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Presents an overview of hereditary hemorrhagic telangiectasia. Pathophysiologic features; Clinical manifestations; Molecular genetics; Diagnosis; Management; Future developments.

Background: Hereditary hemorrhagic telangiectasia, or Rendu–Osler–Weber disease, is an autosomal dominant disorder characterized by angiodysplastic lesions (telangiectases and arteriovenous malformations) that affect many organs. Liver involvement in patients with this disease has not been fully characterized. Methods: We studied the clinical findings and results of hemodynamic, angiographic, and imaging studies in 19 patients with hereditary hemorrhagic telangiectasia and symptomatic liver involvement. Results: We evaluated 14 women and 5 men who ranged in age from 34 to 74 years. All but one of the patients had a hyperdynamic circulation (cardiac index, 4.2 to 7.3 liters per minute per square meter of body-surface area). In eight patients, the clinical findings were consistent with the presence of high-output heart failure. The cardiac index and pulmonary-capillary wedge pressure were elevated in the six patients in whom these measurements were performed. After a median period of 24 months, the condition of three of the eight patients had improved, four were in stable condition with medical therapy, and one had died. Six patients had manifestations of portal hypertension such as ascites or variceal bleeding. The hepatic sinusoidal pressure was elevated in the four patients in whom it was measured. After a median period of 19 months, the condition of two of the six patients had improved, and the other four had died. Five patients had manifestations of biliary disease, such as an elevated alkaline phosphatase level and abnormalities on bile duct imaging. After a median period of 30 months, the condition of two of the five had improved, the condition of one was unchanged, heart failure had developed in one, and one had died after an unsuccessful attempt at liver transplantation. Conclusions: In patients with hereditary hemorrhagic telangiectasia and symptomatic liver involvement, the typical clinical presentations include high-output heart failure, portal hypertension, and biliary disease. (N Engl J Med 2000;343:931-6.) [ABSTRACT FROM AUTHOR]

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disease with a wide spectrum of vascular malformations (VMs) involving multiple organs. Nine to 16% of patients with HHT harbor brain arteriovenous malformations (AVMs), which can cause intracranial hemorrhage (ICH). Our objective was to study clinical manifestations of brain AVMs in patients with HHT and correlate these with the specific gene mutated. We reviewed records of 171 patients with HHT and brain AVMs. A history of ICH was found in 27% (41/152) patients, with a mean age of 26 ± 18 range, (0-68) years. All of patients with ICH were neurologically asymptomatic prior to ICH. Multiple brain AVMs were found in 23% (170/39) of patients on initial examination. Genetic test results were available in 109 (64%) patients. Mutations in ENG, ACVRL1, and SMAD4 were present in 75 (69%), 18 (17%), and 2 (2%), respectively. A history of ICH was reported in 24% of patients with an ENG mutation and 27% of patients with an ACVRL1 mutation, with a mean age of 26 ± 16 (range, 2-50) and 18 ± 21 (0-48) years, respectively. No statistically significant differences in age at first brain AVM diagnosis, prevalence of ICH history, age at ICH, or other manifestations of brain AVMs were observed among gene groups. In conclusion, no evidence for differences in brain AVM characteristics was observed among HHT gene groups, although we cannot exclude clinically important differences. Larger studies are needed to further guide brain AVM screening decisions in patients with HHT., (Copyright © 2012 Wiley Periodicals, Inc.)

Background: Surgical treatment of epistaxis in hereditary hemorrhagic telangiectasia (HHT) has historically been managed with the laser procedure or the septodermoplasty procedure. For transfusion-dependent patients with severe epistaxis we have been performing the Young's procedure or surgical closure of the nostrils. The objective of this study was to report treatment of severe epistaxis related to HHT with the Young's procedure and assess patient outcome., Methods: Patients with severe iron or blood transfusion-dependent epistaxis who underwent a Young's procedure in three otolaryngology HHT centers were reviewed. Patients were evaluated for postoperative epistaxis and subjective outcome., Results: Forty-three patients underwent a Young's procedure for severe epistaxis and were observed for a mean of 34 months. The procedure was well tolerated by all patients and 30 of 36 patients (83%) experienced complete cessation of bleeding after the Young's procedure. Patients had a mean increase in hemoglobin of 4.68 g/dL after the procedure. The average Glasgow Benefit Inventory score after surgery was 43.56. No patients requested a reversal of the procedure., Conclusion: The Young's procedure is a safe and efficacious procedure with complete cessation of epistaxis in most patients with severe epistaxis and HHT.

