Rendu-Osler-Weber Syndrome: a rare cause for anemia

Hereditary hemorrhagic telangiectasia, also known as Rendu-Osler-Weber Syndrome, is a rare hereditary condition, with autosomal dominant transmission and variable expression and penetration. Arteriovenous malformations and mucocutaneous telangiectasia are the predominant characteristics. Arteriovenous malformations are most commonly encountered in the lungs, liver and brain. The leading manifestation is epistaxis, gastrointestinal bleeding and iron deficiency anemia. Diagnosis is often delayed due to the lack of clinical awareness; early diagnosis may have an important impact since it is necessary to screen for arteriovenous malformations on vital organs to prevent future life-threatening complications both to the patient and his family. We report the case of a 51-year-old man, presenting with a history of iron deficiency anemia for at least 2 years and frequent epistaxis. After a detailed clinical history, the patient reported the presence of frequent epistaxis episodes in various elements of his family. On physical examination, oral telangiectasias were found, with no other relevant features. A directed genetic study was requested which revealed the presence of the mutation on endoglin gene that confirmed the diagnosis of hereditary hemorrhagic telangiectasia. Arteriovenous malformations in the liver, brain and lungs were excluded following an extensive study. The patient was referred to specific otorhinolaryngology outpatient consultation and started oral iron replacement, presenting normalization of hemoglobin values.