Hypoplasminogenemia
| Hypoplasminogenemia | |
|---|---|
| Other names | Plasminogen deficiency type 1 |
Hypoplasminogenemia, also known as plasminogen deficiency type 1, is a genetic disorder characterized by a lack of the protein plasminogen, which is responsible for the ability of the body to break down fibrin clots.[1] 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.[1]
It is caused by mutations in the PLG gene.[2]
Treatment
[edit]Plasminogen, human-tvmh (Ryplazim) was approved for medical use in the United States in June 2021.[1] It is the first therapy for hypoplasminogenemia approved by the U.S. Food and Drug Administration (FDA).[1]
References
[edit]- ^ a b c d "FDA Approves First Treatment for Patients with Plasminogen Deficiency, a Rare Genetic Disorder". U.S. Food and Drug Administration (FDA) (Press release). 4 June 2021. Retrieved 5 June 2021.
This article incorporates text from this source, which is in the public domain.
- ^ "Congenital plasminogen deficiency". MedlinePlus Genetics. Retrieved 5 June 2021.
External links
[edit]- Congenital plasminogen deficiency MeSH, National Library of Medicine
- Plasminogen Deficiency Foundation
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |