High molecular weight kininogen deficiency
High Molecular Weight Kininogen Deficiency (HMWKD) is a rare blood disorder characterized by a deficiency of the protein known as high molecular weight kininogen (HMWK). This protein plays a crucial role in the blood coagulation process and its deficiency can lead to abnormal bleeding.
Overview
High molecular weight kininogen (HMWK) is a protein that is part of the kinin-kallikrein system, which is involved in blood coagulation, inflammation, and blood pressure regulation. HMWK is produced in the liver and circulates in the bloodstream. It is a precursor to bradykinin, a potent vasodilator.
Causes
High Molecular Weight Kininogen Deficiency is an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disorder. The condition is caused by mutations in the KNG1 gene, which provides instructions for making HMWK.
Symptoms
The primary symptom of HMWKD is a prolonged bleeding time, which can lead to excessive bleeding after injury or surgery. Other symptoms may include easy bruising, nosebleeds, and heavy menstrual periods in women.
Diagnosis
Diagnosis of HMWKD is based on laboratory tests that measure the levels of HMWK in the blood. These tests include coagulation tests such as the activated partial thromboplastin time (aPTT) test, which is prolonged in individuals with HMWKD.
Treatment
There is currently no specific treatment for HMWKD. Management of the disorder primarily involves preventing and treating bleeding episodes. This may include the use of antifibrinolytic drugs to prevent bleeding, and blood transfusions to replace lost blood.
See also
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NIH genetic and rare disease info
High molecular weight kininogen deficiency is a rare disease.
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Rare diseases - High molecular weight kininogen deficiency
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