Contributions
Abstract: PB2222
Type: Publication Only
Background
Congenital plasminogen (Plg) deficiency is a rare autosomal recessive disorder that leads to the development of ligneous membranes on mucosal surfaces.
Aims
Here we report our experience with local and intravenous fresh frozen plasma (FFP).
Methods
Our cohort consisted of 14 patients and their 8 first-degree relatives. The patients have been diagnosed between 3 months and 18 years of age, and the median age at the time of first clinical manifestation was 4.5 months (range 3 days to 12 months).
Results
Conjunctivitis is the main complaint, hydrocephalus and hearing loss follow. In 10 patients, ligneous membranes were surgically removed but all recurred. Nine patients were treated with intravenous and conjunctival FFP. Two patients had no complaints after treatment. Most patients needed transfusion with FFP every three weeks. Only one patient had severe endophthalmitis and lost vision in one eye before treatment. Two female patients and one male patient had undergone multiple surgeries for ligneous conjunctivitis despite being treated with FFP. The response rate to FFP treatment was 6/9 (66%). Another 8-year-old female with severe bronchial membranes was treated with FFP and t-PA through bronchoscopy. Venous thrombosis did not occur in any of the patients. Nine have consanguineous parents. The genetic evaluation of our patients revealed heterogeneous mutations as well as polymorphisms.
Conclusion
The diagnosis and treatment of Plg deficiency is challenging, and there is no consensus on treatment. Topical and iv FFP may be used with clinical outcome.
Session topic: 34. Thrombosis and vascular biology
Abstract: PB2222
Type: Publication Only
Background
Congenital plasminogen (Plg) deficiency is a rare autosomal recessive disorder that leads to the development of ligneous membranes on mucosal surfaces.
Aims
Here we report our experience with local and intravenous fresh frozen plasma (FFP).
Methods
Our cohort consisted of 14 patients and their 8 first-degree relatives. The patients have been diagnosed between 3 months and 18 years of age, and the median age at the time of first clinical manifestation was 4.5 months (range 3 days to 12 months).
Results
Conjunctivitis is the main complaint, hydrocephalus and hearing loss follow. In 10 patients, ligneous membranes were surgically removed but all recurred. Nine patients were treated with intravenous and conjunctival FFP. Two patients had no complaints after treatment. Most patients needed transfusion with FFP every three weeks. Only one patient had severe endophthalmitis and lost vision in one eye before treatment. Two female patients and one male patient had undergone multiple surgeries for ligneous conjunctivitis despite being treated with FFP. The response rate to FFP treatment was 6/9 (66%). Another 8-year-old female with severe bronchial membranes was treated with FFP and t-PA through bronchoscopy. Venous thrombosis did not occur in any of the patients. Nine have consanguineous parents. The genetic evaluation of our patients revealed heterogeneous mutations as well as polymorphisms.
Conclusion
The diagnosis and treatment of Plg deficiency is challenging, and there is no consensus on treatment. Topical and iv FFP may be used with clinical outcome.
Session topic: 34. Thrombosis and vascular biology