Spontaneous hemothorax as a result of a ruptured pulmonary arteriovenous malformation (PAVM) is a life-threatening event and requires immediate interventional therapy. We present two patients who survived following emergent embolization. Definitive thoracentesis was delayed until embolization was performed. The tamponade provided by the hemothorax may have prevented exsanguination, suggesting to us that drainage of blood from the pleural space should be delayed until the PAVM has been treated. Hemorrhage from a PAVM may be the first manifestation of hereditary hemorrhagic telangiectasia. Genetic testing and screening for other family members should be considered.

Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in SMAD4 and BMPR1A (for JP) and endoglin and ALK1 (for HHT). Recently, a combined syndrome of JP-HHT was described that is also caused by mutations in SMAD4. Although both JP and JP-HHT are caused by SMAD4 mutations, a possible genotype:phenotype correlation was noted as all of the SMAD4 mutations in the JP-HHT patients were clustered in the COOH-terminal MH2 domain of the protein. If valid, this correlation would provide a molecular explanation for the phenotypic differences, as well as a pre-symptomatic diagnostic test to distinguish patients at risk for the overlapping but different clinical features of the disorders. In this study, we collected 19 new JP-HHT patients from which we identified 15 additional SMAD4 mutations. We also reviewed the literature for other reports of JP patients with HHT symptoms with confirmed SMAD4 mutations. Our combined results show that although the SMAD4 mutations in JP-HHT patients do show a tendency to cluster in the MH2 domain, mutations in other parts of the gene also cause the combined syndrome. Thus, any mutation in SMAD4 can cause JP-HHT. Any JP patient with a SMAD4 mutation is, therefore, at risk for the visceral manifestations of HHT and any HHT patient with SMAD4 mutation is at risk for early onset gastrointestinal cancer. In conclusion, a patient who tests positive for any SMAD4 mutation must be considered at risk for the combined syndrome of JP-HHT and monitored accordingly., (Copyright 2010 Wiley-Liss, Inc.)

Patients with diffuse pulmonary arteriovenous malformations (PAVMs) are subject to frequent complications and need to be followed closely. As part of this follow-up, we have employed exercise stress testing (EST) as an aid to assess their status. Twenty patients from a cohort of 35 with diffuse PAVMs have undergone EST using a standard cycle ergometer test. All patients had previously undergone pulmonary angiography, noncontrast chest computed tomography (CT), and repair of large focal PAVMs, prior to EST. Mean room air oxygen saturation at baseline and at maximum exercise (85% of maximum heart rate) were tabulated. Serial studies in six children and young adults were plotted by year and compared using the patient as their own control. Fourteen females and six males ranging in age from 4 to 50 years (mean 22 years) were studied. Baseline mean oxygen saturation was 84% and fell to 73% at maximum exercise. There was no significant difference between those with unilateral and bilateral involvement (P = 0.09). In four of the six patients with serial EST, the baseline and exercise oxygen saturations were quite stable. In the two patients who became symptomatic, with age, growth, and more activity, complete embolization of one or more segments of the lung improved their EST and functionality. Based on our previous work in patients with diffuse PAVMs, EST appears to offer a relatively safe and noninvasive method for assessing these patients. Our limited experience with serial EST suggests a good correlation with decreased functionality in these patients.

