The Hemostasis & Thrombosis Center offers basic information for primary care providers regarding bleeding and clotting disorders:
Bleeding Disorders
In the primary care setting, the vast majority of bleeding disorders are genetic and most (including all serious bleeding disorders) will present during childhood from as early as birth to the late teen years. Some mild bleeding disorders will present in adulthood usually following a hemostatic challenge such as surgery or trauma.
Important details every primary care provider should know about bleeding disorders:
- Bleeding disorders are not uncommon and it is very likely that primary care providers will encounter such patients at least annually in their practice
- The presenting symptoms can be simply stated as bleeding that is either:
- Unusual (intracranial hemorrhage)
- Excessive
- Numerous bruises particularly in unusual places or that are large and/or palpable
- Excessive bleeding following circumcision or dental work
- The most serious conditions can often be detected by simple laboratory assays such as the PT and PTT. It should be noted that some serious conditions (factor XIII deficiency) and some mild though common conditions (von Willebrand Disease) may not be diagnosed by these tests
- Be wary of accusations of child abuse merely for finding the excessive bruising. Unless other signs of abuse are clear, it is prudent to have the child evaluated for a bleeding disorder prior to making reports to the authorities
- In any case where a bleeding disorder is suspected, refer to the Children’s Hospital Los Angeles Hemostasis and Thrombosis Center
Clotting Disorders
Clotting disorders can be either acquired or inherited.
Acquired
In children, the vast majority of blood clots (thrombosis) occur when a child has a serious medical condition such as cancer, heart disease, chronic gastrointestinal disorders and autoimmune disorders. Children will also develop thrombosis secondary to the use of a central venous catheter and most will present when hospitalized. Most of the children with thrombosis will not have a genetic component to their thrombosis and the treatment tie for the clot will be finite. These types of patients will present first to the hematologist rather than the primary care provider.
On rare occasions, children who are otherwise healthy will develop a clot and present to their primary care provider. This is a very serious and potentially life-threatening situation and immediate consultation with the Children’s Hospital Los Angeles Hemostasis and Thrombosis Center or referral to the Children’s Hospital emergency room is recommended.
With respect to adults, thrombosis is much more common and more often presents in the ambulatory setting to primary care providers or emergency rooms. The incidence of thrombosis increases steadily with age and is relatively rare prior to the age of 50 and increases dramatically after the age of 60. Similar to children, the presentation of a potential thrombosis to a primary care provider should prompt immediate consultation or referral to the emergency room (Children’s Hospital only if the patient is under age 21).
Inherited
A common scenario for a primary care provider is a question from a parent regarding the identification of a family member with an inherited predisposition to thrombosis (sometimes referred to as thrombophilia). Some of these disorders are very common.
Factor V Leiden
Factor V Leiden occurs in 2-10% of Caucasians depending on ancestry with the highest rates in the Middle East, tapering to lower rates in those of Southern European ancestry to even lower rates in those of Northern European ancestry. Patients who are genetically of pure African, Asia, Native American or Pacific Islander descent do not carry this genetic mutation. However, in the United States we have many patients of mixed ancestry/ethnicity and patients who among the groups above may still be found to have factor V Leiden.
Prothrombin Mutation
The prothrombin mutation occurs in 2-3% of Caucasians and has its highest incidence in people of Southern European descent with those of Spanish Descent seeming to have the highest incidence. The same logic regarding those of African and Asian descent applies to this mutation as for factor V Leiden.
Protein C Deficiency, Protein S Deficiency and Antithrombin
Protein C deficiency, protein S deficiency and antithrombin are less common clotting disorders and affect all races relatively equally. In total, between 5-10% of Caucasians and 1-2% of people of African, Asian, Native American or Pacific Islander descent will have a genetic predisposition to thrombosis.
Questions?
For patients and/or families that either have questions regarding clotting disorders or are requesting testing for the putative abnormality, we recommend a referral to the Children’s Hospital Los Angeles Hemostasis and Thrombosis Center.
At the Hemostasis and Thrombosis Center we can see both children and adults in our thrombosis outpatient clinic. We recommend referral to the Center prior to embarking on expensive laboratory test which often raise more questions than provide answers. Our expert staff will provide a thorough and detailed consultation and determine with the patient/family if testing should or should not be performed.
The following are important details every primary care provider should know about clotting disorders:
- Most children with a blood clot will present while they are an inpatient and the vast majority will have a serious underlying condition
- When children do present to a primary care provider with symptoms of a blood clot, it will manifest as pain and swelling in the leg (rarely in arm)
- Girls will present sighs more often than boys due to the use of oral contraception
- For any child that presents symptoms which may be due to a blood clot, immediate referral to the Children’s Hospital Hemostasis and Thrombosis Center or Emergency Room is high recommended
- For adults who present symptoms suggestive of a blood clot, immediate referral to an emergency room is highly recommended
- In the primary care setting and increasing common scenario is the request for genetic testing for clotting disorders
- We recommend that such patients/families be referred to the Children’s Hospital Hemostasis and Thrombosis Center prior to ordering expensive laboratory tests
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