📂 Diseases
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency — Definition
Glikosilfosfatidilinositol eksikliğine bağlı hiperkoagülabilite sendromu / hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
It is a disease that occurs as a result of a disorder in the synthesis of Glycosilphosphateidilinositol (GPI). This deficiency increases the risk of thrombosis by affecting the function of coagulation regulator proteins on the cell surface. Clinically, deep ven thrombosis can manifest itself with venous thrombocy events such as pulmonary embolism. The diagnosis is subject to the evaluation of laboratory tests and coagulation parameters, showing the deficiency of GPI.
Disease Definition
🔬 Disease Definition
Glikosilfosfatidilinositol (GPI) eksikliğine bağlı hiperkoagülabilite sendromu, GPI bağlantılı proteinlerin eksikliği sonucu tromboz eğiliminin arttığı nadir bir hastalıktır.
🧬 Causes & Risk Factors
PIGA gen mutasyonlarına bağlı GPI sentez defekti; edinsel (paroksismal noktürnal hemoglobinüri) veya konjenital olabilir.
🩺 Symptoms & Signs
Venöz tromboembolizm (derin ven trombozu, pulmoner emboli), karın ağrısı (mezenterik ven trombozu), baş ağrısı (serebral ven trombozu), hemoglobinüri, yorgunluk.
📋 Diagnostic Methods
Tam kan sayımı, retikülosit sayısı, LDH, haptoglobin, direkt Coombs testi; flow sitometri ile GPI bağlantılı protein (CD55, CD59) eksikliği; PIGA gen mutasyon analizi.
💊 Treatment Options
Antikoagülasyon (varfarin, heparin, DOAC'ler); eculizumab (kompleman inhibisyonu); destek tedavisi (folat, demir); kemik iliği nakli (seçilmiş vakalarda).
⚠️ Complications
Tekrarlayan tromboz, pulmoner hipertansiyon, kronik böbrek hastalığı, aplastik anemi, miyelodisplastik sendrom.
Frequently Asked Questions
❓ What is Glikosilfosfatidilinositol eksikliğine bağlı hiperkoagülabilite sendromu?
Glikosilfosfatidilinositol eksikliğine bağlı hiperkoagülabilite sendromu; it is a disease that occurs as a result of a disorder in the synthesis of Glycosilphosphateidilinositol (GPI). This deficiency increases the risk of thrombosis by affecting the function of coagulation regulator proteins on the cell surface. Clinically, deep ven thrombosis can manifest itself with venous thrombocy events such as pulmonary embolism. The diagnosis is subject to the evaluation of laboratory tests and coagulation parameters, showing the deficiency of GPI.
❓ What is hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency in Turkish?
The Turkish equivalent of "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" is Glikosilfosfatidilinositol eksikliğine bağlı hiperkoagülabilite sendromu.
❓ Which medical field is Glikosilfosfatidilinositol eksikliğine bağlı hiperkoagülabilite sendromu related to?
This term belongs to the Diseases category.