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Type 1 plasminogen deficiency


Other Names for this Disease

  • Hypoplasminogenemia
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Your Question

My son has type 1 plasminogen deficiency and currently has been diagnosed with ligneous conjunctivitis. Please provide any and all information that you have with respect to this disease.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is type 1 plasminogen deficiency?

Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered by local injury and/or infection and often recur after removal of the lesion; they are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. The most common clinical finding is ligenous ('wood-like') conjunctivitis, a condition marked by redness and subsequent formation of pseudomembranes of part of the eye that progresses to white, yellow-white or red thick masses with a wood-like consistency that replace the normal mucosa. Hydrocephalus may be present at birth in a small number of individuals.[1]  
Last updated: 12/9/2008

What signs and symptoms are found in type 1 plasminogen deficiency?

Type 1 plasminogen deficiency causes reduced levels of functional plasminogen. The rare inflammatory disease mainly affects the mucous membrances in different body sites. Although the symptoms and their severity may vary from person to person, the most common clinical manifestation is ligneous conjunctivitis, characterized by development of fibrin-rich, woodlike ('ligneous') pseudomembranous lesions. Involvement of the cornea may result in blindness. Other, less common manifestations are ligenous gingivitis, otitis media, ligneous bronchitis and pneumonia, involvement of the gastrointestinal or female genital tract, juvenile colloid milium of the skin (condition in which clear papules develop on sun-exposed areas of the skin), and congenital hydrocephalus. Although the condition is known to cause thrombotic events in mice, no reports of venous thrombosis in humans with the condition have been documented.[826]
Last updated: 12/8/2008

How might type 1 plasminogen deficiency be treated?

The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. Recurrence has been prevented by daily injections with plasminogen sufficient to achieve plasma concentrations to approximately 40% of the normal amount of plasminogen. Treatment with topical plasminogen has also been successful and resulted in dramatic improvement and complete resolution of the membranes. In some women, treatment with oral contraceptives have resulted in an increase in the levels of plasminogen and some resolution of the pseudomembrane.[2]
Last updated: 12/8/2008

What causes plasminogen deficiency, type 1?

Plasminogen deficiency, type 1 is caused by a mutation in a gene encoding plasminogen, an enzyme whose function is to dissolve fibrin clots.[3][4] Fibrin clots form scabs at a wound site.
Last updated: 12/8/2008

Is plasminogen deficiency, type 1 inherited? If so, in what manner?

Plasminogen deficiency, type 1 is inherited in an autosomal recessive fashion, which means that an individual must inherit two disease-causing mutated copies of the plasminogen gene in order to have the condition and exhibit symptoms.
Last updated: 12/8/2008

References
  • Ginsburg D. Hemophilia and Other Disorders of Hemostasis. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Emery and Rimoin's Principles and Practice of Medical Genetics, 5th ed. Philadelphia: Elsevier Ltd; 2007;
  • Colman RW, Marder VJ, Clowes AW, George JN, Goldhaber SZ. Hemostasis and Thrombosis. Philadelphia: Lippincott Williams & Wilkins; 2005;
  • Plasminogen Deficiency, Type 1. Online Mendelian Inheritance in Man (OMIM). June 6, 2008; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217090. Accessed 12/8/2008.
  • Plasminogen. Online Mendelian Inheritance in Man (OMIM). November 12, 2008; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350. Accessed 12/8/2008.
  • Tefs K, Gueorguieva M, Klammt J, Allen CM, Aktas D, Anlar FY et al. Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients. Blood. November 2006;
Other Names for this Disease
  • Hypoplasminogenemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.