Hypoplasminogenemia a.k.a. Type 1 Plasminogen Deficiency
What is hypoplasminogenemia?
Hypoplasminogenemia or type 1 plasminogen deficiency is a genetic condition associated with inflamed growths on the mucous membranes – the tissues that line orifices such as the eyes and mouth. The most commonly affected area is the conjunctiva, where the mucous membranes protect the whites of the eye and eyelids
These growths may be triggered by local injury and/or infection, often reoccur after removal, and are caused by the deposition of fibrin and by inflammation.
What are the symptoms of hypoplasminogenemia?
- Ligneous conjunctivitis (inflammation around the eyelids)
- Abnormality of vision
- Abnormality of the fallopian tube or ovaries
- Middle ear abnormality
- Respiratory system abnormality
- Skin issues
What causes hypoplasminogenemia?
Hypoplasminogenemia is caused by mutations in the PLG gene. This gene aids in the development of a protein called plasminogen. Enzymes called plasminogen activators convert plasminogen into the protein plasmin, whose function is to dissolve fibrin clots (scabs/new tissue growth).
PLG mutations can decrease the amount of plasminogen produced, change its function, or both. When the mutations affect both plasminogen levels and protein activity, type 1 plasminogen deficiency (hypoplasminogenemia) results.
How is hypoplasminogenemia diagnosed?
Type 1 plasminogen deficiency is often diagnosed after clinical evaluation, detailed patient history, and identification of characteristic symptoms.
What treatments are available for hypoplasminogenemia?
There is currently no treatment for hypoplasminogenemia.
However, some cases of ligneous conjunctivitis have been successfully treated using a combination of surgery and plasminogen administration. Other therapies include:
- Immunosuppressants (Cyclosporine)
- Blood thinners
- Alpha-chymotrypsin (digestive enzyme)
- Plasma infusion (white blood cells)
Where can I find out more about hypoplasminogenemia or type 1 plasminogen deficiency?