Confirm a suspected case of PLGD-1 with a simple blood test for plasminogen activity, CPT® code: 85420, available in many major US labs with results in under 5 days.1-3
Plasminogen activity reference ranges vary by lab; be sure to review results carefully. In adults, the average normal range is 70-130%. Because activity levels don't always reflect symptom severity, patients with levels near the lower limit of normal should still be evaluated closely.2,4,5
View the plasminogen deficiency testing postcard
Each patient with PLGD-1 can present in a unique manner, with symptoms varying from person to person.
It is vital to run a thorough evaluation, assessing for signs of both internal and external lesions, as PLGD-1 is a systemic disease.3
View the recognizing ligneous conjunctivitis flyer
Since PLGD-1 is an autosomal recessive disorder,* testing patients' family members, particularly siblings, can help identify undiagnosed cases. Symptoms may vary widely even among members of the same family.3
*Gene sequencing can also be used to confirm PLGD-1 diagnosis.
It is vital to coordinate care with a hematologist for a comprehensive evaluation and treatment of internal lesions3
Indicating decreased levels of plasminogen can support a PLGD-1 diagnosis, but cannot confirm it on its own1
Showing fibrin-rich deposits in the biopsied tissue can support a PLGD-1 diagnosis, but cannot confirm it on its own1,6
*Lesion removal prior to diagnosis is not recommended3
Revealing a mutation in the gene coding for plasminogen can confirm a PLGD-1 diagnosis and screen asymptomatic family members, but is not required to diagnose7
†An activity test is typically needed to ensure treatment coverage
Median age of diagnosis
9.5months
Diagnosed as late as
61years old
Affects an estimated
1.6per million people
Diagnosed in more females than males
1.6:1female:male
PLGD-1 is rare with highly variable symptoms that resemble more common conditions and can fluctuate over time, leading to missed or delayed diagnoses.3 An estimated 1.6 per million people are affected by PLGD-1.6 While it is an autosomal recessive disorder, PLGD-1 is diagnosed more frequently in females than males for reasons not yet understood.10
While PLGD-1 is a genetic disease, genetic testing is not required for diagnosis.1
Learn about the latest treatment options and specialists involved in managing PLGD-1.
References: 1. Mehta R, Shapiro AD. Plasminogen deficiency. Haemophilia. 2008;14(6):1261-1268. 2. Plasminogen activity. Machaon Diagnostics. Accessed December 4, 2025. https://www.machaondiagnostics.com/test/plasminogenactivity 3. Shapiro AD, Nakar C. How I treat type 1 plasminogen deficiency. Blood. 2025;145(25):2954-2965. 4. Shapiro AD, Menegatti M, Palla R, et al. An international registry of patients with plasminogen deficiency (HISTORY). Haematologica. 2020;105(3):554-561. 5. Plasminogen activity. Quest Diagnostics. Accessed December 4, 2025. https://testdirectory.questdiagnostics.com/test/test-detail/4458/plasminogen-activity?cc=MASTER 6. Schuster V, Seregard S. Ligneous conjunctivitis. Surv Ophthalmol. 2003;48(4):369-388. 7. Congenital type 1 plasminogen deficiency. NORD. Updated February 6, 2025. Accessed December 4, 2025. https://rarediseases.org/rare-diseases/congenital-plasminogen-deficiency 8. Schuster V, Hügle B, Tefs K. Plasminogen deficiency. J Thromb Haemost. 2007;5(12):2315-2322. 9. Klammt J, Kobelt L, Aktas D, et al. Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity. Thromb Haemost. 2011;105(3):454-460. 10. 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.
