Question

Discuss the approach to diagnosis in a patient suspected of having Factor XIII deficiency?

Hint:

Factor XIII deficiency is diagnosed through specific assays measuring FXIII activity, as standard coagulation tests like PT and aPTT are typically normal.

Answer 1

Step 1: Understanding Factor XIII Deficiency.
Factor XIII (FXIII) deficiency is a rare bleeding disorder that results in defective fibrin clot stabilization, leading to prolonged bleeding after trauma or surgery. Diagnosis is often challenging, as patients may not exhibit symptoms until later in life. The clinical presentation may include spontaneous or prolonged bleeding episodes, including umbilical bleeding in neonates, easy bruising, and menorrhagia in females.

Step 2: Diagnostic Approach.
The diagnostic workup for Factor XIII deficiency involves: 1. Clinical history: Detailed bleeding history, including any spontaneous bleeding, easy bruising, or abnormal bleeding after surgical procedures.
2. Screening tests: Standard coagulation tests such as PT, aPTT, and platelet count are usually normal in Factor XIII deficiency. These tests are often used to rule out other bleeding disorders.
3. Factor XIII activity assay: The definitive diagnostic test is the measurement of Factor XIII activity. A clot solubility test (e.g., urea clot test) can confirm the diagnosis. Reduced FXIII levels confirm the deficiency.