hematology and oncology
Hereditary Hemorrhagic Telangiectasia
Diagnosis of Hereditary Hemorrhagic Telangiectasia
Clinical evaluation Sometimes endoscopy or angiography Sometimes genetic testing Diagnosis of hereditary hemorrhagic telangiectasia is based on the finding of characteristic arteriovenous malformations on the face, mouth, nose, palms, digits, and/or internal organs in the context of epistaxis and family history. The Curaçao criteria include the following: Spontaneous recurrent epistaxis Multiple telangiectasias in typical locations Documented visceral arteriovenous malformations (eg, in the lung, liver, brain, and spine) First-degree family member with hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia is definite if 3 of these criteria are met and possible if 2 are met ( Diagnosis references ). Sometimes endoscopy or angiography or both are needed. Laboratory findings are usually normal except for Iron Deficiency Anemia in many patients. Testing for theENG,ACVRL1,andSMADH4 (MADH4)mutations may be helpful in some patients with atypical features or for screening asymptomatic family members. 1.Shovlin CL, Guttmacher AE, Buscarini E, et al: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).Am J Med Genet91(1):66–67, 2000. doi: 10.1002/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p 2.Faughnan ME, Mager JJ, Hetts SW, et al: Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia.Ann Intern Med173(12):989–1001, 2020. doi: 10.7326/M20-1443 