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Case description: Five-year-old female patient with hereditary hemorrhagic telangiectasia.Clinical Findings:  Deterioration of cardiopulmonary function with higher oxygen requirements secondary to pulmonary arteriovenous shunts, epistaxis.Treatment and Outcome: The patient was treated with the monoclonal antibody bevacizumab, which inhibits the vascular endothelial growth factor, with good clinical outcome.Clinical Relevance: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by arteriovenous malformations in different organs, making its clinical presentations varied. Systemic therapeutic options for a generalized disease are limited. The monoclonal antibody bevacizumab, seems to be a good option in this disorder. Although reported as successful in adult population, its use in pediatric population has not yet been reported. Here we report the use of bevacizumab in a 5-year-old female patient with hereditary hemorrhagic telangiectasia, showing clinical benefits and good outcome.

Fabio E Ospina, -Fundación Valle del Lili, Cali, Colombia. -Universidad Icesi. Cali, Colombia.

-Instituto de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia.

- Departamento de Reumatologia, Grupo de Investigación en Reumatología, Autoinmunidad y Medicina Traslacional (GIRAT). Fundación Valle del Lili, Cali, Colombia.

-Facultad de Ciencias de la Salud, Universidad Icesi. Cali, Colombia.

Alex Echeverri, -Departamento de Reumatologia, Grupo de Investigación en Reumatología, Autoinmunidad y Medicina Traslacional (GIRAT). Instituto de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia. -Departamento de Reumatologia, Grupo de Investigación en Reumatología, Autoinmunidad y Medicina Traslacional (GIRAT). Fundación Valle del Lili, Cali, Colombia. Fundación Valle del Lili, Cali, Colombia.

Instituto de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia.2 Departamento de Reumatologia, Grupo de Investigación en Reumatología, Autoinmunidad y Medicina Traslacional (GIRAT). Fundación Valle del Lili, Cali, Colombia.

Iván Posso-Osorio, -Instituto de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia. -Departamento de Reumatologia, Grupo de Investigación en Reumatología, Autoinmunidad y Medicina Traslacional (GIRAT). Fundación Valle del Lili, Cali, Colombia. -Facultad de Ciencias de la Salud, Universidad Icesi. Cali, Colombia.

-Instituto de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia.-Departamento de Reumatologia, Grupo de Investigación en Reumatología, Autoinmunidad y Medicina Traslacional (GIRAT). Fundación Valle del Lili, Cali, Colombia.-Facultad de Ciencias de la Salud, Universidad Icesi. Cali, Colombia.

Lina Jaimes, Fundación Valle del Lili, Cali, Colombia.

-Departamento de Pediatría, Fundación Valle del Lili, Cali, Colombia.

Jaiber Gutierrez, Fundación Valle del Lili, Cali, Colombia.

-Departamento de Pediatría, Fundación Valle del Lili, Cali, Colombia.

Gabriel Jaime Tobón, -Fundación Valle del Lili, Cali, Colombia. -Universidad Icesi. Cali, Colombia.

-Instituto de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia.

-Facultad de Ciencias de la Salud, Universidad Icesi. Cali, Colombia.

Ospina, F. E., Echeverri, A., Posso-Osorio, I., Jaimes, L., Gutierrez, J., & Tobón, G. J. (2017). Bevacizumab as a treatment for hereditary hemorrhagic telangiectasia in children: a case report. Colombia Medica, 48(2), 88–93. https://doi.org/10.25100/cm.v48i2.2719

Shovlin CL. Hereditary haemorrhagic telangiectasia pathophysiology, diagnosis and treatment. Blood Rev. 2010; 24: 203–19.

Dupuis-Girod S, Bailly S, Plauchu H. Hereditary hemorrhagic telangiectasia from molecular biology to patient care. J Thromb Haemost. 2010; 8: 1447–56.

Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia a clinical and scientific review. Eur J Hum Genet. 2009; 17: 860–71.

Kjeldsen AD, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol. 2000; 95: 415–8.

Cottin V, Plauchu H, Bayle J-Y, Barthelet M, Revel D, Cordier J-F. Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia. Am J Respir Crit Care Med. 2004; 169: 994–1000.

Buonamico P, Suppressa P, Lenato GM, Pasculli G. D’Ovidio F.Memeo M Liver involvement in a large cohort of patients with hereditary hemorrhagic telangiectasia Echo-color-Doppler vs multislice computed tomography study. J Hepatol. 2008; 48: 811–20.

Krings T, Ozanne A, Chng SM, Alvarez H, Rodesch G, Lasjaunias PL. Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Neuroradiology. 2005; 47: 711–20.

