factor VIII deficiency

Factor VIII Deficiency, also known as Hemophilia A

Factor VIII deficiency, also known as Hemophilia A, is a genetic bleeding disorder caused by insufficient levels of a blood protein called factor VIII [2]. This condition leads to an inability of the blood to clot properly, resulting in excessive and uncontrolled bleeding [4].

Characteristics of Factor VIII Deficiency:

• Inherited Disorder: Factor VIII deficiency is inherited in an X-linked recessive pattern, meaning that it primarily affects males who have only one X chromosome [7].
• Bleeding Symptoms: People with factor VIII deficiency may experience excessive and uncontrolled bleeding from cuts or injuries, after surgery or dental work, and from deep bruises [10].
• Reduced Factor VIII Activity: The condition is characterized by reduced activity of clotting factor VIII in the blood, leading to prolonged partial thromboplastin time (PTT) [6].

Causes and Risk Factors:

• Genetic Mutation: Factor VIII deficiency is caused by a genetic mutation that affects the production or function of clotting factor VIII.
• Inheritance: The condition is inherited from an affected mother who carries the mutated gene on her X chromosome.

References: [1] Not applicable [2] Hemophilia A, also known as classical hemophilia, is a genetic bleeding disorder caused by insufficient levels of a blood protein called factor VIII. [3] Not applicable [4] Mar 31, 2024 — Hemophilia A is a hereditary bleeding disorder caused by a lack of blood clotting factor VIII. Without enough factor VIII, the blood cannot clot properly to stop bleeding. [5] Not applicable [6] Clinical features · Epistaxis · Gingival bleeding · Persistent bleeding after trauma · Prolonged partial thromboplastin time · Reduced factor VIII activity. [7] If your factor VIII protein levels are low, you may have hemophilia A. Almost all people with hemophilia A are male. Women are generally only carriers of the mutated gene. [8] Not applicable [9] Not applicable [10] Aug 29, 2023 — Symptoms · Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work · Many large or deep bruises · Unusual ...

Understanding Factor VIII Deficiency Diagnosis

Factor VIII deficiency, also known as hemophilia A, is a genetic disorder that affects the blood's ability to clot. Diagnosing this condition requires a combination of medical history, physical examination, and laboratory tests.

Laboratory Tests for Factor VIII Deficiency

Several laboratory tests can help diagnose factor VIII deficiency:

• Factor VIII activity assays: These tests measure the level of factor VIII in the blood. A low level indicates factor VIII deficiency.
• Partial thromboplastin time (PTT): This test measures the time it takes for blood to clot. Prolonged PTT can indicate factor VIII deficiency.
• Coagulation studies: These tests evaluate the blood's ability to clot and can help identify factor VIII deficiency.

Screening Tests

In addition to laboratory tests, screening tests can also be used to diagnose factor VIII deficiency:

• Complete blood cell count (CBC): This test measures the number of red and white blood cells in the blood.
• Clotting factor tests: These tests evaluate the blood's ability to clot and can help identify factor VIII deficiency.

Importance of Accurate Diagnosis

Accurate diagnosis of factor VIII deficiency is crucial for developing an effective treatment plan. A correct diagnosis helps healthcare providers determine the severity of the condition, which in turn guides treatment decisions.

• Sensitivity and specificity: Different screening reagents show variable characteristics and receiver operating characteristic (ROC) curves, highlighting the importance of accurate diagnosis [10].
• Patient-tailored treatment strategy: The correct diagnosis of factor VIII deficiency and assessment of severity are essential for a patient-tailored treatment strategy [10].

