How is Congenital PLGD Diagnosed?
Congenital Plasminogen Deficiency (PLGD) may be diagnosed at a very early age. However, those individuals who don’t show the visible fibrous legions associated with the condition may not receive the proper diagnosis until they experience other physical problems much later in life.¹ The condition is often under diagnosed because the lesions found in one area are often not recognized as being part of a condition that can affect multiple body systems.²
Both clinical and laboratory findings are used to help identify if you or a loved one has congenital PLGD.¹
Factors in Determining a Clinical Diagnosis
Diagnosing congenital PLGD typically begins very early because of the appearance of its hallmark symptom: ligneous conjunctivitis. These fibrin-rich, woody-like (ligneous) lesions in the membranes of the eye usually form during childhood. They are the most common of its identifiable symptoms, occurring in four out of five cases.¹, ³
Any Sign of Lesions Elsewhere on the Body
Since multiple body systems can be affected, examination of the ears, throat, respiratory tract, and female genital tract should also be done to see if the lesions occur in other areas. In addition, examining a child’s sun-exposed skin may show juvenile colloid milium, a rare skin condition associated with congenital PLGD.¹
A History of Congenital PLGD in Your Family
Congenital PLGD is an inherited condition, so family history can support the diagnosis, especially when other affected siblings or members of the family are tested. To confirm or rule out the doctor’s suspicion, a variety of tests are available that can also help determine the extent and severity of the condition.¹
If you or a loved one has been living with this condition without knowing what it was, a diagnosis can begin to bring some relief. Learn more about the tests involved in the diagnosis of congenital PLGD and its prognosis. The more you know about this condition the better prepared you’ll be to manage and cope on a day-to day basis.
1. Mehta R, Shapiro AD. Plasminogen activator inhibitor type I deficiency. Haemophilia. 2008;14(6):1255-1260.
2. National Institutes of Health, U.S National Library of Medicine, 2012. Genetics Home Reference: Congenital plasminogen deficiency. https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency. Accessed May 14, 2016.
3. Tefs K, Gueorguieva M, Klammt J, et al. Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients. Blood. 2006;108(9):3021-3026.
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