How I treat type 1 plasminogen deficiency.

Area of Science:

• Genetics and Hematology
• Rare Diseases
• Biochemistry

Background:

• Type 1 plasminogen deficiency (PLGD) is an ultra-rare genetic disorder resulting from PLG pathogenic variants, leading to reduced plasminogen levels.
• PLGD manifests as fibrin-rich mucosal pseudomembranes, potentially impairing organ function, reducing quality of life, and posing life-threatening risks.

Purpose of the Study:

• To present clinical vignettes illustrating diagnostic and therapeutic strategies for Type 1 plasminogen deficiency.
• To emphasize the importance of timely diagnosis and consistent management for PLGD patients.

Main Methods:

• Review of clinical cases and diagnostic approaches for PLGD.
• Discussion of treatment strategies including intravenous plasminogen concentrate (IV PLG).
• Highlighting the role of genetic testing and multidisciplinary care centers.

Main Results:

• Delayed diagnosis is common due to PLGD's rarity and varied initial symptoms mimicking other conditions.
• Intravenous human plasma-derived Glu-plasminogen (IV PLG concentrate) is the first and only FDA-approved treatment for lesion regression.
• Personalized treatment plans, including prophylaxis, are crucial based on disease severity.

Conclusions:

• Prompt identification and management of PLGD are essential, even in asymptomatic individuals.
• Multidisciplinary care, often within specialized centers like Hemophilia Treatment Centers, is vital for optimal patient outcomes.
• IV PLG concentrate offers a specific and effective therapeutic option for managing PLGD manifestations.