International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

BACKGROUND: HHT is an autosomal dominant disease with an estimated prevalence of at least 1/5000 which can frequently be complicated by the presence of clinically significant arteriovenous malformations in the brain, lung, gastrointestinal tract and liver. HHT is under-diagnosed and families may be unaware of the available screening and treatment, leading to unnecessary stroke and life-threatening hemorrhage in children and adults. OBJECTIVE: The goal of this international HHT guidelines process was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of HHT-related complications and treatment of symptomatic disease. METHODS: The overall guidelines process was developed using the AGREE framework, using a systematic search strategy and literature retrieval with incorporation of expert evidence in a structured consensus process where published literature was lacking. The Guidelines Working Group included experts (clinical and genetic) from eleven countries, in all aspects of HHT, guidelines methodologists, health care workers, health care administrators, HHT clinic staff, medical trainees, patient advocacy representatives and patients with HHT. The Working Group determined clinically relevant questions during the pre-conference process. The literature search was conducted using the OVID MEDLINE database, from 1966 to October 2006. The Working Group subsequently convened at the Guidelines Conference to partake in a structured consensus process using the evidence tables generated from the systematic searches. RESULTS: The outcome of the conference was the generation of 33 recommendations for the diagnosis and management of HHT, with at least 80% agreement amongst the expert panel for 30 of the 33 recommendations.

Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary arteriovenous malformations.

Pulmonary arteriovenous (A-V) malformation is frequently a manifestation of Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia). We identified 14 patients (9 men and 5 women) with A-V malformation by contrast echocardiography; 10 patients with atrial right-to-left shunt served as control subjects. Agitated saline solution (10 ml) was injected through a peripheral vein during echocardiographic imaging. The delay in the appearance of microcavitations in the left atrium was measured (in number of frames) after right atrial appearance. The degree of left ventricular opacification was graded 1 to 4+ (where 4+ = intense left ventricular endocardial outline, and 1+ = minimal opacification). Results indicated patients with A-V malformation had a significant delay (p less than 0.001) in left atrial appearance of microcavitations compared with those with atrial right-to-left shunt (66 +/- 27 vs 21 +/- 7 frames, mean +/- 1 standard deviation). In the group with A-V malformation, abnormal blood gases were present in only 6 of 14 patients and chest x-ray was positive in 7. Pulmonary angiography was performed in 11 of 14 patients with positive contrast echocardiography, and all 11 had A-V malformation identified. In patients with 3 to 4+ left ventricular opacification (n = 8), large (greater than 5 mm feeding vessel) or multiple malformations were present, whereas patients with small or isolated malformation had 1 to 2+ left ventricular opacification. Balloon occlusion of malformations was performed in all 11 of these patients; repeat contrast echocardiography revealed significant diminution of right-to-left shunt in 9, and 2 required repeat embolotherapy for an additional previously undetected A-V malformation.(ABSTRACT TRUNCATED AT 250 WORDS)

High-output congestive heart failure following transjugular intrahepatic portal-systemic shunting.

A hyperdynamic circulatory state with elevated cardiac output, decreased peripheral vascular resistance, and sodium retention occurs in patients with portal cirrhosis. Surgical portal-systemic shunts and transjugular intrahepatic portal-systemic shunts (TIPS) have been shown to worsen the high-output state in these patients. However, clinical evidence of high-output congestive heart failure has been reported only rarely to complicate cirrhosis. We describe a patient who developed high-output congestive heart failure with markedly elevated filling pressures after TIPS and had complete resolution of heart failure after liver transplantation.

Prospective study of provocative angiograms to localize functional islet cell tumors of the pancreas.

