Hypoprothrombinemia

What is Hypoprothrombinemia?

Hypoprothrombinemia is a rare, inherited blood disorder that affects the body's normal clotting process. It is caused by a deficiency of a protein called prothrombin, which is necessary for proper blood clotting. Without sufficient prothrombin, excessive bleeding can occur after minor injuries or following surgery or childbirth.

Signs and Symptoms

The primary symptom of hypoprothrombinemia is excessive bleeding, which can occur either spontaneously or following a minor injury or surgery. Those with the disorder may also experience bruising, nosebleeds, or prolonged bleeding from cuts. Rarely, hypoprothrombinemia may be so severe that it causes problems with internal organs, such as the brain or lungs.

Causes

Hypoprothrombinemia is an inherited disorder caused by deficiencies in the gene that normally produces the prothrombin protein. It is a recessively inherited disorder, meaning that an individual must have two copies of the gene, one from each parent, in order to develop the disorder. Children with only one copy of the gene will not develop the disorder, but they carry the gene and can pass it on to their own children.

Diagnosis

Hypoprothrombinemia is diagnosed through a blood test that measures levels of prothrombin in the blood. If low levels of prothrombin are found, a genetic test may be ordered to determine if the individual has the recessive gene.

Treatment

Treatment for hypoprothrombinemia involves using replacement products to increase levels of prothrombin in the blood. These may be injected intravenously or given orally. Additionally, it is important that individuals with the disorder avoid medications that thin the blood, such as aspirin and ibuprofen. In some cases, an individual with hypoprothrombinemia may need to receive a transfusion before any surgery or childbirth.

Complications

One of the primary complications of hypoprothrombinemia is excessive bleeding. In rare cases, this can cause problems with internal organs such as the brain or lungs. It is also possible that individuals with the disorder may be at a higher risk for blood clots.

Prevention

Since hypoprothrombinemia is a hereditary disorder, there is no way to prevent it. Individuals with a family history of the disorder are encouraged to have genetic testing to determine if they are carriers of the recessive gene.

Management

• Avoid medications that thin the blood.
• Receive regular prothrombin replacement products.
• Avoid activities that increase the risk for injury.
• Get a transfusion before any surgery or childbirth.
• Seek medical attention for any bleeding or bruising.