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Colegio de Medicina Interna de México.

2021, Number 1

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Med Int Mex 2021; 37 (1)

Asymptomatic pulmonary arteriovenous malformations in a woman with Osler- Weber-Rendu syndrome and severe anemia

Fajardo-Rivero JE, Rangel-Rivera DA, Sarmiento-Villamizar DF, Zapata-Rozo JR, Sierra-Bossa LD

Language: Spanish
References: 29
Page: 128-134
PDF size: 342.97 Kb.


ABSTRACT

Background: Weber-Osler-Rendu syndrome or hereditary hemorrhagic telangiectasia is an autosomal dominant family disorder with two different forms, these are determined by the genes involved (HHT1 or HHT2), which are regulators of angiogenesis. It is characterized by epistaxis, telangiectasias in the oral mucosa, lips and fingertips, and by arteriovenous malformations predisposing to embolic and hemorrhagic phenomena, potentially fatal when there is pulmonary, hepatic or cerebral involvement; other findings are gastrointestinal hemorrhage and iron deficiency anemia.
Clinical cases: A 58-year-old female patient, Jehovah’s witness, who consulted for asthenia, adynamia and progressive hyporexia with palmoplantar pallor associated with lipothymia. She reported spontaneous epistaxis with a family history. She had history of anemia without studies, there were telangiectasias in her tongue and upper and lower limbs. Hypochromic microcytic anemia with regenerative profile that confirmed iron deficiency was found; through the chest radiographs lung lesions were observed and they were later cataloged, by using contrast-enhanced chest scans, as arteriovenous malformations, which were asymptomatic and did not present complications.
Conclusions: In some cases, visceral arteriovenous malformations are not detected before complications appear, which implies a decrease in the quality and life expectancy of the patients. The clinical findings in the patient agreed with those reported in the literature, including epistaxis as the most common symptom.


REFERENCES

  1. Kjeldsen AD, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2000; 95(2): 415-8. doi. 10.1111/j.1572- 0241.2000.01792.x.

  2. Di Cosola M, Cazzolla AP, Scivetti M, Testa NF, et al. Síndrome de Rendu-Osler-Weber o telangiectasia hemorrágica hereditaria (HHT): descripción de dos casos y revisión de la literatura. Av Odonotoestomatol 2005; 21 (6): 297-303.

  3. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 1994; 6:197- 204. doi. 10.1038/ng0294-197.

  4. Wain KE, Ellingson MS, McDonald J, Gammon A, et al. Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. Genet Med. 2014; 16 (8): 588-93. doi. 10.1038/gim.2014.5.

  5. McDonald J, Pyeritz RE. Hereditary hemorrhagic telangiectasia. 2000 Jun 26 [Updated 2017 Feb 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/ books/NBK1351/.

  6. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91 (1):66-7. doi. 10.1002/(sici)1096- 8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p.

  7. Kjeldsen A, Oxhoj H, Andersen P, Green A, et al. Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT). J Intern Med 2000; 248: 255-62. doi. 10.1046/j.1365- 2796.2000.00725.x.

  8. Burke CM, Safai C, Nelson DP, Raffin TA. Pulmonary arteriovenous malformations: a critical update. Am Rev Respir Dis 1986; 134 (2): 334-9. doi. 10.1164/arrd.1986.134.2.334.

  9. Geisthoff UW, Nguyen HL, Röth A, Seyfert U. How to manage patients with hereditary haemorrhagic telangiectasia. Br J Haematol 2015; 171 (4): 443-52. https://doi.org/10.1111/ bjh.13606.

  10. Pelage JP, Lagrange C, Chinet T, El Hajjam M, et al. Embolization of localized pulmonary arteriovenous malformations in adults. J Radiol 2007; 88: 367-76. doi. 10.1016/s0221- 0363(07)89833-7.

  11. Lacombe P, Lagrange C, Beauchet A, El Hajjam M, et al. Diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: long-term results of embolization according to the extent of lung involvement. Chest 2009; 135 (4): 1031-7. doi. 10.1378/chest.08-1794.

  12. Faughnan ME, Lui YW, Wirth JA, Pugash RA, et al. Diffuse pulmonary arteriovenous malformations: characteristics and prognosis. Chest 2000; 117 (1): 31-8. doi. 10.1378/ chest.117.1.31.

