• Laryngo- rhino- otologie · Apr 2011

    Review

    [Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) as an example of a rare disease relevant for oto-rhino-laryngology].

    • U W Geisthoff, S Maune, and G Schneider.
    • Klinik für Hals-Nasen-Ohrenheilkunde, Kopf- und Halschirurgie, Krankenhaus Holweide, Kliniken der Stadt Köln gGmbH, Köln. urban@geisthoff .de
    • Laryngorhinootologie. 2011 Apr 1; 90 (4): 230-42; quiz 243-4.

    AbstractDiagnosis and treatment of rare diseases are difficult. Hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber disorder) is a relatively common rare disease. Because epistaxis is the most frequent manifestation of this disease, affected individuals often approach otorhinolaryngologists first. The latter ones often have a key position for early diagnosis and screening for visceral involvement which can prevent life-threatening complications. Treatment of epistaxis can improve quality of life of affected persons. Diagnosis and treatment of rare diseases can be complex and it can be very helpful to use information resources to ensure a correct management. Various possibilities to access these resources are presented in general and in relation to HHT.© Georg Thieme Verlag KG Stuttgart · New York.

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