Genital Involvement in Female Patients With Congenital Type 1 Plasminogen Deficiency: A Case Series and Updated Literature Review
Cesare Dalla Porta, Maria Teresa Sartori, Graziella Saggiorato, Irene Cortella, Giulia Furlan, Sara Angela Malerba, Paolo SimioniAbstract
Introduction
Congenital type 1 plasminogen deficiency (PLGD1) is an ultra‐rare disorder characterized by the formation of fibrin‐rich pseudomembranes on mucosal surfaces across multiple organ systems. In affected females, ligneous lesions may involve the genital tract.
Aim
We aimed to characterize the clinical manifestations and therapeutic approaches associated with genital involvement in females with PLGD1.
Methods
A structured literature review was performed to identify previously reported females with PLGD1 and genital lesions. In addition, PLGD1 patients followed at Padua University Hospital were included.
Results
A total of 57 females with genital manifestations consistent with PLGD1 were identified, including 4 cases from our institution, 8 patients enrolled in a phase 2–3 clinical trial, and 9 cases described before recognition of the association with plasminogen deficiency. Reported plasminogen activity levels ranged from < 2% to 50%. Pseudomembranous lesions involved the vagina, cervix, endometrium, ovaries, and fallopian tubes. Genital involvement represented the sole clinical manifestation in 13 of 57 patients (22.8%). The most common symptoms included dysmenorrhea, vaginal discharge, post‐coital bleeding, and infertility (18/38 cases, 47.4%). Surgical excision was associated with a high rate of recurrence. Data on topical and systemic treatments for genital involvement were limited and largely empirical. The most effective therapeutic approach was replacement therapy with human Glu‐plasminogen concentrate and fresh frozen plasma.
Conclusions
Genital tract involvement in PLGD1 is not uncommon and may represent the sole manifestation of the disease, with potential implications for fertility. Glu‐plasminogen replacement therapy has shown promising results, although its availability remains limited worldwide.