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| Fig. 37.3 Hereditary hemorrhagic telangiectasia (Osler-Rendu- Weber disease). Punctate telangiectasias of the fingers that provide a cutaneous clue to the diagnosis of a genodermatosis with involvement of the gastrointestinal tract. (Courtesy of the Fitzsimons Army Medical Center teaching files.) |
The most likely cause is hereditary hemorrhagic telangiectasia (HHT), also known as Olser-Weber-Rendu syndrome. This is an autosomal dominant genetic disorder with highest prevalence in the Dutch Antilles (1:1330). Two subtypes exist: HHT-1 and HHT-2, due to ENG (9q33-34) and
ALK-1 (2q13) TGFB-1 receptor mutations, respectively. Affected individuals develop linear, punctuate, and papular red lesions on the lips, face, mucous membranes, fingers (Fig. 37-3), and toes beginning in childhood. The entire GI tract may also be affected with similar lesions, and bleeding may be minimal (causing a chronic iron-deficiency anemia), or massive (leading to an acute, severe and sometimes fatal blood loss). The disease prevalence of GI manifestation is 15% to 45%. The mucous membranes, especially the nasal mucosa, are also involved. In children, an important early clue to the diagnosis is recurrent severe nosebleeds (epistaxis) prior to the presence of other more typical findings. Diagnosis results from the positive finding of three out of four Curaçao criteria (epistaxis, telangiectasias, visceral lesions, first-degree relative with HHT). Patients continue to develop new lesions throughout life. Individuals with the HHT-1 subtype have an increased risk of arteriovenous malformations of the lungs, liver (causing cirrhosis), and central nervous system.
Letteboer TG, Mager JJ, Snijder RJ, et al:
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia, J Med Genet 43(4):371–377, 2006.
Sabba C, Pasculli G, Lenato GM, et al:
Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers, J Thromb Haemost 5(6):1149–1157, 2007.