BACKGROUND: Controversy exists concerning the use of preoperative imaging studies in patients with islet cell tumors. Since 1993 we have evaluated the use of provocative angiography in patients with insulinoma or Zollinger-Ellison syndrome (ZES). METHODS: Twelve patients with a working diagnosis of insulinoma (n = 4) or ZES (n = 8) were studied. Of the eight patients with ZES, four were known to have multiple endocrine neoplasia type 1. All patients underwent conventional imaging studies followed by provocative angiography. Angiograms were graded based on the ability to detect tumor and regionalize it within the pancreas. RESULTS: Of the three patients with a working diagnosis of ZES but equivocal results of biochemical studies, none had arteriographic imaging of an islet cell tumor or a positive provocative study result (true negative result). Of the nine patients with documented islet cell tumor, seven (78%) underwent arteriographic imaging of the tumor and eight (89%) had correct regional localization by provocative angiography. Sensitivity and specificity for imaging were 78% and 100%, respectively, and for regional localization 89% and 100%, respectively. CONCLUSIONS: Provocative angiography is the localization study of choice for both gastrinoma and insulinoma. Having few false-negative results, it can be used to corroborate the diagnosis and, having few false-positive results, it detects tumor and biochemically confirms localization in nearly every patient.

Intrahepatic portosystemic vascular stents: a bridge to hepatic transplantation.

Refractory esophageal variceal hemorrhage (EVH) remains a formidable problem in patients awaiting liver transplantations. Transjugular intrahepatic portosystemic shunts (TIPS) have provided an alternative approach for managing EVH that may obviate the need for portosystemic shunt surgery. Experience with TIPS placement and subsequent successful hepatic transplantation in patients without previous portosystemic shunt surgery has not been previously reported. Two patients are reported who underwent TIPS placement and subsequent successful hepatic transplantation without previous portosystemic shunt surgery. This experience indicates that (1) TIPS can provide effective control of EVH for at least several weeks, (2) TIPS placement decreases portal hypertension, thus facilitating technical performance of the transplant procedure and minimizing blood loss, (3) TIPS may undergo vascular incorporation, thus requiring that they be accurately positioned so that the lengths of suprahepatic inferior vena cava and portal vein are not compromised at the time of transplantation, (4) TIPS thrombosis can be effectively treated and prolonged patency may be observed, and (5) deterioration in hepatic function and exacerbation of hepatic encephalopathy were not observed after TIPS placement. In summary, TIPS provide an attractive, effective means for managing refractory EVH in patients awaiting liver transplantation.

Angiographic arterial embolization to control hemorrhage in abdominal pregnancy: a case report.

A case is described in which heavy postoperative bleeding from the placental bed after removal of the fetus in an abdominal pregnancy was managed by selective arterial embolization of the placental vascular bed. Selective angiographic embolization is a useful tool in both obstetric and gynecologic complications when hemorrhage fails to respond to other modes of therapy.

Subcutaneous urinary diversion utilizing a nephrovesical stent: a superior alternative to long-term external drainage?

OBJECTIVES: The use of external percutaneous nephrostomy drainage in patients with end-stage ureteral obstruction in whom ureteral stenting has failed presents significant compromises in the patient's quality of life. Toward this end, we present the initial experience in the United States with an intracorporeal nephrovesical stent. METHODS: We performed successful subcutaneous urinary diversion in 2 patients with malignant, metastatic periureteral obstruction. Both patients had previously been managed with a chronic percutaneous nephrostomy that was both painful and inconvenient. The nephrovesical stent was inserted utilizing percutaneous access to both the kidney and bladder followed by creation of a subcutaneous tunnel between the two sites. RESULTS: The nephrovesical stents are patent at 6 and 9 weeks postoperatively and both patients have had their nephrostomy tubes removed. Both patients have noted a marked improvement in their overall comfort and quality of life since the stent has been in place. CONCLUSIONS: Subcutaneous urinary diversion with a nephrovesical stent provides effective urinary drainage and may improve the quality of life of patients with malignant metastatic ureteral obstruction. Further long-term studies are needed.

Ureterorenoscopic endopyelotomy. Preliminary report.

In conclusion, the concept of endopyelotomy remains extremely attractive, and the early results appear promising. However, the methodology appears to be far in advance of the actual science. Objective studies with furosemide washout renography or Whitaker tests prior to endopyelotomy and at 1 year following endopyelotomy are lacking. Currently, because of its less-invasive nature, lack of external catheters, and rapid convalescence, we are continuing to use a ureteroscopic approach to endopyelotomy. However, although this method overall represents a less-invasive approach, the reader is cautioned to keep in mind that our patient series is too small and the follow-up is too brief for any conclusions to yet be drawn in favor of this method.

