Congenital plasminogen deficiency (PLGD) is inherited in an autosomal recessive fashion due to mutations on chromosome 6. Many different mutations have been identified in type I deficiency, and in affected patients mutations can be compound heterozygous or homozygous. The specific genetic mutation is not currently known to predict the development of symptoms or severity of disease (ref 1).
PLGD is very rare genetic disorder estimated to affect 1.6 per 1 million persons (ref 3,4). The true prevalence may be under-estimated because the symptoms can present in a variety of ways to many different types of healthcare providers (ophthalmologists, dentists, ENT physicians, gynecologists, etc), and may not be recognized as a symptom of plasminogen deficiency.
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- Tait RC et al. Plasminogen levels in healthy volunteers–influence of age, sex, smoking and oral contraceptives. Thromb Haemost. 1992;68(5):506-510.
- Dykes and Polesky. Incidence of the PLG* QO allele in human populations. In: Mayr WR, ed. Advances in Forensic Haemogenetics: Springer-Verlag Berlin Heidelberg, 1988:261-264.
- Mehta and Shapiro. Plasminogen deficiency. Haemophilia. 2008;14(6):1261-1268.