Abstract Number: PB2246
Meeting: ISTH 2020 Congress
Theme: Venous Thromboembolism and Cardioembolism » Thrombophilia
Background: Congenital plasminogen deficiency is a rare condition caused by mutations in PLG (plasminogen). PLG deficiency type 1pts (patients) have pseudomembraneous lesions (especially homozygous pts). There is a lack of data concerning heterozygous patients (PLG deficiency type 2, dysplasminogenemia) with residual activities around 50-60%. Most of the pts are asymptomatic, but a risk for thromboembolic occlussions is described.
Aims: To detect if pts are really asymptomatic or have e.g. a raised thrombotic risk.
Methods: By help of a register we could detect 12 patients presenting in our centre since 2016 (not randomized to thrombotic or bleeding complications).
Results:
- 10female, 2 male patients
- median age 39.8 years
- median plasminogen activity %: 59 %, minimum 16- max, 67 %
- 4 thrombotic events, 4 missed abortions
- 1 bleeding complications
- note: 1 with het. FV-Leiden-Mutations
- genetics: ACMG class 3, 4, 5
Conclusions: Plasminogen deficiency may be worth to be tested in pts with thromboembolic events. Like described before, it can be combined with FV-Leiden-Mutation. Further, multicentre studies are useful to collect more data of the heterozygous pts.
Other items for considerations: No off-label drug, no funding agency is involved, no clinical study just an anonymous register.
To cite this abstract in AMA style:
Alesci RS, Hecking C, Alef T. Hypoplasminogenemia – A Forgotten Diagnosis: A Case Series of Genotype and Phenotype Correlation [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/hypoplasminogenemia-a-forgotten-diagnosis-a-case-series-of-genotype-and-phenotype-correlation/. Accessed October 1, 2023.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/hypoplasminogenemia-a-forgotten-diagnosis-a-case-series-of-genotype-and-phenotype-correlation/