Intracorporeal biliary lithotripsy.

Most bile duct calculi can be removed with standard percutaneous or endoscopic techniques. Very large stones are the most common cause for failure. Intracorporeal lithotripsy, and EHL in particular, can be used safely in either the biliary tree or gallbladder to fragment these large stones and allow percutaneous removal or passage. Intracorporeal EHL requires direct vision to prevent damage to the bile duct mucosa. Intracorporeal laser lithotripsy may offer some safety advantages, but the laser requires much more expensive equipment than intracorporeal EHL. Additional studies are needed to determine the technique that is better in each circumstance.

Results of a new strategy for reconstruction of biliary injuries having an isolated right-sided component.

Poor results after repair of biliary injuries are most common when injuries are above the bifurcation of the left and right hepatic ducts or involve aberrant ducts. We have developed a novel approach to the right-sided component of such injuries. Preoperatively all isolated sections of the biliary tree are intubated percutaneously. At surgery the left duct is found by the Hepp-Couinaud approach. Dissection is continued to the right, staying within the coronal plane of the left hepatic duct, and continuing across the gallbladder plate into segment 5 between the hepatic parenchyma and the Wallerian sheath of the right portal pedicle. Hepatic parenchyma, anterior to the sheath, is resected. After a length of portal pedicle is exposed, right-sided bile ducts are opened on their anterior surface, using the percutaneous transhepatic stents as a guide, and hepaticojejunostomy is performed. Twenty-three patients were treated from May 1993 to February 1999. Injury types and (number of patients) were as follows: B (n = 2), C (n = 5), E4 (n = 10), and E5 (n = 6). There were no perioperative deaths. Follow-up ranged from 8 months to 7 years (median 3 years). There have been no cases of restricture, reoperation, or jaundice, and no interventional procedures. Serum bilirubin is normal in all patients. Alkaline phosphatase is normal or less than two times the normal value in 21 of 22 living patients. This novel approach brings the benefits of the Hepp-Couinaud approach to the right hepatic ducts. Very satisfactory results were obtained in the most severe types of biliary injury.

Diagnosis and management of biliary complications of laparoscopic cholecystectomy.

Laparoscopic cholecystectomy has become the operation of choice for symptomatic cholelithiasis. However, this operation may result in serious biliary complications. Our aims were to review our experience with biliary complications of laparoscopic cholecystectomy and to document the mechanisms of the injuries and the techniques of managing these complications. We treated 20 patients with biliary complications of laparoscopic cholecystectomy. Symptomatic collections of bile (bilomas) were present in five patients. One of these patients underwent operative ligation of an accessory bile duct in the gallbladder bed, whereas the others had percutaneous or endoscopic therapy. In the remaining 15 patients (of whom 13 were referred from other hospitals), injuries to the major bile ducts were managed by combined radiologic, endoscopic, and operative therapies. In 10 of these patients (67%), the mechanism of injury was the misidentification of the common bile duct as the cystic duct. In 3 of 15 patients, a noncircumferential injury to the lateral aspect of the common bile duct occurred. The Bismuth levels of the remaining bile duct injuries were type I in 3, type II in 4, type III in 3, and type IV in 2. Early outcome of therapy for these bile duct injuries has been favorable. One patient was lost to follow-up, and 2 died of nonbiliary causes, whereas 12 patients are alive and well with normal serum liver enzyme levels at 4 to 19 months postoperatively (mean: 14 months). The most common cause of major bile duct injury during laparoscopic cholecystectomy is mistaking the common bile duct for the cystic duct. Most bilomas can be managed successfully with noninvasive methods. Coordinated efforts by radiologists, endoscopists, and surgeons are necessary to optimize the management of patients with major bile duct injury, suggesting that patients with biliary complications of laparoscopic cholecystectomy should be referred to specialty centers for optimal care.

Endovascular stent grafts for aneurysmal and occlusive vascular disease.

BACKGROUND: This report details our initial experience with two types of endovascular grafts- one for the treatment of infrarenal abdominal aortic aneurysms and the other for the treatment of iliac artery occlusive disease. METHODS: An abdominal aortic aneurysm was repaired in 34 patients using 3 different types of Ancure endografts (Menlo Park, California). Control patients (n = 9) had a standard aneurysm repair. Patients with chronic lower extremity ischemia (n = 7) secondary to iliac artery occlusive disease were treated with a Hemobahn endograft (W. L. Gore & Associates, Flagstaff, Arizona). RESULTS: Ancure graft deployment was achieved in 33 of 34 (97.1%) patients. Perioperative mortality for the Ancure and control group patients was 2.9% and 0%, respectively. Periprosthetic leaks were identified within 48 hours of deployment in 6 (18.2%) Ancure graft patients. All but 2 of the leaks resolved on serial follow-up. Additional endovascular procedures were required in 11 (32.4%) Ancure graft patients at the initial procedure or during follow-up to correct graft or arterial stenoses. Patients treated with an endovascular graft had significantly less blood loss and shorter hospital stays than control group patients. For Hemobahn patients, the technical success for graft deployment was 100%. There were no perioperative deaths. The ankle/brachial index increased from a mean of 0.52 preoperatively to 0.86 postoperatively (P = 0.004). One patient required a Wallstent in follow-up to correct a graft wrinkle. Angiography at 6 months demonstrated mild intimal hyperplasia in the stent graft in 5 of 6 patients. CONCLUSIONS: These early results support the potential for endovascular grafts in the treatment of aneurysmal and occlusive vascular disease. Further modifications in the devices and deployment techniques are necessary to reduce the incidence of periprosthetic leaks, graft limb stenoses, and intimal hyperplasia.

Percutaneous biliary endoscopy.

The development of small-diameter flexible endoscopes has expanded the role of biliary endoscopy to include percutaneous interventions. Percutaneous biliary endoscopy is a technique that is easily learned. The equipment for percutaneous biliary endoscopy is readily available since most hospitals have an appropriate-sized choledochoscope and light source for intraoperative use. Therefore, the initial capital costs associated with flexible biliary endoscopy are minimal. Percutaneous biliary endoscopy in the interventional radiology suite is an ideal arrangement to facilitate a wide variety of biliary diagnostic and interventional procedures.

Delayed rupture of a pseudoaneurysm of the costocervical trunk: treatment with therapeutic embolization.

Fourteen days after removal of an internal jugular catheter inserted prior to renal transplantation, a patient presented with brisk arterial hemorrhage from the insertion site. The hemorrhage, caused by a ruptured pseudoaneurysm of the costocervical trunk, was controlled by transcatheter embolization with gelatin particles. One year later the patient reported no problems related to the pseudoaneurysm or its management.

Magnetic resonance imaging of the female pelvis.

Magnetic resonance (MR) imaging is particularly well suited for the evaluation of the female pelvis because of the lack of respiratory motion and the multiplanar imaging ability of MR. The MR appearance of normal anatomy is dependent on the pulse sequence used. This is also true for pelvic pathology. Primary cervical carcinoma is best seen on T2-weighted images; parametrial extension and lymph node metastases are best evaluated on T1-weighted images. Endometrial carcinoma is also best seen on T2-weighted images. Absence of the junctional low intensity band of the uterus may indicate myometrial invasion by endometrial tumor, although more data are needed to make a final diagnosis. Uterine leiomyomata have a variable MR appearance which may be related to the degree of cellularity of the tumor. Our experience in the MR appearance of adnexal masses is limited. MR imaging should assume a more important role in imaging the female pelvis in the future.

Perforated appendix presenting with severe diarrhea. Findings on barium-enema examination.

Severe diarrhea and marked lower abdominal cramps are unusual manifestations of appendicitis. The authors performed a barium-enema examination (BE) on 9 pediatric patients who were ultimately shown to have a perforated appendix and pelvic abscesses. In 8 cases, the atypical symptoms initially led to an incorrect clinical diagnosis. In all 9, the BE demonstrated extensive inflammatory changes of the rectosigmoid colon, caused by the surrounding pelvic infection. Recognizing this clinical and radiographic association could lead to earlier diagnosis and treatment.