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Pediatric Update

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Pediatric Update

 
Summer 2005

Coagulation Disorders Often Not Detected

Advancements in the treatment and management of blood coagulation, or bleeding disorders have dramatically improved the health and quality of life for many of the 2 percent to 4 percent of the overall population who are afflicted. For many pediatric patients this means normal childhood activities such as physical play and sports are no longer forbidden, and they can look forward to a relatively normal and healthy future.

Severity of bleeding disorders can range from mild and often undetected to debilitating and crippling. Bleeding disorders manifest in prolonged—not profuse—bleeding, and carry the risk of severe internal bleeding, often into the joints. These conditions—whether inherited or not—can stem from many causes, including deficiencies in clotting factors and abnormal platelet function.

Hemophilia

The hemophilias, perhaps the most well known group of related bleeding disorders, represents a deficiency of specific coagulation proteins called factors. Usually they are X-linked recessive and typically pass from mother to son. Rarely, the daughter of a male hemophiliac and a female carrier can also inherit the disease. In up to one-third of diagnosed cases, no family history exists and the disorder arises from a spontaneous genetic mutation.

“Hemophilia is easy to diagnose by a simple laboratory test. The difficulty is to consider the diagnosis as a possibility and actually order the test,” says Guy Young, M.D., pediatric hemotology and oncology specialist at the Hemophilia Treatment Center at Mattel Children’s Hospital at UCLA. The most obvious trigger is family history; if the boy’s maternal grandfather has hemophilia, a 50 percent chance exists that the child will inherit it. If the family history is unknown, signs to watch for include prolonged bleeding after circumcision, slow trickles of blood from the umbilical stump, significant swelling with immunizations, or abnormal bruising from crawling. Any of these should prompt physicians to order a partial thromboplastin time (PTT) test. If the result is abnormal, then test for the deficient factor, usually VIII or IX.

Hemophilias classify as mild, moderate or severe and can lead to significant pathology, especially joint disease. Major advances in the treatment of hemophilia revolve around correcting clotting deficiencies with factor concentrates as well as managing the complications of joint disease, Dr. Young adds. With proper intervention from an early age, children with hemophilia can develop normally without crippling pain, lead normal adult lives and remain mobile, a vast improvement from the average 30-year lifespan of yesterday’s sufferer.

Von Willebrand Disease

Although hemophilia is the most widely known bleeding disorder, von Willebrand disease is the most common hereditary coagulation disorder, affecting both males and females. “Von Willebrand disease, caused by a deficiency in von Willebrand clotting factor and platelet abnormalities due to defective platelet function, accounts for approximately 80 percent of all pediatric coagulation disorders,” notes Dr. Young. Blood tests can diagnose both von Willebrand disease and platelet abnormalities. Afflicted children who experience bleeding episodes may require desmopressin to temporarily increase the level of von Willebrand factor or improve platelet function, and those with von Willebrand disease may need injections of clotting factor concentrates with von Willebrand factor.

Bleeding problems are common, yet greatly underdiagnosed. Left undetected—even in their mildest forms—they can lead to significant problems. Routine medical procedures can swiftly escalate into emergencies necessitating unexpected transfusions and special care. Children with any kind of bleeding disorder, regardless of severity, often require high doses of clotting factor before and after medical procedures, such as tonsillectomy or tooth extraction, to prevent dangerous complications.

Although pediatricians may first suspect that their patient has a bleeding disorder, subspecialists are best equipped to prescribe a regimen for optimal management of the disease. Despite the name, federally designated Hemophilia Treatment Centers (HTC) located throughout the United States provide state-of-the-art care for patients with any type of coagulation disorder. To date, the most effective treatment includes clotting factors, although the frequency of the infusions and the relatively high rate of inhibitor development are common drawbacks. “Our foremost goal is to cure these diseases, especially hemophilia, with gene therapy,” says Dr. Young. “Since that is likely many years away, our near-future goals include improved treatment, especially for patients who develop inhibitor, and novel adjunctive therapies for joint disease management.”





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