Purpose: To test the hypothesis that not all embolic materials are equivalent by using postprocedural magnetic resonance (MR) imaging enhancement of uterine fibroids in patients treated with uterine artery embolization (UAE)., Materials and Methods: Approval and a waiver of consent from the institutional human investigations committee was received for this study. The study was HIPAA compliant. A total of 84 women who underwent 6-month MR imaging follow-up constituted this retrospective study. Within this group, 25 women were treated with Contour polyvinyl alcohol (PVA) particles, 23 were treated with Contour SE particles, 19 were treated with Embosphere microspheres, and 17 were treated with Bead Block microspheres. Pre- and postprocedural MR imaging results were analyzed for the total number of fibroids present in the uterus of each patient and for the percentage of individual fibroid enhancement. Enhancement of individual fibroids was measured with quartile intervals. Greater than 25% residual enhancement of a fibroid after embolization was considered an incomplete infarction. The overall percentage change in enhancement was calculated for each patient. Bivariate analysis by using generalized linear modeling and one-way analysis of variance was used to assess differences in infarction with different embolic materials., Results: Among patients treated with Contour and Embosphere, there was a mean reduction in enhancement by 76.60% and 83.07%, respectively, compared with a mean reduction of 52.53% and 49.78% in patients treated with Bead Block and Contour SE, respectively. There was a significant difference in postembolization enhancement between Bead Block and Embosphere, Bead Block and Contour, Contour SE and Embosphere, and Contour SE and Contour., Conclusion: Patients treated with Bead Block or Contour SE demonstrated a reduced degree of infarction at follow-up MR imaging compared with patients treated with Contour or Embosphere.

Objective: Septal dermoplasty has been recommended as the treatment of choice for life-threatening epistaxis in patients with hereditary hemorrhagic telangiectasia. This study evaluates the complications of septal dermoplasty in the management of transfusion-dependent epistaxis., Study Design: Consecutive retrospective study., Subjects and Methods: Between 1994 and 2006, septal dermoplasty was performed on 106 consecutive patients with transfusion dependent epistaxis. Of 103 potential patients, 37 either died or were lost to follow-up, which left 66 patients for study. Data on complications and quality of life were collected on 50 (76%) of 66 patients (mean follow-up, 3.75 years) via phone interview., Results: Seventy-eight percent experienced nasal odor; 72% had nasal crusting; 58% had decreased sense of smell; 30% noted worsened sinus infection; 88% could breathe through their nose; 86% stated improved quality of life., Conclusion: Septal dermoplasty remains an effective way of treating transfusion dependent epistaxis in patients with hereditary hemorrhagic telangiectasia and subjectively improves their quality of life.

Objective: Comparison of recurrence of magnetic resonance imaging (MRI) enhancement of uterine fibroids treated with uterine artery embolization (UAE) among embolic agents: polyvinyl alcohol (PVA), spherical PVA (SPVA), and tris-acryl gelatin microspheres (GM)., Methods: Pre/post-UAE gadolinium-enhanced MRIs were evaluated for residual enhancement of fibroids after UAE. Data were analyzed using 2-tail Fisher exact test to determine the likelihood of recurrence of enhancement post-UAE among embolic agents., Results: One hundred one women underwent UAE. A total of 24 (41%) of 59 embolized with PVA, 18 (75%) of 24 with SPVA, and 4 (22%) of 18 with GM showed residual enhancement in some or all fibroids. Statistically significant differences in presence of residual enhancement on follow-up were found between SPVA and PVA (P = 0.0072), and SPVA and GM (P = 0.0015), but not between PVA and GM (P = 0.1756)., Conclusions: Patients embolized with SPVA have a higher risk of having residual enhancement on follow-up MRI than those embolized with PVA or GM.

Purpose: To report the results of treatment of adolescent patients with varicocele with use of 3% sodium tetradecyl sulfate foam (STS) in combination with pushable fibered coils., Materials and Methods: From September 2004 to September 2006, 16 adolescent patients (age 12-19 y) with symptomatic varicocele, testicular atrophy, or surgical recurrence underwent embolization with STS foam and coils. The left internal spermatic vein (ISV) was coaxially catheterized from the right femoral vein. Three percent STS foam was placed distally in the ISV during compression so minimal foam entered the pampiniform plexus. A second nest of coils was placed in the ISV at a position over the sacroiliac (SI) joint that occluded most of the parallel collateral vessels. Coils were not placed above the SI joint in most instances. Additional foam was injected in the ISV at the upper level of the SI joint. The upper ISV was left unoccluded. Our standard follow-up consisting of ultrasound and/or physical examination after varicocele occlusion was performed 2-12 months after the procedure., Results: All occlusions were technically successful, and 15 of 16 patients (94%) exhibited proven disappearance of the varicocele. All patients were asymptomatic except one who had pain despite disappearance of the varicocele. One patient with a bleeding disorder had 48 hours of scrotal discomfort as a result of pampiniform phlebitis caused by the deliberate passage of foam into the pampiniform plexus., Conclusions: The use of 3% STS foam in combination with pushable fibered coils is a safe and effective sclerosing procedure for adolescent subjects with varicocele.

