully treated with use of a modified vein of Galen technique similar to the one used for managing intracranial vein of Galen aneurysms. In this article, the authors report their experience with this technique in safely occluding the aneurysmal sacs of PAVMs in patients with short (<2 cm) feeding pulmonary arteries. [Copyright &y& Elsevier]

Patients with pulmonary arteriovenous malformations (PAVMs) are at risk for multiple complications and require close follow-up. We investigated the reproducibility of the 6-minute walk test (6MWT) and exercise stress test (EST) for the evaluation of low oxygen saturation in patients with PAVMs. Twenty-two patients with PAVMs, most of whom had hereditary hemorrhagic telangiectasia (HHT), participated in a Human Investigations Committee-approved protocol. Patients ranged from 9 to 74 years of age (mean 28) and had a broad spectrum of anatomic subtypes of PAVMs, including focal and diffuse. Standard 6MWT and cycle ergometry EST were both performed twice with adequate rest between tests. Heart rate (HR) and oxygen saturation were measured at the beginning and end of each test. Distance walked and maximum resistance was also recorded. The intraclass correlation coefficients (r) at the end of 6MWT were as follows: HR (r = 0.940; 95% confidence interval [CI] 0.863-0.975), oxygen saturation (r = 0.973; 95% CI 0.933-0.989), and distance (r = 0.942; 95% CI 0.867-0.975). The rs at the end of EST were as follows: HR (r = 0.941; 95% CI 0.865-0.975), oxygen saturation (r = 0.993; 95% CI 0.982-0.997), and maximum resistance (r = 0.941; 95% CI 0.864-0.975). 6MWT and EST were reproducible measures of exercise capacity and oxygen saturation and are potential adjunct tests in the follow-up assessment for patients with PAVMs. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The purpose of this retrospective study is to document the natural history of epistaxis in patients with hereditary hemorrhagic telangiectasia. A telephone questionnaire was administered to 73 patients who had been previously screened for pulmonary arteriovenous malformations (PAVMs). The incidence of epistaxis in this population was 93%, with a mean onset age of epistaxis of 12 years, a mean frequency of bleeding of 18 episodes per month, and a mean duration of bleeding of 7.5 minutes. More than 90% of patients experienced the onset of epistaxis before the age of 21 and symptoms were progressive with age. There were no differences in the age of onset, frequency of epistaxis, or duration of epistaxis between patients with PAVMs versus those without PAVMs. Although the natural history of epistaxis does not predict the presence or absence of pulmonary arteriovenous malformations, epistaxis is an early marker of the disease, hereditary hemorrhagic telangiectasia, and might guide screening for pulmonary and cerebral arteriovenous malformations in children of affected parents. [ABSTRACT FROM AUTHOR]

We evaluated the usefulness of adrenal vein epinephrine levels as an indicator of adrenal venous dilution in seven patients with primary aldosteronism who had venous sampling. In six patients adrenal vein epinephrine levels greater than 1500 pg/mL confirmed that relatively undiluted adrenal efflux had been obtained. In another patient a low value of left adrenal vein epinephrine indicated that the sample was markedly diluted with nonadrenal blood. Measurement of epinephrine levels appears to be a useful tool for verifying successful venous sampling, particularly when cortisol and aldosterone levels from the same adrenal vein are not elevated or when deep adrenal vein cannulation cannot be confirmed radiologically. [ABSTRACT FROM AUTHOR]

A prototype 0.018 pushable fibered microcoil with an extended length of 14 cm was developed and used successfully for the first time to treat a patient with bilateral varicocele. This new coil provides immediate cross-sectional occlusion when "nested" into a densely packed coil mass. Potential uses of this new microcoil are discussed. [ABSTRACT FROM AUTHOR]