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DOI: 10.1055/s-2004-813549
© Georg Thieme Verlag KG Stuttgart · New York
Doppler Ultrasonographic Grading of Hepatic Vascular Malformations in Hereditary Hemorrhagic Telangiectasia - Results of Extensive Screening
Doppler-sonographische Einteilung der vaskulären Missbildungen in der Leber bei hereditären hämorrhagischen Teleangiektasien - Ergebnisse einer großen Screening-UntersuchungPublication History
eingereicht: 2.6.2004
angenommen: 6.8.2004
Publication Date:
14 September 2004 (online)
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Zusammenfassung
Studienziel: In früheren Arbeiten wurde die Häufigkeit von vaskulären Missbildungen (VMs) in der Leber bei einer Familie mit hereditärer hämorrhagischer Teleangiektasie (HHT) mit der Doppler-Sonographie untersucht. Dabei wurden die entscheidenden Doppler-sonographischen Befunde beschrieben und klassifiziert. Seitdem wird die Doppler-Sonographie routinemäßig als Suchmethode für eine Leberbeteiligung bei Familien mit HHT eingesetzt und die VMs in der Leber Doppler-sonographisch beurteilt und klassifiziert. Methode: 346 Personen aus 64 Familien wurden auf Hinweise einer HHT geprüft und mit abdomineller Doppler-Sonographie auf VMs untersucht. Die vaskulären Veränderungen wurden wie folgt eingeteilt: minimal (bei einer auf den extrahepatischen Verlauf beschränkten Erweiterung der A. hepatica von mehr als 6 mm); mäßig (bei einer Erweiterung der A. hepatica im intra- und extrahepatischen Verlauf); und schwer (bei komplexen Veränderungen des Gefäßsystems der A. hepatica zusammen mit Erweiterung der Lebervenen und/oder Pfortader). Ferner wurden sowohl qualitative (Blutflussrichtung, Turbulenz) als auch quantitative (maximale Blutflussgeschwindigkeit und Widerstandsindex in der A. hepatica, durchschnittliche Blutflussgeschwindigkeit in der Pfortader, maximale distolische Blutflussgeschwindigkeit in den Lebevenen) Doppler-Werte in unserer Klassifikation der VMs berücksichtigt. Ergebnisse: Eine HHT wurde bei 222 Personen festgestellt. Die Doppler-Sonographie konnte bei 92 (41 %) Personen (24 Männer, 68 Frauen, Durschschnittsalter 52,2 Jahre) VMs in der Leber nachweisen. Die VMs waren bei 11 Personen minimal, bei 70 mäßig und bei 11 schwer. Schlussfolgerung: Mithilfe unserer vorgeschlagenen Doppler-sonographischen Einteilung können VMs in der Leber bei Personen mit HTT einfach klassifiziert werden. Entsprechende Folgeuntersuchungen und Behandlungen, die das Ausmaß der Gefäßveränderungen in der Leber berücksichtigen, können entwickelt werden.
Abstract
Aims: In previous studies, the prevalence of hepatic vascular malformations (VMs) in a large Italian family with hereditary hemorrhagic telangiectasia (HHT) was examined by Doppler ultrasonography (US) as screening technique, and the relevant Doppler US findings were described and classified. Thereafter, Doppler US has been routinely used to screen HHT families for liver involvement. Hepatic VMs were evaluated and classified on the basis of Doppler US findings. Methods: Three hundred and forty-six subjects belonging to 64 pedigrees were checked for the presence of signs of HHT. All of them underwent abdominal Doppler US screening for hepatic VMs. Vascular abnormalities were classified as minimal if the hepatic artery was dilated in extrahepatic tract only and measured > 6 mm; as moderate if the hepatic artery was dilated in both intra and extrahepatic tract; and as severe if complex changes of the arterial hepatic branches were associated with hepatic and/or portal vein dilatation. Furthermore, Doppler parameters, both qualitative (flow direction, turbulence) and quantitative (peak flow velocity and resistivity index in hepatic artery, mean velocity in portal vein, diastolic peak flow velocity in hepatic veins), were entered into our VM classification. Results: HHT was found in 222 subjects, with hepatic VMs detected by Doppler US in 92 (41.4 %) (24 males, 68 females, mean age 52.2). Hepatic VMs were minimal in 11 subjects, moderate in 70, and severe in 11. Conclusions: On the basis of our proposed grading, hepatic VMs can be easily classified in subjects with HHT by Doppler US. Depending on the degree of hepatic vascular derangement, appropriate programs for follow up and/or therapy can be designed.
