Learn About Prekallikrein Deficiency

What is the definition of Prekallikrein Deficiency?

Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons.

A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency.

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What are the causes of Prekallikrein Deficiency?

Prekallikrein deficiency is caused by mutations in the KLKB1 gene, which provides instructions for making a protein called prekallikrein. This protein, when converted to an active form called plasma kallikrein in the blood, is involved in the early stages of blood clotting. Plasma kallikrein plays a role in a process called the intrinsic coagulation pathway (also called the contact activation pathway). This pathway turns on (activates) proteins that are needed later in the clotting process. Blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss.

The KLKB1 gene mutations that cause prekallikrein deficiency reduce or eliminate functional plasma kallikrein, which likely impairs the intrinsic coagulation pathway. Researchers suggest that this lack (deficiency) of functional plasma kallikrein protein does not generally cause any symptoms because another process called the extrinsic coagulation pathway (also known as the tissue factor pathway) can compensate for the impaired intrinsic coagulation pathway.

How prevalent is Prekallikrein Deficiency?

The prevalence of prekallikrein deficiency is unknown. Approximately 80 affected individuals in about 30 families have been described in the medical literature. Because prekallikrein deficiency usually does not cause any symptoms, researchers suspect that most people with the condition are never diagnosed.

Is Prekallikrein Deficiency an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Prekallikrein Deficiency Local Doctors?
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Highly rated in
20
conditions

University Of Padua

Padova, IT 

Antonio Girolami is in Padova, Italy. Girolami is rated as an Elite expert by MediFind in the treatment of Prekallikrein Deficiency. He is also highly rated in 20 other conditions, according to our data. His top areas of expertise are Factor 7 Deficiency, Prekallikrein Deficiency, Factor 10 Deficiency, and Prothrombin Deficiency.

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Highly rated in
11
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Cardiology

AdventHealth Medical Group Cardiology At Sebring

Sebring, FL 

Deo Sankar is a Cardiologist in Sebring, Florida. Dr. Sankar has been practicing medicine for over 34 years and is rated as a Distinguished doctor by MediFind in the treatment of Prekallikrein Deficiency. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Blood Clots, Atrial Fibrillation, Prekallikrein Deficiency, and Congenital Anti-Plasmin Deficiency. He is board certified in Cardiovascular Disease (Cardiology) and licensed to treat patients in Florida. Dr. Sankar is currently accepting new patients.

 
 
 
 
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Distinguished
Highly rated in
10
conditions

University Of Modena And Reggio Emilia

Modena, IT 

Silvia Ferrari is in Modena, Italy. Ferrari is rated as a Distinguished expert by MediFind in the treatment of Prekallikrein Deficiency. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Prekallikrein Deficiency, Factor 10 Deficiency, Prothrombin Deficiency, and Factor 7 Deficiency.

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What are the Latest Advances for Prekallikrein Deficiency?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.