To retrospectively evaluate the use of Micronester coils in port-catheter implantation with the fixed catheter tip method in comparison with other previously used coils. The cohort of this study was 143 consecutive patients with unresectable advanced liver cancer for whom a port-catheter system was percutaneously implanted. In the most recent 32 patients, Micronester coils were used for catheter tip fixation. Details of embolic agents for fixation, persistent blood flow beyond the distal end of the indwelling catheter, and complications were compared between cases without and with Micronester coils. In all, percutaneous port-catheter placement was successful. Mean number of coils used for fixation was 4.2 without Micronester coils vs. 2.5 with Micronester coils. N-butyl cyanoacrylate (NBCA)-Lipiodol was additionally used for catheter tip fixation in 85.6% of 111 procedures without Micronester coils and in 50% of 32 using Micronester coils. The gastroduodenal artery beyond the distal end was not detected at the final examination after any procedure. Catheter dislocation occurred in five and hepatic arterial obstruction or severe stenosis in eight. The number of coils used and necessity of NBCA-Lipiodol could be decreased with usage of Micronester coils without decreasing fixation ability compared to other coils.

Pulmonary arteriovenous malformations (PAVM) are high-flow, low-pressure shunts, consisting of a single feeding artery connecting via an aneurysmal sac to a draining vein. The aneurysmal connection is referred to as an aneurysmal sac. The "filter capacity" of the pulmonary capillaries is lost and results in predisposition to brain abscess, stroke, and transient ischemic attack and, when multiple, dyspnea, because of right-to-left shunting and hypoxemia. PAVM are markers of hereditary hemorrhagic telangiectasia (HHT). Up to 30% of patients with HHT have PAVM complicating their disorder. Left untreated, 50% of patients with PAVM will develop disabling or fatal complications. In addition to stroke and transient ischemic attack syndromes due to passage of paradoxical emboli through the PAVM, rupture of the aneurysmal sac, particularly in the third trimester of pregnancy, can lead to fatal hemoptysis or hemothorax. Finally, brain abscess or more obscure musculoskeletal or spinal infections may be secondary to PAVM. Since detachable silicone balloons are no longer available, we have developed precise techniques for closing pulmonary malformations using pushable fibered coils. It is not the coil that is so important, but it is the use of coaxial or triaxial catheters that allow for precise placement of the coil. Cross-sectional occlusion is essential for embolization of PAVM and this is achieved using the "anchor" or "scaffold" technique. Our recent results indicate permanent involution of treated malformations with a 3% recurrence rate. All patients should be assessed for other manifestations of HHT before treatment and they are best followed in one of the 20 HHT Centers worldwide (www.hht.org).

Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal angiogenesis with resultant telangiectasia formation in mucocutaneous tissues, visceral organs, and the central nervous system. The most common manifestation of HHT is epistaxis resulting from trauma to thin-walled telangiectasias. Many patients with HHT experience worsened epistaxis due to the presence of a septal perforation. Septal perforation in HHT patients results from aggressive noncartilage sparing treatments such as monopolar cauterization. Although the mainstay of treatment for patients with severe transfusion-dependent HHT remains to be septal dermoplasty (SD), patients with a septal perforation are less likely to have a successful outcome. In this small subset of patients, septectomy (ST) combined with SD is proposed to eliminate this variable to improve skin graft uptake and therefore outcome. This study reviews the indications, procedure, and outcome of nine patients with severe transfusion-dependent HHT and septal perforation who underwent the combined procedure of SD/ST., Methods: Nine HHT patients with severe transfusion-dependent epistaxis and septal perforation underwent SD/ST at our institution over a 5-year period. Quality of life, including number of daily events of epistaxis, and transfusion requirements were determined before and after surgery. Technical aspects of the procedure as well as complications were reviewed., Results: The combined procedure of SD/ST resulted in a long-lasting subjective improvement in quality of life for all patients. Similarly, transfusion requirements were reduced from 22.61 to 9.57 (p < 0.05). There were no complications or increased morbidity from the procedure., Conclusion: Combined SD/ST is a safe and effective treatment for HHT patients with transfusion-dependent epistaxis and septal perforation.

Study Purpose: To formulate recommendations about clinical management of liver involvement in hereditary hemorrhagic telangiectasia (HHT), using a formal consensus development process., Consensus Process: A nominal group technique was used. A list of main clinical, diagnostic and therapeutic issues about liver involvement in HHT was generated by the organizing committee. Panel members then scored their agreement with each statement; the median score, and standard deviation for each statement were determined for each of the three successive panel rounds. These consensus statements formed the basis for recommendations graded with the strength and quality of supporting evidence., Recommendation Statements: Doppler US is sufficiently accurate and suitable for first-line imaging of the liver in the general HHT population. Liver biopsy in any patient with proven or suspected HHT should be avoided. Liver involvement in HHT is generally asymptomatic; in the minority of patients where it is symptomatic, morbidity and mortality can be substantial. The prevalence of focal nodular hyperplasia is much higher in patients with liver involvement by HHT than in the general population. Invasive therapies for liver involvement by HHT (namely liver transplantation) should be considered only in patients who have failed to respond to intensive medical therapy.

Objective: The purpose of our study was to report the multiphasic CT findings in patients with symptomatic liver involvement by hereditary hemorrhagic telangiectasia (HHT) and to correlate the CT findings with the type of clinical presentation., Conclusion: Patients with symptomatic HHT liver disease have diffuse hepatic telangiectases, a dilated common hepatic artery, and a high incidence of biliary abnormalities. Multiphasic CT is useful in diagnosing liver involvement due to HHT; however, no strong correlation was seen between CT findings and the clinical subtype of HHT liver disease.

Purpose: To assess long-term clinical and imaging results of technically successful pulmonary arteriovenous malformation (AVM) embolization., Materials and Methods: One hundred fifty-five patients with pulmonary AVMs underwent embolization during a period of 3 years. Recommended follow-up included clinical assessment, helical computed tomography, and physiologic evaluation within 1 year and then every 5 years., Results: Hereditary hemorrhagic telangiectasia was present in 148 patients (95%). Four hundred fifteen pulmonary AVMs were occluded during 205 procedures. Clinical follow-up was available in all patients over 3-7 years and imaging follow-up was available in 144 patients (393 lesions) over 1-7 years (mean, 2.9 y). Problems related to pulmonary AVMs occurred in 35 patients (23%) at 42 time points: 22 patients with 23 symptomatic events and 17 patients with 19 asymptomatic events. Symptoms resulted from growth of nonembolized pulmonary AVMs (n = 19), residual embolized pulmonary AVMs (n = 5), or both (n = 2). Symptoms consisted of respiratory manifestations (n = 13), cerebral ischemia (n = 4), brain abscess (n = 5), hemoptysis (n = 3), and seizure (n = 1). Imaging showed pulmonary AVM involution in 97% of embolized lesions and 11 residual lesions (2.8%) in 10 patients (6.9%). These were caused by recanalization (n = 7), presence of an accessory feeding artery (n = 1), pulmonary collateral vessels (n = 1), and bronchial collateral vessels (n = 2). CT detected 10 of the 11 residual lesions. Imaging detected 97 previously small pulmonary AVMs that had enlarged to a significant size in 28 patients (18%), 15 of whom were symptomatic and 13 of whom were asymptomatic., Conclusions: Clinical and anatomic evaluation after pulmonary AVM embolization is important to detect persistent or reperfused lesions and enlarging lesions, with the latter more common. Patients with persistent, reperfused, or enlarging lesions often have symptoms, but a significant minority of patients are asymptomatic. More frequent assessment may improve detection before the onset of symptoms.