Schlüsselwörter
Hereditäre hämorrhagische Teleangiektasie - Leber - Gefäßmissbildungen - Doppler-Sonographie - Klassifikation
Key words
Hereditary hemorrhagic telangiectasia - liver - vascular malformations - doppler ultrasonography - grading
References
- 1 McKusick V A. Telangiectasia, Hereditary Hemorrhagic, or Rendu, Osler and Weber. In: Mendelian inheritance in man; catalog of autosomal dominant, autosomal recessive, and X-linked phenotypes. 11th Edition. Baltimore; The John Hopkins University Press 1994: 1422
- 2 Bideau A, Plauchu H, Brunet G. et al . Etude épidémiologique de la maladie de Rendu Osler en France: répartition géographique et prévalence. Population. 1989; 1 9-28
- 3 McDonald M T, Papenberg K A, Ghosh S. et al . A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33 - 34. Nat Genet. 1994; 6 197-204
- 4 Johnson D W, Berg J N, Baldwin M A. et al . Mutations in the activin receptor-like kinase 1 gene in hereditary hemorrhagic telangiectasia. Nat Genet. 1996; 13 189-195
- 5 Plauchu H, de Chadarevian J P, Bideau A. et al . Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet. 1989; 32 291-297
- 6 Shovlin C L, Guttmacher A E, Buscarini E. et al . Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Sindrome). Am J Med Genet. 2000; 91 675-678
- 7 Reilly P J, Nostrant T T. Clinical manifestation of hereditary hemorrhagic telangiectasia. Am J Gastroenterol. 1984; 79 363-367
- 8 Cloogman H M, Di Capo R D. Hereditary hemorrhagic telangiectasia: sonographic findings in the liver. Radiology. 1984; 150 521-522
- 9 Goes E, Van Tussenbroeck F, Cottenie F. et al . Osler’s disease diagnosed by ultrasound. J Clin Ultrasound. 1987; 15 129-131
- 10 Vilgrain V, Menu Y, Nahum H. Doppler sonography in Osler-Weber-Rendu disease. AJR. 1991; 157 413-414
- 11 Pompili M, Rapaccini G L, Marzano M A. et al . Doppler ultrasound findings in Osler-Weber-Rendu disease with hepatic involvement: a case report. Ital J Gastroenterol. 1994; 26 83-85
- 12 Ralls P W, Johnson M B, Radin R D. et al . Hereditary hemorrhagic telangiectasia: findings in the liver with color Doppler sonography. AJR. 1992; 159 59-61
- 13 Buscarini E, Buscarini L, Civardi G. et al . Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: imaging findings. AJR. 1994; 163 1105-1110
- 14 Buscarini E, Buscarini L, Danesino C. et al . Hepatic vascular malformations in hereditary hemorrhagic telangiectasia - Doppler sonographic screening in a large family. J Hepatol. 1997; 26 111-118
- 15 Naganuma H, Ishida H, Niizawa M. et al . Hepatic involvement in Osler Weber Rendu disease: findings on pulsed and color Doppler sonography. AJR. 1995; 165 1421-1425
- 16 OzdemirH, Ilgit E T, Konus O. et al . Hepatic color Doppler sonography for hereditary hemorrhagic telangiectasia. Abdomin Imaging. 1996; 21 501-503
- 17 Chou Y H, Tiu C M, Chiou H j. et al . Hereditary hemorrhagic telangiectasia: hepatic lesions demonstrated with color Doppler and power Doppler sonography. Eur J Radiol. 2000; 34 52-56
- 18 Caselitz M, Bahr M J, Bleck J S. et al . Sonographic criteria for the diagnosis of hepatic involvement in hereditary hemorrhagic telangiectasia (HHT). Hepatology. 2003; 37 1139-1146
- 19 Bombelli L, Genitoni V, Biasi S. et al . Liver hemodynamic flow balance by image-directed Doppler ultrasound evaluation in normal subjects. J Clin Ultrasound. 1991; 19 257-262
- 20 Joynt L K, Platt J F, Rubin J M. et al . Hepatic artery resistance before and after standard meal in subjects with diseased and healthy livers. Radiology. 1995; 196 489-492
- 21 Braverman I M, Keh A, Jacobson B S. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Derm. 1990; 95 422-427
- 22 Benhamou J P. Maladie de Rendu-Osler ou telangiectasie hereditaire hemorragique. Benhamou JP, Erlinger S Maladies du foie et des voies biliaires Paris; Flammarion Medecine Sciences 1990: 124