References

[1] Oct 18, 2024 — Laboratory studies for suspected hemophilia include a complete blood cell count, coagulation studies, and a factor VIII (FVIII) assay. [4] [2] by HM Close — Umbilical cord blood testing is better at finding low levels of factor VIII ... Diagnosis includes screening tests and clotting factor tests. [5] [3] Feb 2, 2023 — The factor VIII assay is a blood test to measure the activity of factor VIII. This is one of the proteins in the body that helps the blood clot. [6] [4] A factor VIII activity blood test enables doctors to evaluate the functioning of a protein that helps blood to clot. [7] [5] Oct 4, 2023 — The primary lab tests for hemophilia are clotting ability tests. These assess the clotting abilities of factors VIII and IX. [8] [6] Doctors use blood tests to screen for and confirm a diagnosis of hemophilia. One preliminary blood test, called partial thromboplastin time, measures the amount ... [9] [7] Summary. The correct diagnosis of factor VIII defi-ciency and the assessment of severity of the disease are essential for a patient-tailored treatment strategy. An optimal diagnostic procedure comprises sensitive and specific tests. [10] [8] If a family member has an inherited factor deficiency, other close relatives may be tested to help confirm a diagnosis. An inherited factor VIII deficiency is called hemophilia A. [12] [9] Candidates for genetic testing include patients who have a diagnosis of hemophilia A or B, at-risk women who are related to an affected man (proband) who has a known mutation, and female carriers of hemophilia A or B seeking prenatal diagnosis ... Coagulation - Factor VIII deficiency (hemophilia A) Menu. Chapters By Subspecialty . Autopsy ... [13] [10] Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged bleeding after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor VIII clotting activity. [15]

Treatment Options for Factor VIII Deficiency

Factor VIII deficiency, also known as hemophilia A, is a genetic disorder that affects the blood's ability to clot properly. The treatment options for this condition have evolved significantly over the years and now include various medications and therapies.

• Prophylaxis: Regular injections of clotting factor medicine are typically required to prevent bleeding episodes in individuals with severe hemophilia.
• Factor Replacement Products: These products, including recombinant human FVIII concentrates, are used to replace the missing or defective clotting protein. They can be administered through a tube in a vein for initial treatment and subsequent doses to maintain trough levels above 50%.
• Gene Therapy: Roctavian, a gene therapy approved by the FDA in June 2023, offers a one-time injection into a vein that carries a gene for clotting factor VIII. This innovative approach has shown promise

Differential Diagnosis of Factor VIII Deficiency

Factor VIII deficiency, also known as hemophilia A, can be challenging to diagnose due to its similarity with other bleeding disorders. The differential diagnosis for factor VIII deficiency includes:

• Hemophilia B (factor IX deficiency): This is another type of hereditary bleeding disorder that can present with similar symptoms to factor VIII deficiency.
• Von Willebrand disease: A genetic disorder characterized by a deficiency or dysfunction of von Willebrand factor, which can lead to prolonged coagulation times and bleeding episodes.
• Vitamin K deficiency/antagonism with anticoagulants: Vitamin K plays a crucial role in blood clotting. Deficiency or antagonism of vitamin K can lead to bleeding disorders that may be mistaken for factor VIII deficiency.
• Haemophilia C (factor XI deficiency): A rare hereditary bleeding disorder caused by a deficiency of factor XI, which can present with similar symptoms to factor VIII deficiency.

Key Points

• Differential diagnosis is essential to accurately diagnose factor VIII deficiency and rule out other bleeding disorders.
• Hemophilia B, von Willebrand disease, vitamin K deficiency/antagonism with anticoagulants, and haemophilia C are all potential differential diagnoses for factor VIII deficiency.
• Specific coagulation factor assays can help differentiate between these conditions.

References

• [1] A similarly reduced level of factor V and factor VIII clotting activities in plasma, and finding other members in the same family ...
• [6] Differential diagnosis includes von Willebrand disease (VWD), including type 2N VWD and other coagulation anomalies leading to prolonged coagulation times, in ...
• [9] Differential diagnosis · Haemophilia B (factor IX deficiency). · Von Willebrand's disease. · Vitamin K deficiency/antagonism with anticoagulants. · Haemophilia C ( ...