📂 Diseases
congenital plasminogen activator inhibitor type 1 deficiency — Definition
Konjenital plazminojen aktivatör inhibitörü tip 1 eksikliği / congenital plasminogen activator inhibitor type 1 deficiency
Plazminogen activator is a rare bleeding disorder with autozomal resessive transition, which consists of mutations in the type 1 (PAI-1) gene. The lack of PAI-1 leads to trauma or post-surgical bleeding, which leads to uncontrolled increase of fibrinolysis (pitch destruction). In patients there is often a tendency to bleeding in mild to moderate severity; the most frequent nasal bleeding is reported to increase in gum bleeding and menstrual bleeding. The diagnosis is subject to the low detection of plasma PAI-1 activity and antigen levels.
Disease Definition
🔬 Disease Definition
Konjenital plazminojen aktivatör inhibitör tip 1 eksikliği, PAI-1 proteininin yetersiz üretimi veya işlev bozukluğu sonucu ortaya çıkan, fibrinolitik sistemin aşırı aktivitesine yol açan nadir bir kanama bozukluğudur.
🧬 Causes & Risk Factors
Otozomal resesif kalıtım gösteren SERPINE1 gen mutasyonları nedeniyle PAI-1 düzeylerinde azalma veya fonksiyon kaybı.
🩺 Symptoms & Signs
Travma veya cerrahi sonrası uzamış kanama, ekimoz, epistaksis, menoraji, diş eti kanamaları, intramüsküler hematomlar.
📋 Diagnostic Methods
PAI-1 aktivitesi ve antijen düzeylerinin ölçümü, genetik testler (SERPINE1 mutasyon analizi), global fibrinolitik testlerde (euglobulin lizis süresi) kısalma.
💊 Treatment Options
Antifibrinolitik ajanlar (traneksamik asit, epsilon-aminokaproik asit), kanama durumunda lokal hemostatik önlemler, nadiren taze donmuş plazma veya kriyopresipitat.
⚠️ Complications
Kronik kanamaya bağlı anemi, eklem kanamaları (hemartroz), postoperatif kanama komplikasyonları.
Frequently Asked Questions
❓ What is Konjenital plazminojen aktivatör inhibitörü tip 1 eksikliği?
Konjenital plazminojen aktivatör inhibitörü tip 1 eksikliği; plazminogen activator is a rare bleeding disorder with autozomal resessive transition, which consists of mutations in the type 1 (PAI-1) gene. The lack of PAI-1 leads to trauma or post-surgical bleeding, which leads to uncontrolled increase of fibrinolysis (pitch destruction). In patients there is often a tendency to bleeding in mild to moderate severity; the most frequent nasal bleeding is reported to increase in gum bleeding and menstrual bleeding. The diagnosis is subject to the low detection of plasma PAI-1 activity and antigen levels.
❓ What is congenital plasminogen activator inhibitor type 1 deficiency in Turkish?
The Turkish equivalent of "congenital plasminogen activator inhibitor type 1 deficiency" is Konjenital plazminojen aktivatör inhibitörü tip 1 eksikliği.
❓ Which medical field is Konjenital plazminojen aktivatör inhibitörü tip 1 eksikliği related to?
This term belongs to the Diseases category.