Christmas disease


Christmas disease

Description, Causes and Risk Factors:

Christmas disease is a rare, genetic blood disorder. The condition was first observed in Stephen Christmas in 1949. Christmas disease is only present in males, with females been carriers of the condition.

Christmas disease is a hamorrhagic state mainly affecting males, which was not distinguished from hemophilia until I952, when it was shown that the two conditions were due to fundamentally different defects in the blood-clotting mechanism. To appreciate the significance of the distinction it is necessary to understand the nature of the prothrombin-converting system of the blood, on which normal coagulation depends. In normal blood most of the prothrombin disappears during clotting because it is converted to thrombin, which is subsequently inactivated by antithrombin. Consequently serum, examined one hour after normal blood has clotted in a glass tube, contains very little prothrombin. In both hamophilia and Christmas'disease serum examined in this way by the prothrombin consumption test' is found to contain large amounts of prothrombin, demonstrating a failure of the prothrombin-converting mechanism. In severe cases 'of either condition the coagulation time in glass tubes is also prolonged. The defects in the two conditions are thus far the same, and distinction can only be achieved by tests which reveal the prothrombin-converting system in greater detail. These have shown that the two diseases are caused by the lack of two different components required for the formation of a prothrombin activator in the blood. Accurate diagnosis and the development of specific assay.

Christmas disease

Christmas disease, like classical hemophilia, is inherited as a sex-linked recessive characteristic. Although the disease was known and written about, in the past young men simply died of it because physicians did not know what caused it or how to treat it. In the 1800s, physicians thought that the bleeding occurred because the blood vessels were fragile. In 1937, a substance was found in normal blood that would make hemophilic blood clot, which was named "anti-hemophilic globulin."

In 1944, researchers found in one case that when the blood from two different hemophiliacs was mixed, both were able to clot. Nobody could explain this until 1952, when researchers in England realized there were 2 types of hemophilia. They had been studying a 10-year-old boy with hemophilia named Stephen Christmas who did not seem to have the "typical" disease. They called his version hemophilia B, or "Christmas disease," and the more prevalent kind hemophilia A, or "classic hemophilia." Christmas disease affects only 15-20% of people with hemophilia.

Symptoms:

The symptoms of Christmas disease are exactlythe same as those of hemophilia. The severelyaffected patient has multiple episodes of hemarthrosis with residual joint deformity, massivehematomata which often affect muscles as well asvarious other episodes of bleeding, includinghamaturia, epistaxis, gastrointestinal bleeding andretroperitoneal bleeding. The mildly affectedpatient bleeds excessively only following traumaand in the majority of patients the disease is disclosed by serious bleeding after accidents, dentalextraction or some other operative procedure. Inour experience the mildly affected patient usuallybleeds for three to 14 days after dental extractionand the bleeding is not controlled by pressure orsuturing. This history distinguishes the type ofbleeding from that of the common variety associated with mild capillary defects where bleeding isalmost always stopped by pressure or suturing.

Long term effects of Christmas disease are usually only seen with moderate to severe disease. Possibilities include:

    Anemia, or shortage of red blood cells.

  • Bleeding into the brain, resulting in strokes and mental disabilities.

  • Damage from bleeding. This includes joint deformity, arthritis, and muscle stiffness.

  • Abnormal iron deposits in the liver and other organs, which may cause damage.

Diagnosis:

Christmas disease is diagnosed by measuring factor IX protein activity in the plasma. The severity of the disorder is closely linked to factor IX activity. An individual with mild disease has more factor IX activity than those with severe disease. Other tests that may be used in diagnosis include the partial thromboplastin time, or PTT, and thrombin time, or PT. These lab tests measure the clotting ability of the blood.

Treatment:

Once it became clear that hemophilia was caused by a deficiency of a coagulation factor, replacement of the missing factor became the method of treatment. In the early 1950s animal plasma was used. By the 1970s, coagulation factor concentrates made from human plasma were available. Unfortunately, scientists now know that those concentrates carried viruses such as hepatitis and HIV, and many people with hemophilia became infected with these diseases.

Today, recombinant (genetically engineered) versions of coagulation factors are produced, which eliminates the risk of viruses. Children with hemophilia are given coagulation factor as a preventative treatment to reduce chronic bleeding and help them live long, healthy, and active lives.

Side Effects: Too much infusion of factor IX can cause blood clots to form in the veins. Medication to suppress the immune system can make the person more susceptible to infections.

Before current screening procedures, a factor IX transfusion carried a risk of HIV or hepatitis. Currently, with present screening techniques for factor IX products, the risk of acquiring hepatitis and HIV is very low. Individuals who have only been receiving blood products in the past 10 years have a very low risk of acquiring hepatitis and HIV from factor IX products.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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