A challenging case of anemia, respiratory failure and seizures

Carlo Bova; Tommaso De Bartolo; Roberto De Stefano; Martina Ruvio

doi:10.23750/abm.v93iS1.13076

A challenging case of anemia, respiratory failure and seizures

Authors

Carlo Bova a:1:{s:5:"en_US";s:27:"Azienda Ospedaliera Cosenza";}
Tommaso De Bartolo
Roberto De Stefano
Martina Ruvio

Keywords:

Rendu Osler Weber syndrome; Telangiectasia; Pulmonary arteriovenous malformation.

Abstract

Background. Hemorrhagic Hereditary Telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare genetic disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations. Aim and Methods.We describe the case of a 64-year old woman in which radiology was useful to interpret an apparently unexplained constellation of symptoms. Results. Brain MRI showing ischemic stroke, pulmonary angiography demonstrating arteriovenous malformations, and capsule endoscopy detecting telangiectasias in the jejunum, along with a clinical history of recurrent epistaxis, allowed us to diagnose HHT. Conclusions. HHT is rare and difficult to diagnose. Radiology can aid the clinical suspicion. www.actabiomedica.it

References

Canzonieri C, Centenara L, Ornati F, Pagella F, Matti E, Alvisi C, Danesino C, Perego M, Olivieri C. Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. Genet Med. 2014;16:3–10.

Guttmacher AE, Marchuk DA, White RI . Hereditary hemorrhagic telangiectasia. N Engl J Med 1995;333:918–24 .

Ference BA, Shannon TM, White RI Jr, Zawin M, Burdge CM. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 1994;106:1387-90.

Roman G, Fisher M, Perl DP, Poser CM. Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of 2 cases and review of the literature. Ann Neurol 1978;4:130-44.

Rendu HJ. Épistaxis répétées chez un sujet porteur de petits angiomes cutanés et muqueux. Gaz Hop 1896:1322-3.

Nikolaou I, Rafailidis V, Kartas A, Kouskouras K, Giannakoulas G. A case of pulmonary arteriovenous malformation in the setting of Rendu Osler Weber syndrome. Radiol Case Rep. 2020 Dec 18;16(3):483-486. doi: 10.1016/j.radcr.2020.12.024. eCollection 2021 Mar.

Fuchizaki U, Miyamori H, Kitagawa S, Kaneko S, Kobayashi K. Hereditary Haemorrhagic Telangiectasia (Rendu-Osler-Weber Disease) Lancet 2003;362:1490-4.

Garg N, Khunger M, Gupta A, Kumar N. Optimal management of hereditary hemorrhagic telangiectasia. J Blood Med. 2014;5:191–206.

Tortora A, Riccioni ME, Gaetani E, Ojetti V, Holleran G, Gasbarrini A. Rendu-Osler-Weber disease: a gastroenterologist's perspective. Orphanet J Rare Dis. 2019 Jun 7;14(1):130. doi: 10.1186/s13023-019-1107-4.

Piskorz MM, Waldbaum C, Volpacchio M, Sordá J. Liver involvement in hereditary hemorrhagic telangiectasia. Acta Gastroenterol Latinoam. 2011; 41:225–9 [PMID: 22233000].

Buscarini E, Leandro G, Conte D, Danesino C, Daina E, Manfredi G, Lupinacci G, Brambilla G, Menozzi F, De Grazia F, Gazzaniga P, Inama G, Bonardi R, Blotta P, Forner P, Olivieri C, Perna A, Grosso M, Pongiglione G, Boccardi E, Pagella F, Rossi G, Zambelli A. Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. Dig Dis Sci. 2011;56:2166–78.

Dines DE, Arms RA, Bernatz PE, Gomes MR. Pulmonary arteriovenous fistulas. Mayo Clinic Proc 1974;49:460-5.

Narsinh KH, Ramaswamy R, Kinney TB. Management of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia patients. Semin Intervent Radiol. 2013 Dec;30(4):408-12. doi: 10.1055/s-0033-1359736.

Meybodi AT, Kim H, Nelson J, Hetts SW, Krings T, terBrugge KG, Faughnan ME, Lawton MT; Brain Vascular Malformation Consortium HHT Investigator Group. Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study. Neurosurgery. 2018 Jan 1;82(1):35-47. doi: 10.1093/neuros/nyx168.