PB0626 - Plasminogen deficiency: a case series of an ultra-rare disease in a Spanish centre

Background: Plasminogen (PLG) deficiency is an ultra-rare recessive disease with an estimated prevalence of 1,6 per million population. Patients with PLG deficiency may present a multi-organ systemic disease that commonly manifests as extravasculars of fibrin-rich pseudomembranes on mucous membranes. Ligneous conjunctivitis is the most common symptom disease (81% prevalence)

Aims: We describe four patients diagnosed with severe plasminogen deficiency who developed a heterogeneous clinical presentation in Vall d'Hebron Hospital in Spain

Methods: Retrospective data was collected from 4 patients with severe plasminogen deficiency. Study variables included gender, age, endogenous PLG activity and clinical presentation. Data were collected from medical records.

Results: Mean age were 34.5 years (Range 2-67) with one pediatric and 3 adults. All patients were female and were diagnosticated in their chilhood. Median endogenous PLG activity were 14.5% (Range 5-25%). Table 1 shows patients description.

Conclusion(s): Patients with PLG deficiency have multi-organ involvement and to achieve a diagnosis can be hard. The mangange of this patients is complex and must be multidisciplinar (with hematologists, ophthalmologists, gynecologists, dentists...) to correctly identify and treat all the complications that may appear. A standard consensus for their treatment is still not clear. The treatment should be chosen individually. Although no specific commercial therapies are available