Govani and Shovlin1 recently described the clinical and diagnostic implications of hereditary haemorrhagic telangiectasia (HHT). The authors1 do not seem to be paying attention to the possible presence of genetic thrombophilic risk in HHT patients in relation to pharmacological treatment. Recently, we published2 a case of HHT and genetic thrombophilia with pharmacological complications attributed to the coexistence of both genetic conditions.
In the review paper, the authors1 also highlight the risks of life-threatening maternal complications in pregnant HHT women. It is well known that up to 65% of vascular gestational abnormalities can be accounted for by genetic thrombophilias.3 Therefore, it is possible that women with HHT may have recurrent pregnancy loss or other pregnancy complications because of to thrombophilic gene mutations. In the presence of thrombophilic risk, therapy with acetylsalicylic acid and low molecular heparin is recommended, but this may increase the risk of haemorrhages in the presence of HHT. To our knowledge, there are no data on the incidence of pregnancy complications, such as fetal loss or venous thrombosis, in HHT patients. As reported by Undas et al.,4 in the absence of life-threatening haemorrhages and detectable vascular malformations, oral anticoagulation could be considered with strictly haematological and clinical follow-up. An associated thrombotic tendency may confer a survival advantage for HHT patients by decreasing the severity of their bleeding problems.5
We suggest that for the clinical management of these patients, genetic tests and counselling for inherited thrombophilia may be useful to prevent vascular and pregnancy complications and that more appropriate pharmacological treatment in consideration of the possible presence of both genetic conditions is used.
References
Govani FS, Shovlin CL : Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 2009; 17: 860–871.
Bianca S, Cutuli N, Bianca M et al: Clinical management of Rendu-Osler-Weber syndrome and genetic thrombophilia. Blood Coagul Fibrinol 2009 (in press).
Kupferminc MJ, Eldor A, Steinman N et al: Increased frequency of genetic thrombophilias in women with complications of pregnancy. N Engl J Med 1999; 340: 9–13.
Undas A, Bazan-Socha S, Swadzba J, Musial J : Hereditary hemorrhagic telangiectasia, factor V leiden and antiphospholipid syndrome: a case report. Blood Coagul Fibrinol 2002; 13: 53–56.
Wechalekar A, Parapia L : Hereditary haemorrhagic telangiectasia with protein S deficiency in a family: a case report. Eur J Haematol 2000; 64: 59–60.
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Bianca, S., Cutuli, N., Bianca, M. et al. Hereditary haemorrhagic telangiectasia and genetic thrombophilia. Eur J Hum Genet 18, 405 (2010). https://doi.org/10.1038/ejhg.2009.204
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DOI: https://doi.org/10.1038/ejhg.2009.204
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