Abstract
Background
Hereditary hemorrhagic telangiectasia (HHT) (the Osler–Weber–Rendu syndrome) is a rare autosomal dominant disease characterized by telangiectasias and arteriovenous malformations of the upper and lower respiratory tract, gastrointestinal tract, skin and central nervous system. Several previous reports have documented the appearance of a concomitant neoplasm in patients with this syndrome.
Aims
To study the occurrence and the clinical characterization of colonic neoplasm in patients with HHT.
Methods
We retrospectively reviewed the computerized database of the Hadassah University Hospitals (Jerusalem, Israel) for all patients with the diagnosis of HHT between January 1st, 1980 and July 30th, 2002. Cases of neoplasm were documented by review of medical charts and pathology reports.
Results
Six of the 24 patients developed malignancy. Three of the cases had extra colonic malignancy (melanoma in two patients and adenocarcinoma of urinary bladder in one patient) and three patients had adenocarcinoma of the colon. An additional three patients developed multiple colonic polyps (one patient had melanoma and one patient had adenocarcinoma of urinary bladder).
Conclusions
HHT may be associated with the development of colonic adenocarcinoma and polyps. Therefore, in patients with HHT who present with new-onset anemia or gastrointestinal bleeding a lower gastrointestinal tract evaluation should be performed, even if their blood loss is suspected to be a manifestation of gastrointestinal HHT.
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Elinav, E., Salameh-Giryes, S., Ackerman, Z. et al. Does any lower gastrointestinal bleeding in patients suffering from hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu) necessitate a full colonic visualization?. Int J Colorectal Dis 19, 595–598 (2004). https://doi.org/10.1007/s00384-004-0607-3
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DOI: https://doi.org/10.1007/s00384-004-0607-3