- 23 Bernard G, Mion F, Henry L. et al . Hepatic involvement in hereditary hemorrhagic telangiectasia: clinical, radiological, and hemodynamic studies of 11 cases. Gastroenterology. 1993; 105 482-487
- 24 Hutin J F, Grenier N, Schmitt N. et al . Angioscanner de l’angiomatose hepatique dans la maladie de Rendu-Osler. A propos de trois cas. J Radiol. 1989; 70 621-627
- 25 Varma D GK, Schoenberger S C, Kumra A. et al . Osler-Weber-Rendu disease: MR findings in the liver. J Comput Assist Tom. 1989; 13 134-135
- 26 Stabile I anora AA, Memeo M, Sabbà C. et al . Hereditary hemorrhagic telangiectasia: multi-detector row helical CT assessment of hepatic involvement. Radiology. 2004; 230 250-259
- 27 Schantz P M, Wang H, Qiu J. et al . Echinococcosis on the Tibetan Plateau: prevalence and risk factors for cystic and alveolar echinococcosis in Tibetan populations in Qinghai Province, China. Parasitology. 2003; 127 109-120
- 28 Attili A F, Capocaccia R, Carulli N. et al . Factors associated with gallstone disease in the MICOL experience. Multicenter Italian Study on Epidemiology of cholelithiasis. Hepatology. 1997; 26 809-818
- 29 Bolondi L, Li B assi S, Gaiani S. et al . Liver cirrhosis: changes of Doppler waveform of hepatic veins. Radiology. 1991; 178 513-516
- 30 Lafortune M, Patriquin H. The hepatic artery. Studies using Doppler sonography. Ultrasound Quarterly. 1999; 15 9-26
- 31 Wing V W, Laing F C, Jeffrey R B. et al . Sonographic differentiation of enlarged hepatic arteries from dilated intrahepatic bile ducts. AJR. 1985; 145 57-61
- 32 Ocran K, Rickes S, Heukamp I. et al . Sonographic findings in hepatic involvement of hereditary hemorrhagic telangiectasia. Ultraschall Med. 2004; 25 191-194
- 33 Sabbà C, Pasculli G, Cirulli A. et al . Rendu-Osler-Weber disease: experience with 56 patients. Ann Ital Med Int. 2002; 17 173-179
- 34 Garcia-Tsao G, Korzenik J, Young L. et al . Liver disease in patients with hereditary hemorrhagic telangiectasia. NEJM. 2000; 343 931-936
- 35 Bourgeois N, Delcour C, Deviere J. et al . Osler-Weber-Rendu disease associated with hepatic involvement and high output heart failure. J Clin Gastroent. 1990; 12 236-237
- 36 Nikolopoulos N, Xynos E, Vassilakis J S. Familial occurrence of hyperdynamic circulation status due to intrahepatic fistulae in hereditary hemorrhagic telangiectasia. Hepatogastroenterol. 1988; 35 167-168
- 37 Buscarini E, Garbagnati F, Lanocita R. et al . Repeated transarterial embolization of liver arteriovenous malformations in a case of hereditary hemorrhagic telangiectasia. J Intervent Radiol. 1995; 10 103-106
- 38 Jackson J E. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: treatment with embolization. Radiology. 1999; 213 927-928
- 39 Bauer T, Britton P, Lomas D. et al . Liver transplantation for hepatic arteriovenous malformation in hereditary hemorrhagic telangiectasia. J Hepatol. 1995; 22 586-590
- 40 Boillot O, Bianco F, Viale J P. et al . Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement. Gastroenterology. 1999; 116 187-192
- 41 Whiting J H, Morton K A, Datz F L. et al . Embolization of hepatic arteriovenous malformations using radiolabeled and nonradiolabeled polyvinyl alcohol sponge in a patient with hereditary hemorrhagic telangiectasia: case report. J Nucl Med. 1992; 33 260-262
- 42 Miller F J, Whiting J H Jr, Korzenik J R. et al . Caution with use of hepatic embolization in the treatment of hereditary hemorrhagic telangiectasia (letter). Radiology. 1999; 213 928-930
- 43 Porteous M EM, Burn J, Proctor S J. Hereditary hemorrhagic telangiectasia: a clinical analysis. J Med Genet. 1992; 29 527-530
Elisabetta Buscarini
Gastroenterology Department
Ospedale Maggiore
Via Macallé 1
26013 Crema
Italy
Phone: ++ 39/03 73/28 03 20
Fax: ++ 39/03 73/28 06 54
Email: ebuscarini@rim.it