Classical factor X deficiency. Report of a further case

Area of Science:

• Hematology
• Coagulation Disorders
• Genetics

Background:

• Factor X deficiency is a rare inherited bleeding disorder affecting hemostasis.
• Classical factor X deficiency presents with variable bleeding symptoms from early childhood.

Observation:

• A 28-year-old male presented with a history of easy bruising, epistaxis, hematomas, hematuria, and hemarthrosis.
• Laboratory findings included a prolonged prothrombin time corrected by normal serum, abnormal partial thromboplastin time, prothrombin consumption, and thromboplastin generation tests.
• Thromboelastography revealed prolonged 'K' and 'r' times with a normal 'ma', and factor X levels were below 1%.

Findings:

• The patient's coagulation defect was corrected by plasma from patients with factor II or VII deficiencies, but not by factor X deficient plasma.
• Electrophoretic analyses did not detect factor X bands or precipitates.
• Family studies identified heterozygous carriers among non-consanguineous parents and relatives.

Implications:

• This case highlights the diagnostic challenges and characteristic laboratory profile of classical factor X deficiency.
• Understanding the genetic basis and inheritance patterns is crucial for genetic counseling and family screening.
• Accurate diagnosis of factor X deficiency is essential for appropriate management and prevention of bleeding complications.