Giordano P, Lenato GM, Suppressa P, Lastella P, Dicuonzo F, Chiumarulo L. Hereditary hemorrhagic telangiectasia arteriovenous malformations in children. J Pediatr. 2013; 163: 173–9.

Al-Saleh S, Mei-Zahav M, Faughnan ME, MacLusky IB, Carpenter S, Letarte M. Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia. Eur Respir J. 2009; 34: 875–81.

Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B. Liver Disease in Patients with Hereditary Hemorrhagic Telangiectasia. N Engl J Med. 2000; 343: 931–6.

Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011; 48: 73–87.

Shovlin CL, Jackson JE, Bamford KB, Jenkins IH, Benjamin AR, Ramadan H. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. 2008; 63: 259–66.

Yaniv E, Preis M, Shevro J, Nageris B, Hadar T. Anti-estrogen therapy for hereditary hemorrhagic telangiectasia - a long-term clinical trial. Rhinology. 2011; 49: 214–6.

Klepfish A, Berrebi A, Schattner A. Intranasal tranexamic acid treatment for severe epistaxis in hereditary hemorrhagic telangiectasia. Arch Intern Med. 2001; 161: 767–9.

Carmeliet P. Angiogenesis in life, disease and medicine. Nature. 2005; 438: 932–6.

Dupuis-Girod S, Ginon I, Saurin J-C, Marion D, Guillot E, Decullier E. Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA. 2012; 307: 948–55.

Mitchell A, Adams LA, MacQuillan G, Tibballs J, vanden Driesen R, Delriviere L. Bevacizumab reverses need for liver transplantation in hereditary hemorrhagic telangiectasia. Liver Transplant. 2008; 14: 210–3.

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) Am J Med Genet. 2000; 91: 66–70.

FDA. Highlights of prescribing information. Avastin (bevacizumab) Solution for intravenous infusion. Genentech; 2004. http://www.accessdata.fda.gov/drugsatfda_docs/label/2014/125085s301lbl.pdf.

Kanellopoulou T, Alexopoulou A. Bevacizumab in the treatment of hereditary hemorrhagic telangiectasia. Expert Opin Biol Ther. 2013; 13: 1315–23.

Suppressa P, Liso A, Sabbà C. Low dose intravenous bevacizumab for the treatment of anaemia in hereditary haemorrhagic telangiectasia. Br J Haematol. 2011; 152: 365.

Fleagle JM, Bobba RK, Kardinal CG, Freter CE. Iron deficiency anemia related to hereditary hemorrhagic telangiectasia response to treatment with bevacizumab. Am J Med Sci. 2012; 343: 249–51.

Young LH, Henderson KJ, White RI, Garcia-Tsao G. Bevacizumab finding its niche in the treatment of heart failure secondary to liver vascular malformations in hereditary hemorrhagic telangiectasia. Hepatology. 2013; 58: 442–5.

Faughnan ME, Thabet A, Mei-Zahav M, Colombo M, Maclusky I, Hyland RH. Pulmonary arteriovenous malformations in children outcomes of transcatheter embolotherapy. J Pediatr. 2004; 145: 826–31.

Faughnan ME, Lui YW, Wirth JA, Pugash RA, Redelmeier DA, Hyland RH. Diffuse pulmonary arteriovenous malformations characteristics and prognosis. Chest. 2000; 117: 31–8.

Pierucci P, Murphy J, Henderson KJ, Chyun DA, White RIJ. New definition and natural history of patients with diffuse pulmonary arteriovenous malformations twenty-seven-year experience. Chest. 2008; 133: 653–61.

Millan NC, Poveda MJ, Cruz O, Mora J. Safety of bevacizumab in patients younger than 4 years of age. Clin Transl Oncol. 2016; 18(5): 464–8.

de Pasquale MD, Castellano A, de Sio L, de Laurentis C, Mastronuzzi A, Serra A. Bevacizumab in pediatric patients how safe is it? Anticancer Res. 2011; 31(11): 3953–7.

Glade Bender JL, Adamson PC, Reid JM, Xu L, Baruchel S, Shaked Y. Phase I trial and pharmacokinetic study of bevacizumab in pediatric patients with refractory solid tumors a Children’s Oncology Group Study. J Clin Oncol. 2008; 26(3): 399–405.

Benesch M, Windelberg M, Sauseng W, Witt V, Fleischhack G, Lackner H. Compassionate use of bevacizumab (Avastin) in children and young adults with refractory or recurrent solid tumors. Ann Oncol Off J Eur Soc Med Oncol. 2008; 19(4): 807–13.

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Received 2016-11-26
Accepted 2017-04-04
Published 2017-06-28