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Review
. 2021;79(3):417-421.
doi: 10.3233/CH-211120.

Congenital erythrocytosis - A condition behind recurrent thromboses: A case report and literature review

Saša Anžej Doma  1   2 , Aleša Kristan  3 , Nataša Debeljak  3 , Irena Preložnik Zupan  1   2
Affiliations
Review

Congenital erythrocytosis - A condition behind recurrent thromboses: A case report and literature review

Saša Anžej Doma et al. Clin Hemorheol Microcirc. 2021.

Abstract

Congenital erythrocytosis (CE) is an extremely rare disease and an infrequent cause of heamoglobin and haematocrit elevation. Genetic testing of CE is not widely available. Patients in whom a cause of erythrocytosis is not identified are classified as idiopathic erythrocytosis (IE) patients. In some types of CE thrombotic events have been reported but there is little hard evidence to advise on management in asymptomatic patients. Similarly is true for patients with IE. We describe a young patient who suffered several thromboembolic complications before the diagnosis of CE type 4 was established.

Keywords: Congenital erythrocytosis; DNA sequencing; idiopathic erythrocytosis; thrombosis.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

References

    1. McMullin MF. Congenital erythrocytosis. Int J Lab Hematol. 2016;38(Suppl 1):59–65. - PubMed
    1. McMullin MF, Harrison CN, Ali S, Cargo C, Chen F, Ewing J, et al.. A guideline for the diagnosis and management of polycythaemia vera. A British Society for Haematology Guideline. Br J Haematol. 2019;184(2):176–91. - PubMed
    1. Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, et al.. Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases. Human Mutation. 2013;35:15–26. - PubMed
    1. Bento C. Genetic basis of congenital erythrocytosis. Review article. Int J Lab Hem. 2018;40(Suppl 1):62–7. - PubMed
    1. McMullin MFF, Mead AJ, Ali S, Cargo C, Chen F, Ewing J, et al.. A guideline for the management of specific situations in polycythaemia vera and secondary erythrocytosis: A British Society for Haematology Guideline. Br J Haematol. 2019;184(2):161–75. - PMC - PubMed

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