By: Eric Werner, MD, FAAP & Jayson Stoffman, MD, FRCPC, FAAP
Thrombophilia is the tendency to have abnormal or excessive blood clotting in the body. Some children will inherit a defective or mutated gene from one of their parents, which increases the risk of thrombophilia. Usually, children will be healthy and show no symptoms of excessive blood clotting, even with the mutated gene. The parents may not even know that they have this gene.
Rarely, some children may have a more serious risk of thrombophilia symptoms from the inherited gene. They can also inherit a defective gene from both parents, resulting in excessive clotting disorders. Fortunately, there are tests and steps that can be taken to help your child manage their thrombophilia.
What is thrombophilia?
Blood normally flows through our blood vessels to supply oxygen and nutrients to the different parts of our body. When there is an abnormal blood clot, called thrombosis, blood stops flowing through the vessels and to the affected body part. Without normal blood flow, the body part becomes damaged and does not function well. Special medicines, called anticoagulants, are needed to help the body to break down the blood clot, to allow the normal blood flow to reach the body, and maintain health.
What are different types of blood clots?
There are three types of blood clots that can form:
Deep vein thrombosis (DVT) is an abnormal blood clot in a vein, usually in the arm or leg.
A
pulmonary embolism is a blood clot that forms in or travels to the lungs.
An abnormal blood clot in the head is called a
stroke.
What are the signs and symptoms of a blood clot?
Each type of blood clot has its own symptoms.
Abnormal blood clots in the arm or leg, called
deep vein thrombosis, cause swelling, discoloration (red, white, blue or gray). There is also pain in the clotted arm or leg, which does not improve with rest.
Abnormal blood clots in the lungs, called a
pulmonary embolism, cause sudden chest pain, shortness of breath, and pain with breathing that does not improve with rest or asthma inhalers.
Abnormal blood clots in the head, called a
stroke, cause severe headaches, painless dysfunction of the face, speech, arms or legs, which do not improve with rest, hydration or over the counter medications.
Some clotting disorders result in severe bruising and clots in newborns (neonatal
purpura fulminans).
The most common inherited thrombophilia is called
Factor V Leiden gene mutation, which can be inherited from one or both parents. It is often without any symptoms. But like the rare excessive clotting disorders, inheriting this may increase a child's risk of excessive blood clotting.
What increases the risk for blood clots?
There are many things which may increase a child's risk for blood clots. Some of the most common include:
Dehydration
Tobacco use
Obesity
Long periods of time without physically moving
Certain medications such as estrogens (in birth control pills)
Certain surgery such as bone repair
Presence of a central venous catheter (a special tube in the blood vessel to deliver medicine)
Pregnancy
How is thrombophilia diagnosed?
Serious excessive clotting disorders are usually recognized and diagnosed at birth or in the newborn stage due to complications.
Can my child be tested for thrombophilia?
Blood testing is available after consultation with your pediatrician or a specialist in blood clotting called a pediatric hematologist. Testing may be considered if a child has a blood clot in their body when it is NOT caused by a common risk factor.
Testing for thrombophilia may also be considered when there is an immediate family member with a history of blood clots in the legs or lungs, heart attacks, or strokes at ages less than 50 years old. Testing of every child who has a blood clot or who has a distant family member is NOT always helpful in caring for the child's health.
Blood testing for genetic clotting disorders in children is expensive and can impact future insurance costs and health care options. Ideally, blood testing should be deferred until there is a medical need, or in low-risk situations when the child is old enough to provide informed consent.
How to decrease the risk for blood clots in in children, teens & adults with thrombophilia
Drink plenty of water
Avoid cigarette use and exposure
Maintain a healthy weight with exercise and healthy food intake
Avoid prolonged sitting by taking short walks or doing activities when watching TV, reading or playing video games
Stand and stretch every hour or two on long car rides or during long airline flights
Speak with your gynecologist or prescribing physician about contraceptives that avoid estrogen
If pregnant, alert the obstetrician (pregnancy doctor) to the clotting risk during and after the pregnancy
If surgery is needed, alert the surgeon to the clotting risk which occurs after surgery
Follow-up care after a bloot clot or inherited thrombophilia diagnosis
If your child has been diagnosed with a blood clot (thrombosis), regular visits with a pediatric hematologist are important. This ensures proper treatment and possible blood testing for thrombophilia.
If your child has been diagnosed with an inherited thrombophilia disorder, they will need follow up with a pediatric hematologist for prevention of clotting.
More information
About Dr. Werner
Eric Werner, MD, FAAP, is a pediatric hematologist/oncologist at Children's Hospital of The King's Daughters, the Chief Medical Quality and Wellness Officer for Children's Specialty Group and Professor of Pediatrics, Eastern Virginia Medical School Macon & Joan Brock Virginia Health Sciences at Old Dominion University in Norfolk, VA. In addition to bleeding and clotting disorders, his main interests are patient safety, quality improvement and health care worker wellness. |
About Dr. Stoffman
 Jayson Stoffman, MD, FRCPC, FAAP, is a pediatric hematologist/oncologist in Winnipeg, Manitoba, Canada. His main interests are treatment of children with bleeding and clotting disorders, and abnormalities of the red blood cell such as sickle cell and thalassemia. He is also very involved in education and advocacy for patients, families and healthcare providers. |