Abstract
Background: Prothrombin, also called Factor II, is a blood clotting protein found in all individuals that is necessary to form blood clots. In most individuals, a balance between bleeding and blood clot formation occurs. However, in individuals with a mutation in the prothrombin gene, the balance is disrupted due to excess production of prothrombin which leads to an increase in blood clot formation (1). Inherited predispositions to blood clot formation are termed hereditary thrombophilia. Prothrombin G20210A mutations are one of the most common hereditary gene associations. Case Description: This report examines the case of a 23-year-old female who has tested positive for the prothrombin gene mutation. The individual has an extensive history of blood clots including 8 deep vein thromboses (DVTs), 4 pulmonary embolisms with one complete infarction, 4 superficial clots, and a miscarried pregnancy attributed to her thrombophilia. The individual has a significant family history of the mutation and takes Coumadin daily for prevention of further clots. Practical and Ethical Implications: Despite a strong familial history of blood clots and related hospitalizations, the parents of the case individual do not want to get their other children tested for the mutation for fear that the children will be denied insurance coverage in their futures. The case individual will likely continue to be on blood thinners indefinitely. This will affect many aspects of her life, including dental treatment, as she will be at an increased risk for bleeding.
Highlights
Having a mutation in a blood clotting gene such as Pro-‐ thrombin G20210A, means that an individual has a higher tendency to form blood clots
The goal of this paper is to report the case of a 23-‐year-‐old female with an extensive history of clotting issues stemming from a prothrombin gene mutation
Being diagnosed with a clotting disorder like a prothrombin muta-‐ tion has many implications that can last a lifetime. Individuals with such mutations are at increased risk for clotting without medica-‐ tion, and are at increased risk for bleeding if on blood thinners such as Warfarin [2]
Summary
Having a mutation in a blood clotting gene such as Pro-‐ thrombin G20210A, means that an individual has a higher tendency to form blood clots. The most common compli-‐ cation of having a prothrombin gene mutation is the increased risk for formation of a deep venous thrombosis, or DVT. In indi-‐ viduals with a muta-on in the prothrombin gene, the balance is disrupted due to excess produc-on of prothrombin which leads to an increase in blood clot forma2on [1]. The case individual will likely con!n-‐ ue to be on blood thinners indefinitely This will affect many aspects of her life, including dental treatment, as she will be at an increased risk for bleeding
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