Identifying common bleeding disorders in pediatric patients

A newborn bleeding from the umbilical stump, an infant who’s just starting to walk having a painfully swollen joint after falling, an otherwise healthy child bruising easily after a viral infection, and a teenage girl with excessive menstrual bleeding all could signal bleeding disorders.

Signs of common bleeding disorders in children can take many forms from birth through adolescence, according to Ashok B. Raj, M.D., pediatric hematologist/oncologist with Norton Children’s Cancer Institute, affiliated with the UofL School of Medicine.

A newborn bleeding from the umbilical stump, an infant who’s just starting to walk having a painfully swollen joint after falling, an otherwise healthy child bruising easily after a viral infection, and a teenage girl with excessive menstrual bleeding all could signal bleeding disorders, Dr. Raj said during a continuing medical education opportunity. Dr. Raj is also chief of the division of pediatric hematology/oncology and stem cell transplantation at the University of Louisville School of Medicine.

When a blood vessel is disrupted, the hemostatic response must be quick, localized and carefully regulated. Abnormal bleeding may occur when specific elements are missing or dysfunctional. Skin and mucous membrane bleeds typically denote a primary hemostatic effect. For example, bleeding after a minor cut is a common presentation with a primary hemostatic defect.

Normally, there is a balance between the procoagulant and anticoagulants. In the newborn, for example, both the procoagulant and anticoagulants are reduced but so long as they’re balanced, it doesn’t swing to either bleeding or thrombosis.

Clotting factor deficiencies like hemophilia tend to present more on soft tissue muscle or joint bleeds. Hemarthrosis, which is bleeding into a joint, is rare in primary hemostatic defects but common in clotting factor deficiencies.

When babies are beginning to crawl and toddlers are beginning to walk, they often have bruises on their foreheads, their knees, and their shins. That’s to be expected as they bump into things and fall forward, according to Dr. Raj.

A family history of maternal relatives can be helpful in identifying common bleeding disorders, especially maternal uncles or other maternal relatives with a history of hemophilia, Dr. Raj said. Hemophilia A and B both have an X-linked recessive pattern of inheritance, but in about one third of patients, there is no family history of the disease.

Hemophilia is the most common bleeding disorder in males. Von Willebrand disease has an autosomal dominant inheritance and is in the most common bleeding disorder in females, though it affects males and females equally.

“We ask if mom or grandma or a maternal aunt or siblings who are females have a history of heavy menstrual bleeding. Another important aspect to consider is postpartum hemorrhage, particularly if there has been a need for transfusion,” Dr. Raj said.

Postpartum hemorrhage is a classic symptom of von Willebrand disease, according to Dr. Raj.

Some other common presentations of von Willebrand disease include petechiae, ecchymosis and mucosal bleeding.

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Immune thrombocytopenic purpura

Immune thrombocytopenic purpura (ITP) is characterized by a decrease in the number of platelets in the blood. ITP usually occurs in children between the ages of 2 and 5 but can happen in older children.

Primary ITP occurs in the absence of any systemic illness. Secondary ITP can occur whenever there’s a systemic illness. History of fever, weight loss, bone pain and night sweats are all important indicators of secondary ITP.

Within three months of diagnosis, ITP is considered acute ITP. Of patients with acute ITP, 80% have their ITP resolve within three months of presentation. If the ITP lasts from three months to one year, it’s called persistent ITP. Greater than a year, it’s chronic ITP. Acute ITP is usually heralded by viral respiratory or gastrointestinal infection, particularly in younger children. It can also occur after the MMR vaccination.

Because ITP occurs in the same age group where acute lymphoblastic leukemia (ALL) is most prevalent, there typically has been concern a child may have ALL. However, extensive studies have shown that isolated thrombocytopenia is almost never a presentation of ALL. Usually with ALL, a patient presents with more than one cytopenia.

If a newborn’s platelet is down on the first day of life, one possible cause is neonatal alloimmune thrombocytopenia. In this situation, you have, for example, HPA-1a-negative mom and an HPA-1a-positive baby.

“You can have antibodies that cross the placenta for the mom and cause thrombocytopenia in the baby,” Dr. Raj said.

This can happen during the first pregnancy or any subsequent pregnancy. A work-up will show if the mother and father have mismatched platelet antigens.

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