Hereditary factor XI deficiency
ICD-10 D68.1 is a billable code used to indicate a diagnosis of hereditary factor xi deficiency.
Hereditary factor XI deficiency is a rare genetic bleeding disorder characterized by a deficiency in factor XI, a crucial protein in the coagulation cascade. This condition is inherited in an autosomal recessive manner, leading to reduced levels of factor XI in the blood, which can result in prolonged bleeding episodes. Patients may experience spontaneous bleeding, particularly after trauma or surgery, and may also have a higher risk of bleeding during dental procedures. Unlike hemophilia A and B, which are deficiencies of factor VIII and IX respectively, factor XI deficiency can present with a milder bleeding phenotype, making diagnosis challenging. The condition is often identified through laboratory tests that reveal prolonged activated partial thromboplastin time (aPTT) without a corresponding increase in prothrombin time (PT). Management typically involves the use of fresh frozen plasma or factor XI concentrates during surgical procedures or in the event of significant bleeding. Genetic counseling is recommended for affected families to understand the inheritance pattern and implications for future offspring.
Detailed history of bleeding episodes, family history, and results of coagulation studies.
Patients presenting with unexplained bleeding, especially post-surgery or trauma.
Ensure accurate documentation of factor XI levels and any interventions performed.
Genetic testing results and family pedigree charts.
Counseling families with a history of bleeding disorders.
Document the inheritance pattern and implications for family members.
Used to confirm diagnosis of factor XI deficiency.
Document the reason for the test and the patient's clinical history.
Hematology specialists should ensure that all relevant factors are considered in the interpretation of results.
Common symptoms include easy bruising, prolonged bleeding after injuries or surgeries, and spontaneous bleeding episodes, particularly in the mucosal areas.
Diagnosis is typically made through laboratory tests that measure factor XI levels and assess coagulation function, particularly the activated partial thromboplastin time (aPTT).
