Occasionally, abnormalities of the vasculature and integument may lead to bleeding despite normal hemostasis; congenital or acquired disorders may be causative. These abnormalities include Ehlers-Danlos syndrome, osteogenesis imperfecta, Osler-Weber-Rendu disease (hereditary hemorrhagic telangiectasia), and Marfan syndrome (heritable defects) and integumentary thinning due to prolonged corticosteroid administration or normal aging, amyloidosis, vasculitis, and scurvy (acquired defects). The bleeding time often is prolonged. The bleeding time reflects the integrity of the vasculature (which is abnormal in collagen synthesis disorders) in addition to activity of platelets and coagulation factors. If possible, treatment of the underlying condition should be pursued, but if this is not possible or feasible (ie, congenital syndromes), globally hemostatic agents such as DDAVP can be considered for treatment of bleeding.
Patients with hereditary hemorrhagic telangiectasia should be referred to a hereditary hemorrhagic telangiectasia center of excellence (https://curehht.org/understanding-hht/get-support/hht-treatment-centers/). Bevacizumab and tranexamic acid can be useful in the treatment of hereditary hemorrhagic telangiectasia, and intravenous iron is often essential to prevent need for red cell transfusions.
et al; ATERO Study Group. Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease. J Thromb Haemost. 2014 Sep;12(9):1494–502.
et al. Intravenous bevacizumab for refractory hereditary hemorrhagic telangiectasia-related epistaxis and gastrointestinal bleeding. Mayo Clin Proc. 2018 Feb;93(2):155–66.
et al. Bevacizumab in the treatment of hereditary hemorrhagic telangiectasia. Expert Opin Biol Ther. 2013 Sep;13(9):1315–23.
et al. Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective. Haematologica. 2018 Sep;103(9):1433–43.
et al. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 2011 Jul;13(7):607–16.