Related Experiment Video
Updated: Jul 15, 2025
Author Spotlight: Affinity Purification of a Fibrinolytic Enzyme from Sipunculus nudus
Published on: June 2, 2023
Plasminogen Deficiency: A Case Report and Review
Abdulrahman Nasiri1,2, Marwa Nassar1, Hazzaa Alzahrani1
1Hematology, King Faisal Specialist Hospital & Research Centre, Riyadh, SAU.
Insights
Plasminogen deficiency, a rare genetic disorder, can cause severe conjunctivitis and hydrocephalus. Plasminogen replacement therapy significantly improved symptoms in a pediatric case.
Area of Science:
- Ophthalmology
- Hematology
- Genetics
Background:
- Plasminogen deficiency is a rare disorder impacting fibrinolysis, often presenting with ligneous conjunctivitis.
- Ligneous conjunctivitis involves thick, woody deposits on the conjunctiva, potentially leading to vision impairment.
Observation:
- A case report details a Saudi girl with plasminogen deficiency presenting with both ligneous conjunctivitis and hydrocephalus.
- Initial symptoms included recurrent eye redness misdiagnosed as simple conjunctivitis, with later development of hydrocephalus due to increased intracranial pressure.
Findings:
- Genetic analysis confirmed plasminogen deficiency.
- Clinical findings included ligneous conjunctivitis, variable visual acuity, and facial acne.
- Laboratory tests revealed significantly diminished plasminogen levels.
Implications:
- Plasminogen replacement therapy, administered intravenously and topically, markedly reduced hospitalizations and conjunctivitis severity.
- Challenges in plasminogen supply necessitate exploring alternative treatments like hepatic transplantation.
- This case highlights the importance of considering rare genetic disorders in complex pediatric presentations.
Abstract:
Plasminogen deficiency, a rare disorder characterized by impaired fibrinolysis, frequently results in ligneous conjunctivitis. In this report, we report a case of a Saudi girl manifesting both conjunctivitis and hydrocephalus. Her initial symptoms at 1 month of age were recurring eye redness, which was inaccurately diagnosed as simple conjunctivitis. Surgical intervention for her ocular lesions revealed underlying membrane deposition. She later exhibited signs of increased intracranial pressure, resulting in a hydrocephalus diagnosis and subsequent surgery. Genetic analysis confirmed the presence of plasminogen deficiency. Clinical evaluations highlighted ligneous conjunctivitis, variations in visual acuity, and facial acne. Laboratory assessments demonstrated diminished plasminogen levels. The therapeutic approach encompassed plasminogen replacement, administered intravenously (1000 units, thrice weekly) and as eye drops, with the potential addition of fresh frozen plasma. Notably, this replacement therapy led to a significant reduction in hospital admissions and the severity of her conjunctivitis. Given the challenges in procuring consistent plasminogen supplies, the viability of hepatic transplantation is currently under investigation.
