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.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/hypoplasminogenemia-a-forgotten-diagnosis-a-case-series-of-genotype-and-phenotype-correlation/