Case Study: GI Bleed in a Patient with Amyloidosis
A board-style question with an explanation and a link to a relevant article is a recurring feature of TraineE-News. The goal of the case study is to clarify specific and timely teaching points in the field of hematology. The following case study focuses on a 59-year-old male who is seen by his cardiologist for a new restrictive cardiomyopathy. He is found to also have an elevated serum creatinine, and, with concern for amyloidosis, the patient undergoes a fat pad biopsy. Pathologic evaluation displays apple-green birefringence under polarized light when stained with Congo red dye. You see him in clinic shortly thereafter. His physical exam is unremarkable except for a loud S4 on auscultation of the heart and mild hepatomegaly. Further laboratory work-up reveals an elevation of his λ free light chains along with an increased number of plasma cells in the bone marrow. His CBC is below.
| Hemoglobin | 10.2 g/dL | (13.5-17.5 g/dL) |
| WBC | 6.8 K/µL | (4.0- 11.0 K/µL) |
| Platelet count | 154 K/µL | (150-400 K/µL) |
You plan on treating him with bortezomib-based regimen in three days, but he is admitted to the hospital prior with a GI bleed. Labs on admission to the hospital are as follows.
| Hemoglobin | 8.8g/dL | (13.5-17.5 g/dL) |
| WBC | 6.1 K/µL | (4.0-11.0 K/µL) |
| Platelet count | 168 K/µL | (150- 400 K/µL) |
| Prothrombin time | 17 sec. | (11- 13.5 sec.) |
What is the most likely etiology of the patient's bleeding?
- Factor II deficiency
- Glanzman thrombasthenia
- Acquired von Willebrand factor deficiency
- Factor VIII deficiency
- Factor X deficiency
Answer
- Factor X deficiency
Explanation
In patients with immunoglobulin light-chain (AL)-amyloidosis, bleeding complications have been well described. The most common culprit for abnormal hemostasis that has been reported is factor X deficiency, occurring in 8.7 to 14 percent of patients with AL-amyloidosis. It is thought that the factor X is absorbed by the amyloid fibrils. Other factor deficiencies have been found in patients with AL-amyloidosis, but they are extremely rare. The most common sites of hemorrhage in patients with a factor X deficiency and AL-amyloid are cutaneous followed by the GI tract. In patients who are treated for their amyloidosis and achieve a complete remission, factor X levels almost always return to normal.
References
- Mumford AD, O’Donnell J, Gillmore JD, et al. Bleeding symptoms and coagulation abnormalities in 337 patients with AL-amyloidosis. Br J Haematol. 2000;110:454-460.
- Choufani EB, Sanchorawala V, Ernst T, et al. Acquired factor X deficiency in patients with amyloid light-chain amyloidosis: incidence, bleeding manifestations, and response to high-dose chemotherapy. Blood. 2001;97:1885-1887.
Case study submitted by Mark A. Walshauser, MD, Loyola University, Maywood, IL, Trainee Council Member.
