A Rare Cause of Prolonged Prothrombin Time: Alagille Syndrome

Abstract

Alagille syndrome (ALGS) is a rare genetic disorder characterized by bile duct aplasia accompanied by cholestatic liver disease and multisystem involvement, including typical facial features, congenital heart anomalies, butterfly vertebrae, ophthalmologic abnormalities, and renal anomalies. It is associated with mutations in cell signaling pathway genes such as JAG1 (Jagged Canonical Notch Ligand 1) and NOTCH2 (Notch Receptor 2)1 . Its reported incidence ranges from 1 in 70,000 to 1 in 100,000; however, with the development of molecular screening tests, the true prevalence is estimated to be approximately 1 in 30,0002. Due to the absence of bile ducts, bile flow to the intestine is impaired in ALGS, which may lead to vitamin K deficiency, prolonged INR, and bleeding manifestations. In this study, we present a patient with Alagille syndrome who developed severe coagulopathy and bleeding manifestations due to vitamin K deficiency associated with cholestasis. Clinical findings, laboratory results, imaging studies, and treatment response were evaluated. Alagille syndrome may present with vitamin K deficiency–related coagulopathy and bleeding due to impaired bile flow and fat-soluble vitamin malabsorption. Therefore, monitoring coagulation parameters and early recognition of vitamin deficiencies are important for preventing bleeding complications in patients with ALGS.

Keywords

• Alagille sydrome
• coagulopaty
• Vitamin K deficiency

Protrombin Zamanı Yüksekliğinin Nadir Bir Nedeni: Alagille Sendromu

Abstract

Alagille sendromu (ALGS), safra yolu aplazisi ile karakterize, kolestatik karaciğer hastalığı ve tipik yüz görünümü, konjenital kalp anomalileri, kelebek vertebra, oftalmolojik anormallikler ve renal anomaliler gibi multisistem tutulumun eşlik ettiği nadir bir genetik hastalıktır. JAG1 (Jagged Canonical Notch Ligand 1) ve NOTCH2 (Notch Receptor 2) gibi hücre sinyal yolak genlerindeki mutasyonlarla ilişkilidir¹. Bildirilen insidansı 70.000’de 1 ile 100.000’de 1 arasında değişmektedir; ancak moleküler tarama testlerinin gelişmesiyle birlikte gerçek prevalansın yaklaşık 30.000’de 1 olduğu tahmin edilmektedir². ALGS’de safra yollarının yokluğu nedeniyle safranın barsağa akışı bozulur; bu durum vitamin K eksikliğine, INR uzamasına ve kanama bulgularına yol açabilir. Bu çalışmada, kolestaza bağlı vitamin K eksikliği sonucu ciddi koagülopati ve kanama bulguları gelişen Alagille sendromlu bir hasta sunulmuştur. Klinik bulgular, laboratuvar sonuçları, görüntüleme incelemeleri ve tedavi yanıtı değerlendirilmiştir. Alagille sendromu, safra akımının bozulmasına ve yağda çözünen vitaminlerin malabsorpsiyonuna bağlı olarak vitamin K eksikliği ile ilişkili koagülopati ve kanama ile prezente olabilir. Bu nedenle, ALGS hastalarında koagülasyon parametrelerinin izlenmesi ve vitamin eksikliklerinin erken tanınması, kanama komplikasyonlarının önlenmesi açısından önemlidir.

Keywords

• Alagille sendromu
• koagulopati
• vitamin K eksikliği

References

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