Coagulopathy in amyloidosis: Combined deficiency of factors IX and X

Abstract

Combined severe deficiencies of blood clotting factors IX and X were observed in 2 patients who suffered from systemic amyloidosis. This unique deficiency state was marked by refractoriness to Vitamin K as well as to transfusion therapy. Increased antithrombin activity was present in both individuals and corresponded in time to the emergence of a monoclonal IgG kappa light chain paraprotein in 1. Both patients demonstrated profound bleeding disorders. It is hypothesized that the Vitamin K dependent factors have special affinity for amyloid deposits due to an unusual amino acid (gamma-carboxyglutamic acid) present in these factors.

The lung in amyloidosis

“…An increased risk of haemorrhage has been reported with organ biopsy, with <5% bleeding complications in liver biopsies [8] where the transjugular approach should be preferred. The risk of haemorrhage should be considered when performing endobronchial or transbronchial biopsies, particularly in patients with factor IX and X deficiencies [9,10]. Less invasive procedures, such as fine needle aspiration, have been attempted successfully [11,12].…”

Coagulopathy in a patient with nephrotic syndrome

“…However, neither INR nor aPTT correlated well with the factor X levels [5]. Deficiencies of other coagulation factor deficiencies may coincide; these include factor IX deficiency [14], factor XII deficiency [15], von Willebrand factor deficiency [16], and factor V deficiency [17].…”

Spontaneous rupture of the spleen in AL amyloidosis

“…Two of these 17 reported patients had Factor X deficiency. Various acquired deficiencies of coagulation factors have been reported in AL amyloidosis, Factor X deficiency being the most common [29,30]. We have reported that serum Factor X deficiency (<25%) was documented in 8.7% of patients with AL amyloidosis evaluated at our center [31].…”