Aile Hekimliği Pratiğinde Trombofili ve Tarama

Year 2023, , 277 - 281, 20.10.2023

Nevena Ivanova

https://doi.org/10.18521/ktd.1355206

Cited By: 1

Abstract

Trombofili, bireyleri trombotik olaylara yatkın hale getiren bir grup kalıtsal veya edinilmiş bozukluğu kapsar. Bu bireylerin tanımlanması, uygun yönetim stratejilerine rehberlik etmek ve komplikasyon riskini ve buna bağlı olarak artan sağlık hizmeti maliyetleri ve mortaliteyi azaltmak için önemlidir. Derin ven trombozu (DVT) ve pulmoner emboliyi (PE) kapsayan venöz tromboembolizm (VTE), önemli morbidite ve mortalite oranları nedeniyle önemli bir küresel sağlık sorununu temsil etmektedir. Pratisyen hekimler (GP'ler), faaliyetlerini sağlık sisteminin girişinde - birinci basamakta - yerine getirdiklerinden, hastaların trombofili açısından değerlendirilmesinde ve ilk taranmasında hayati bir rol oynamaktadır. Ayrıca yenidoğanlardan hamilelere ve yetişkinlere kadar heterojen bir hasta grubuna, risk faktörlerini ve altta yatan hastalıkları iyi bilerek hizmet veriyorlar. Pratisyen hekimlikte genellikle kalıcı bir doktor-hasta ilişkisi kurulur ve tıbbi geçmiş belgelenir ve iyi bilinir; bu da pratisyen hekimlikte başlatılan taramanın büyük bir başarıyla gerçekleştirilmesini mümkün kılar. Trombofiliye yol açan en yaygın genetik bozukluklar Faktör V Leiden mutasyonu, Protrombin gen mutasyonu, Protein C eksikliği, Protein S eksikliği, Antitrombin eksikliğidir. Oral kontraseptif kullanımı, hormon replasman tedavisi (HRT), hamilelik, doğum sonrası dönem ve malignite dahil olmak üzere birden fazla kazanılmış durum, VTE gelişimine yatkınlığın artmasıyla da ilişkilendirilmiştir. Genel pratikte trombofili taraması, trombotik olay riski yüksek olan bireyleri belirlemek için açık endikasyonlara göre yönlendirilmelidir.

Keywords

Trombofili, Kalıtsal, Edinsel, Tromboz, Tarama, Aile Hekimliği

Thrombophilia and Screening in Family Medicine Practice

Abstract

Thrombophilia encompasses a group of inherited or acquired disorders that predispose individuals to thrombotic events. The identification of these individuals is essential to guide appropriate management strategies and reduce the risk of complications and the associated increased healthcare costs and mortality. Venous thromboembolism (VTE), encompassing deep vein thrombosis (DVT) and pulmonary embolism (PE), represents a major global health concern due to its substantial morbidity and mortality rates. General practitioners (GPs) play a vital role in the assessment and initial screening of patients for thrombophilia, as they perform their activities at the entrance of the health care system - in primary care. In addition, they serve a heterogeneous group of patients - from newborns to pregnant women and adults, knowing their risk factors and underlying diseases well. In general practice, an enduring doctor-patient relationship is usually established and the medical history is documented and well known, making it possible to carry out screening initiated in general practice with great success. The most common genetic defects that lead to thrombophilia are Factor V Leiden mutation, Prothrombin gene mutation, Protein C deficiency, Protein S deficiency, Antithrombin deficiency. Multiple acquired conditions have also been linked with an increased predisposition towards VTE development, including oral contraceptive use, hormone replacement therapy (HRT), pregnancy, postpartum period and malignancy. Thrombophilia screening in general practice should be guided by clear indications to identify individuals at increased risk of thrombotic events.

Keywords

Thrombophilia, Hedediter, Acquired, Thrombosis, Screening, Family medicine

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