Hypoplasminogenemia, also known as plasminogen deficiency type 1, is a

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

characterized by a lack of the protein

plasminogen Plasmin is an important enzyme () present in blood that degrades many blood plasma proteins, including fibrin clots. The degradation of fibrin is termed fibrinolysis. In humans, the plasmin protein (in the zymogen form of plasminogen) is encode ...

, which is responsible for the ability of the body to break down fibrin clots. Plasminogen deficiency leads to an accumulation of fibrin, causing the development of growths (lesions) that can impair normal tissue and organ function and may lead to blindness when these lesions affect the eyes. It is caused by mutations in the PLG gene.

Treatment

Plasminogen, human-tvmh (Ryplazim) was approved for medical use in the United States in June 2021. It is the first therapy for hypoplasminogenemia approved by the U.S.

Food and Drug Administration The United States Food and Drug Administration (FDA or US FDA) is a List of United States federal agencies, federal agency of the United States Department of Health and Human Services, Department of Health and Human Services. The FDA is respon ...

(FDA).

References

External links

Congenital plasminogen deficiency
MeSH, National Library of Medicine Genetic diseases and disorders {{Genetic-disorder-stub