Objectives: Hereditary hemorrhagic telangiectasia is an autosomal dominant disease in which 25% to 30% of patients will develop gastrointestinal bleeding from telangiectases. The extent of telangiectases has not been previously evaluated. This cross-sectional study compared the presence, number, and size of telangiectases in the stomach and duodenum to those in the jejunum using enteroscopy., Methods: At the Yale University Vascular Malformation Center, 30 consecutive, symptomatic adult patients with hereditary hemorrhagic telangiectasia were evaluated using a 220-cm-length enteroscope. The number and size of the telangiectases were documented in the esophagus, proximal and distal stomach, four parts of the duodenum, and every 20 cm in the jejunum. The indication for the procedure was recorded as anemia, gastrointestinal bleeding, or anemia out of proportion to epistaxis., Results: The results of 27 patients were analyzed. A total of 89% of patients had telangiectases in the first 60 cm of the jejunum. In individual patients, there was a strong correlation between the number of telangiectases in the stomach/duodenum when compared with the jejunum. In group analysis, the median number of telangiectases in the stomach and duodenum was significantly higher than in the jejunum (13 vs. 3; Wilcoxon signed rank test, P = 0.001). The presence of large (> or =5 mm) telangiectases in the stomach/duodenum did not necessarily indicate that there would be large telangiectases in the jejunum., Conclusions: The presence and number of stomach and duodenal telangiectases correlated with the presence and number of jejunal ones. However, the occurrence of large proximal telangiectases was not associated with large distal ones.

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.

Objective: To describe outcomes of transcatheter embolotherapy (TCE) in children with pulmonary arteriovenous malformations (PAVMs)., Study Design: Chart and imaging review of all children (age

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.

Purpose: To describe the angiographic features of hepatic involvement in hereditary hemorrhagic telangiectasia (HHT), particularly the presence of portovenous shunts., Methods: We reviewed the angiographic findings of seven patients with HHT. The patients comprised three women and four men with a mean age of 51 years., Results: Intrahepatic telangiectasias were found in all seven patients and shunts between three vascular channels were found in six of seven patients. In the four patients who had portovenous shunts combined with arterioportal shunts, the portovenous shunts were large. Three patients had no portovenous shunts. Two of these patients had arteriovenous shunts, and one had no shunt. The mean age (69 years) of the patients with portovenous shunts was older than those without portovenous shunts (26 years)., Conclusions: Hepatic vascular lesions in HHT are varied, ranging from telangiectasias to large shunts between three vascular channels. In an advanced stage of involvement, large portovenous shunts are present.

Objective: Our aim was to report our experience with treating GI bleeding in patients with hereditary hemorrhagic telangiectasia (HHT)., Methods: Consecutive patients with GI bleeding referred to the Yale University Vascular Malformation Center underwent clinical evaluation and endoscopy. Hb and blood transfusion requirements for 1 yr before and after evaluation were documented. Patients with a mean Hb or= 12 units packed red blood cells (PRBC)/yr were defined as patients with significant bleeding. Drug therapies, including ethinyl estradiol/norethindrone, danazol, and aminocaproic acid, were prescribed on an individual patient basis., Results: The study included 43 HHT patients with a mean age of 57 yr. Endoscopy revealed telangiectases in the esophagus (1/41), stomach (33/41), duodenum (33/41), jejunum (5/9), and colon (10/32). Patients with > 20 telangiectases visualized on esophagogastroduodenoscopy had a significantly lower mean Hb of 7.9, compared with 9.4 (p = 0.007), and a trend toward higher blood transfusion requirements. Non-HHT-related causes of GI bleeding were diagnosed in four patients. During a mean follow up of 18.9 months, the group of 40 patients with HHT-related bleeding had improvements in their mean Hb and blood transfusion requirements., Conclusions: Some HHT patients with GI bleeding improve on drug therapies, but others fail. Transfusion-dependent GI bleeding is difficult to manage, and optimal management may include both medical and endoscopic treatments.

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.