Osler-Weber-Rendu disease or hereditary hemorrhagic telangiectasia. Case report
DOI:
https://doi.org/10.5281/zenodo.13123067Keywords:
arteriovenous malformations, hereditary hemorrhagic telangiectasia, vascular diseasesAbstract
Introduction: hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu disease is of genetic origin and is rare. Patients present anomalous communications between arterioles and venules, and specific malformations in internal organs. Its diagnosis is generally based on the clinical and radiological criteria of Curaçao.
Objetivo: describe the imaging findings leading to the diagnosis of hereditary hemorrhagic telangiectasia in a patient.
Case presentation: female patient, 67 years old, mixed race, with apparent health history. She went to a specialized consultation due to hemoptysis; During the anamnesis she did not report pain or other symptoms. On physical examination, ulcers were found at the base of the tongue, and nails that looked like watch glass. Complementary imaging tests were indicated. In them, a network of dilated and tortuous vessels, and another peripheral capillary, were observed. A spiculated nodular image was also seen, related to the vascular structure, and the appearance of small pulmonary telangiectasia.
Conclusion: the diagnostic suspicion of Osler-Weber-Rendu disease arose from the patient's symptoms and physical examination, in accordance with the Curaçao criteria. And it was corroborated by computerized axial angiotomography of the thorax and abdomen (simple and contrasted). These imaging examinations were decisive both in identifying the characteristic arteriovenous malformations and in accurately detailing the vascular lesions through volumetric reconstructions. This case shows the importance of imaging techniques in the diagnosis of patients suspected of suffering from hereditary hemorrhagic telangiectasia.
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