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37 yo M has 2 day hx Right LE swelling & Discomfort. Pitting edema present too. u/s shows right femoral vein is noncompressible. what's gonna be found on genetic workup of pt?

1 Answer

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Final answer:

The patient likely has deep vein thrombosis (DVT), which could be associated with genetic conditions that increase blood clot risks, such as Factor V Leiden mutation or Prothrombin gene mutation.

Step-by-step explanation:

The question is related to a 37-year-old male experiencing right lower extremity (Right LE) swelling with discomfort and pitting edema, and an ultrasound showing noncompressible right femoral vein. This clinical presentation is suggestive of deep vein thrombosis (DVT). The genetic workup might be looking for thrombophilic disorders, which are genetic conditions increasing the risk of blood clots. For instance, Factor V Leiden mutation or Prothrombin gene mutation are common hereditary conditions associated with an increased risk of DVT. Close relatives of individuals with these mutations may also be at higher risk, hence genetic workups can be helpful in such cases. However, the provided information also mentions hereditary angioedema but this is unrelated to DVT and is characterized by episodes of swelling in various parts of the body due to dysfunction of C1 inhibitor protein.

User Pawel Gradecki
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