About Congenital high-molecular-weight kininogen deficiency

What is Congenital high-molecular-weight kininogen deficiency?

Congenital high-molecular-weight kininogen deficiency (CHMKD) is a rare inherited disorder caused by a mutation in the gene that codes for high-molecular-weight kininogen (HK). This gene is responsible for producing a protein that helps regulate the body’s clotting system. People with CHMKD have a deficiency of this protein, which can lead to excessive bleeding and bruising. In some cases, the disorder can also cause recurrent infections, anemia, and other complications. Treatment for CHMKD typically involves replacement therapy with a synthetic form of the missing protein.

What are the symptoms of Congenital high-molecular-weight kininogen deficiency?

The symptoms of Congenital high-molecular-weight kininogen deficiency vary from person to person, but may include:

-Frequent nosebleeds
-Easy bruising
-Excessive bleeding from cuts or injuries
-Prolonged bleeding after surgery or dental procedures
-Heavy menstrual bleeding
-Blood in the urine or stool
-Joint Pain and swelling
-Fatigue
-Fever
-Skin rash
-Anemia

What are the causes of Congenital high-molecular-weight kininogen deficiency?

Congenital high-molecular-weight kininogen deficiency is caused by mutations in the F12 gene, which is responsible for producing the high-molecular-weight kininogen protein. This protein is important for the normal functioning of the blood clotting system. Mutations in the F12 gene can lead to a decrease in the amount of high-molecular-weight kininogen protein produced, resulting in a deficiency of this protein. This deficiency can lead to an increased risk of bleeding and other clotting disorders.

What are the treatments for Congenital high-molecular-weight kininogen deficiency?

1. Replacement therapy: This involves replacing the missing kininogen with a synthetic form of the protein.

2. Plasma exchange: This involves removing the patient’s plasma and replacing it with donor plasma that contains the missing kininogen.

3. Antifibrinolytic therapy: This involves using drugs to reduce the breakdown of blood clots.

4. Anticoagulant therapy: This involves using drugs to reduce the risk of blood clots.

5. Diet modification: This involves avoiding foods that are high in sodium and increasing the intake of foods that are high in potassium.

6. Physical therapy: This involves exercises to improve muscle strength and coordination.

What are the risk factors for Congenital high-molecular-weight kininogen deficiency?

1. Family history of the disorder
2. Maternal exposure to certain medications, such as anticonvulsants, during pregnancy
3. Maternal infection during pregnancy
4. Maternal smoking during pregnancy
5. Maternal alcohol consumption during pregnancy
6. Maternal diabetes during pregnancy
7. Maternal obesity during pregnancy
8. Maternal age over 35 years old

Is there a cure/medications for Congenital high-molecular-weight kininogen deficiency?

There is currently no cure for Congenital high-molecular-weight kininogen deficiency. However, medications such as antifibrinolytics, antithrombotics, and anticoagulants may be used to reduce the risk of bleeding episodes. Additionally, regular monitoring of clotting factors and platelet counts is recommended to ensure that the patient is receiving the appropriate treatment.