Pulmonary arteriovenous malformations: Epidemiology, etiology, and pathology in adults
- James R Gossage, MD
James R Gossage, MD
- Professor of Medicine
- Augusta University
Pulmonary arteriovenous malformations (PAVMs) are abnormal communications between pulmonary arteries and veins . Alternative names include pulmonary arteriovenous fistulae, pulmonary arteriovenous aneurysms, cavernous angiomas of the lung, and pulmonary telangiectases . PAVMs are uncommon in the general population, but they are an important consideration in the differential diagnosis of common pulmonary problems, including hypoxemia, pulmonary nodules, and hemoptysis. In addition, they are a common occurrence in patients with hereditary hemorrhagic telangiectasia (HHT, also called Osler-Weber-Rendu syndrome).
The epidemiology, etiology, pathology, clinical features, and natural course of PAVMs are reviewed here. The diagnosis and treatment of PAVMs are discussed separately. (See "Pulmonary arteriovenous malformations: Clinical features and diagnostic evaluation in adults" and "Therapeutic approach to adult patients with pulmonary arteriovenous malformations".)
General population — Pulmonary arteriovenous malformations (PAVMs) are uncommon in the general population. This was illustrated by a study of 15,000 consecutive autopsies, in which only three cases of PAVMs were detected . Three additional case series from the Mayo Clinic suggested a similar low rate of PAVMs in the general population reporting 194 cases of PAVMs over 45 years (ie, 4.3 cases per year) [3-5].
PAVMs are 1.5 to 2 times as common among women, compared with men .
In patients that have PAVMs, they are commonly multiple, and vary in their number, distribution, and size. As an example, in one retrospective study of 350 patients with PAVMs, 36 percent of patients had multiple lesions and 25 percent had bilateral disease . More than half of the lesions were in the lower lung fields and almost 80 percent involved the pleura. In another study of 112 patients who underwent embolization of PAVM, 67 percent had multiple PAVMs and 92 percent were in the lower lobes . Other retrospective series indicate that PAVMs are typically 1 to 5 cm in size (but occasionally exceed 10 cm) and that 7 to 11 percent of patients have diffuse microvascular PAVMs that may occur in combination with radiographically visible PAVMs [5,9,10]. PAVMs tend to increase slowly in size over time and rarely regress spontaneously.
- Churton, T. Multiple aneurysms of the pulmonary artery. Br Med J 1897; 1:1223.
- SLOAN RD, COOLEY RN. Congenital pulmonary arteriovenous aneurysm. Am J Roentgenol Radium Ther Nucl Med 1953; 70:183.
- Swanson KL, Prakash UB, Stanson AW. Pulmonary arteriovenous fistulas: Mayo Clinic experience, 1982-1997. Mayo Clin Proc 1999; 74:671.
- Dines DE, Arms RA, Bernatz PE, Gomes MR. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1974; 49:460.
- Dines DE, Seward JB, Bernatz PE. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1983; 58:176.
- Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). Respiration 2007; 74:361.
- BOSHER LH Jr, BLAKE DA, BYRD BR. An analysis of the pathologic anatomy of pulmonary arteriovenous aneurysms with particular reference to the applicability of local excision. Surgery 1959; 45:91.
- Mager JJ, Overtoom TT, Blauw H, et al. Embolotherapy of pulmonary arteriovenous malformations: long-term results in 112 patients. J Vasc Interv Radiol 2004; 15:451.
- Kretschmar O, Ewert P, Yigitbasi M, et al. Huge pulmonary arteriovenous fistula: diagnosis and treatment and an unusual complication of embolization. Respir Care 2002; 47:998.
- White RI Jr, Lynch-Nyhan A, Terry P, et al. Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology 1988; 169:663.
- Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995; 333:918.
- Pollak JS, Saluja S, Thabet A, et al. Clinical and anatomic outcomes after embolotherapy of pulmonary arteriovenous malformations. J Vasc Interv Radiol 2006; 17:35.
- Shovlin CL, Jackson JE, Bamford KB, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax 2008; 63:259.
- Nakayama M, Nawa T, Chonan T, et al. Prevalence of pulmonary arteriovenous malformations as estimated by low-dose thoracic CT screening. Intern Med 2012; 51:1677.
- Vase P, Holm M, Arendrup H. Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med Scand 1985; 218:105.
- Haitjema T, Disch F, Overtoom TT, et al. Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 1995; 99:519.
- Plauchu H, de Chadarévian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989; 32:291.
- van Gent MW, Post MC, Snijder RJ, et al. Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study. Chest 2010; 138:833.
- Fuchizaki U, Miyamori H, Kitagawa S, et al. Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease). Lancet 2003; 362:1490.
- Hosman AE, de Gussem EM, Balemans WAF, et al. Screening children for pulmonary arteriovenous malformations: Evaluation of 18 years of experience. Pediatr Pulmonol 2017; 52:1206.
- Al-Saleh S, Mei-Zahav M, Faughnan ME, et al. Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia. Eur Respir J 2009; 34:875.
- Vorselaars VM, Velthuis S, Snijder RJ, et al. Follow-up of pulmonary right-to-left shunt in hereditary haemorrhagic telangiectasia. Eur Respir J 2016; 47:1750.
- Krowka MJ. Hepatopulmonary Syndrome and Portopulmonary Hypertension. Curr Treat Options Cardiovasc Med 2002; 4:267.
- Lange PA, Stoller JK. The hepatopulmonary syndrome. Ann Intern Med 1995; 122:521.
- Gossage JR, Kanj G. Pulmonary arteriovenous malformations. A state of the art review. Am J Respir Crit Care Med 1998; 158:643.
- Mathur M, Glenn WW. Long-term evaluation of cava-pulmonary artery anastomosis. Surgery 1973; 74:899.
- Kim SJ, Bae EJ, Cho DJ, et al. Development of pulmonary arteriovenous fistulas after bidirectional cavopulmonary shunt. Ann Thorac Surg 2000; 70:1918.
- Wong HH, Chan RP, Klatt R, Faughnan ME. Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics. Eur Respir J 2011; 38:368.
- Pugash RA. Pulmonary arteriovenous malformations: overview and transcatheter embolotherapy. Can Assoc Radiol J 2001; 52:92.
- HALES MR. Multiple small arteriovenous fistulae of the lungs. Am J Pathol 1956; 32:927.