Genetic Clotting Disorder in Children

Published on 
October 9, 2015
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A blood clot is when blood changes from a liquid to a solid. Blood clots are good because they help your body stop bleeding. But they can form when you don’t need them in veins or arteries. You can have a blood clot in your arteries or veins in places like your arms, legs, eyes, lungs, brain or other organs.

Some kids are born with a genetic condition, which is passed down from a child's parent(s), that makes them at greater risk for a blood clot.

Types of Genetic Clotting Disorders

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There are many different types of genetic clotting disorders:

  • Factor V (5) Leiden
  • Prothrombin Mutation
  • Protein C and Protein S Deficiency
  • Antithrombin Deficiency
  • Elevated Homocystein
  • Elevated Lipoprotein (a)
  • Elevated Factor VIII (8)
  • Antiphospholipid Antibody Syndrome (APLA or APLAS)

Symptoms of Blood Clots

The symptoms of a blood clot can be different depending on its location. Symptoms can also depend on if the clot happens in a vein or artery.

Symptoms of a clot in your arm or leg include:

  • Pain in your arm or leg
  • Swelling in your arm or leg
  • Arm or leg may be warm to the touch
  • Not able to move your arm or leg as well
  • Discoloration or purple color of the skin
  • Weak or absent pulse

Symptoms of a clot in your lung include:

  • Chest pain, squeezing or heaviness (some people describe it like an elephant sitting on their chest)
  • Chest pain becomes sharper when taking a breath
  • Shortness of breath or you can’t catch your breath (for no reason)
  • Quick breathing
  • Blueness of extremities Symptoms of a clot in your brain include:
  • Unable to speak normally
  • Hard time moving one side of your body
  • Vision changes
  • Changes in your personality
  • Seizures
  • Headache
  • Part of your face doesn’t look like the other half

Diagnosis and Treatment

  • Genetic clotting disorders are diagnosed using a blood test. To diagnose a blood clot, the following tests can be used:
  • Ultrasound
  • MRI
  • Venogram
  • CT scan

Blood clots are treated using an anticoagulant, a medicine that makes the blood thinner and stops the blood clot from getting bigger. This condition is usually treated for at least 3 months, but the length of treatment depends on where the blood clot is, how it is progressing during treatment and if there are any side effects from the clot.

Visit CHLA.org/HTC for more information on how your family can get screened and treated for genetic clotting disorders.