CONGENITAL AFIBRINOGENAEMIA Meaning and
Definition
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Congenital afibrinogenaemia is a rare inherited bleeding disorder characterized by a complete absence or severe deficiency of fibrinogen, a vital blood clotting protein. It is classified as a congenital disorder, meaning that it is present from birth and is caused by a genetic mutation.
Fibrinogen is produced primarily by the liver and plays a crucial role in the formation of blood clots. In individuals with congenital afibrinogenaemia, the lack or decrease in this protein leads to a compromised clotting system, resulting in a tendency to bleed excessively. This condition is inherited in an autosomal recessive manner, meaning that an individual needs to inherit two copies of the mutated gene (one from each parent) to develop the disorder.
The symptoms of congenital afibrinogenaemia can vary in severity depending on the degree of fibrinogen deficiency. Some individuals may only experience mild symptoms, such as nosebleeds or easy bruising, while others may have spontaneous bleeding in muscles, joints, or internal organs. Women with the disorder may also have heavy or prolonged menstrual bleeding.
Diagnosis of congenital afibrinogenaemia is typically confirmed through blood tests that measure fibrinogen levels. Treatment often involves the administration of fibrinogen replacement therapy, in which commercially prepared fibrinogen is infused into the bloodstream to prevent or control bleeding episodes.
While congenital afibrinogenaemia is a lifelong condition, proactive management and appropriate medical intervention can help individuals lead relatively normal lives and prevent complications associated with bleeding. Genetic counseling can be beneficial for affected individuals and their families to understand the inheritance pattern and make informed decisions.
Common Misspellings for CONGENITAL AFIBRINOGENAEMIA
- xongenital afibrinogenaemia
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Etymology of CONGENITAL AFIBRINOGENAEMIA
The word "congenital afibrinogenaemia" is derived from several components:
1. Congenital: This term comes from the Latin word "congenitus", meaning "born with" or "existing from birth". It refers to a condition or disorder that is present or acquired at birth.
2. Afibrinogenaemia: This term is a combination of "a-" (meaning "without" or "lacking"), "fibrino-" (referring to fibrin, a protein involved in blood clotting), and "-genaemia" (indicating "presence in the blood"). Hence, "afibrinogenaemia" describes a medical condition characterized by the absence or deficiency of fibrinogen in the blood.