  13. Gammon RB, Miksa AK, Keller FS. Osler-Weber-Rendu disease and pulmonary arteriovenous fistulas. Deterioration andembolotherapy during pregnancy. Chest 1990; 98 (6): 1522-4. doi. 10.1378/chest.98.6.1522.

  14. Hatzidakis AA, Gogas C, Papanikolaou N, Samonakis D, et al. Hepatic involvement in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Eur Radiol 2002; 12 (3): 51-5. doi. 10.1007/s00330-001-1302-1.

  15. Olivieri C, Lanzarini L, Pagella F, Semino L, et al. Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia. Genet Med 2006; 8 (3): 183-90. doi. 10.1097/01. gim.0000204463.77319.1c.

  16. Van Gent MW, Post MC, Luermans JG, Snijder RJ, et al. Screening for pulmonary arteriovenous malformations using transthoracic contrast echocardiography: a prospective study. Eur Respir J 2009; 33 (1): 85-91. doi. 10.1183/09031936.00049008.

  17. Machado RD, Eickelberg O, Elliott CG, Geraci MW, et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol 2009; 54 (1): S32-42. doi. 10.1016/j. jacc.2009.04.015.

  18. Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999; 54 (8): 714-29. http://dx.doi. org/10.1136/thx.54.8.714.

  19. Remy J, Remy-Jardin M, Giraud F, Wattinne L. Angioarchitecture of pulmonary arteriovenous malformations: clinical utility of three-dimensional helical CT. Radiology 1994; 191 (3): 657-64. doi. 10.1148/radiology.191.3.8184042.

  20. Swischuk JL, Castaneda F, Smouse HB, Fox PF, et al. Embolization of pulmonary arteriovenous malformations. Semin Intervent Radiol 2000; 17: 171-84. doi. 10.1055/s- 2000-9444.

  21. Reynaud-Gaubert M, Thomas P, Gaubert JY, Pietri P, et al. Pulmonary arteriovenous malformations: lung transplantation as a therapeutic option. Eur Respir J 1999; 14 (6): 1425-8. doi. 10.1183/09031936.99.14614259.

  22. Serra MM, Ferreyro BL, Peralta O, Levy-Yeyati E, et al. Huge pulmonary arteriovenous malformation, venous thromboembolism and anticoagulation treatment in a patient with hereditary hemorrhagic telangiectasia. Intern Med 2015; 54 (21): 2745-8. doi. 10.2169/internalmedicine.54.4540.

  23. White Jr RI. Pulmonary arteriovenous malformations: how do I embolize? Tech Vasc Interv Radiol. 2007; 10 (4): 283-90. doi. 10.1053/j.tvir.2008.03.007.

  24. Babaker M, Breault S, Beigelman C, Lazor R, et al. Endovascular treatment of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Swiss Med Wkly 2015; 145: w14151. https://doi.org/10.4414/ smw.2015.14151.

  25. Pollak JS, Saluja S, Thabet A, Henderson KJ, et al. Clinical and anatomic outcomes after embolotherapy of pulmonary arteriovenous malformations. J Vasc Interv Radiol 2006; 17 (1): 35-44; quiz 45. doi. 10.1097/01. RVI.0000191410.13974.B6.

  26. Lacombe P, Lacout A, Marcy PY, Binsse S, et al. Diagnosis and treatment of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: An overview. Diagn Interv Imaging 2013; 94 (9): 835-48. doi. 10.1016/j. diii.2013.03.014.

  27. Devlin HL, Hosman AE, Shovlin CL. Antiplatelet and anticoagulant agents in hereditary hemorrhagic telangiectasia. N Engl J Med 2013; 368 (9): 876-8. doi. 10.1056/ NEJMc1213554.

  28. Edwards CP, Shehata N, Faughnan ME. Hereditary hemorrhagic telangiectasia patients can tolerate anticoagulation. Ann Hematol 2012; 91 (12): 1959-68. doi. 10.1007/ s00277-012-1553-8.

  29. Martin JL, Faughnan ME, Prabhudesai V. Antithrombotic use predicts recanalization of embolized pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia. Can Assoc Radiol J 2017; 68 (4): 463-467. doi. 10.1016/j.carj.2017.05.001.




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