Discussion
Diagnosis With Brief Discussion
- Diagnosis
- Osler-Weber-Rendu disease (Hereditary hemorrhagic telangiectasia)
- Radiologic Findings
- Figure 1. Chest radiography shows two lobulated nodule and mass continuing to tortous vessels in left middle and lower lung zone
Figure 2-3. Axial CT images show the nodule and mass which is enhanced comparable to vessels and connected with the pulmonary artery and vein. They can be confirmed with pulmonary arteriovenous malformation.
Figure 4-5 Multifocal mucosal telangiectasias are seen in gastric endoscopy and colonoscopy.
- Brief Review
- She had history of recurrent epistaxis, getting bruises and chronic anemia. She was diagnosed with Osler-Weber-Rendu disease (Hereditary hemorrhagic telangiectasia) by meeting three of the criteria.
Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber disease, is a rare autosomal dominant multiorgan pathology characterized by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, with associated recurrent episodes of bleeding from affected sites. Although everyday symptoms in these patients are dominated by epistaxis that may markedly alter their quality of life, more severe manifestations of the disease are due to the consequences of pulmonary arteriovenous malformations (PAVMs) and, less often, to liver, brain, or gastrointestinal tract involvement. The diagnosis of HHT requires the presence of at least three of the following Curacao criteria: recurrent spontaneous epistaxis, mucocutaneous telangiectasis, an autosomal dominant familial distribution of the disease, and visceral AVMs. PAVM is the most frequent lesion of the lung in patients with HHT. It is usually silent at the time of PAVM induced. Strokes and brain abscess can be diagnosed at low risk.
- References
- 1. Govani F Shovlin C. Hereditary haemorrhagic telangiectasia: a clinical and scientific review European Journal of Human Genetics 2009;17:860–871.
2. Carette M Nedelcu C Tassart M Grange J Wislez M et. al. Imaging of Hereditary Hemorrhagic Telangiectasia CardioVascular and Interventional Radiology 2009;32:745-757.
- Keywords
- Lung, Hereditary,