Congenital predisposition and VTE

There are three congenital disorders related to the appearance of a thrombosis and/or pulmonary embolism.

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When we diagnose a venous thromboembolism (VTE) in a patient, our first concern is to confirm the diagnosis, then to calm the symptoms and prevent the disease from progressing.

Once VTE diagnosis is confirmed and the patient is stabilized, we have to find the cause of the disease, especially when VTE appears in young people or patients who do not have any risk factors that justifies it. Sometimes we discover that the patient has some type of congenital alteration which makes their blood more likely to clot, which tells us why a thrombosis occurred.Only few of this group of patients will have to take anticoagulants for  life.

The main congenital disorders that are related to the appearance of VTE are:

  • deficits of antithrombin, protein C or protein S
  • genetic alterations such as the presence of Factor V Leiden and prothrombin 20210 gene mutation
  • anti-phospholipid syndrome (which is not a congenital disease)

If any of these alterations are detected, we already have an explanation as to why the thrombosis has occurred.

A person with a congenital predisposition to thrombosis must be aware of this and always inform their doctor when they need to undergo surgery, take estrogen drugs, or have to be immobilized.

RELATED QUESTIONS

 

My father underwent surgery because of a hernia and he didn’t receive heparin. He then died due to a pulmonary embolism. Was it a case of medical negligence?
Not necessarily. As a consequence of a surgical procedure some patients bleed (during the intervention or during the first days) and in others, blood gets thicker and promotes the creation of coagules (thrombi). If we give heparin, we reduce the risk of thrombosis, but we increase the risk of bleeding. For that reason, every case is different. In any case, nobody can know which patients will bleed (with or without heparin) and which will cause a thrombosis (with or without heparin). Decision to prescribe or nor heparin, is based on approximations. Some procedures bleed a lot and create very few thrombosis, some other procedures bleed very little and create many thrombosis, and some other bleed a lot and create many thrombosis.
My mother is receiving chemotherapy and she needs hibor7500 every 24 hours. She puts it at 8 pm, could it be possible to change the hour so she can do it earlier?
Absolutely, she can do it already tomorrow. She can change it to the hour that works best for her. Then, make sure she does it always at the same time (approximately).

RELATED INFORMATION

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Last update

July 2024

 

 

 

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