Background: Atypical haemolytic uraemic syndrome (aHUS) results from uncontrolled complement system activation. Complement factor H gene mutations are common causes of aHUS. Plasmatherapy, including plasma infusions and/or plasma exchanges, has been tried in this setting with various successes. At present, we lack a specific marker to monitor functional factor H deficiency-related aHUS.
Methods: We report the use of factor H functional assay in three patients with atypical haemolytic uraemic syndrome. This assay is based on the requirement of soluble complement regulators that bind sheep red cells to prevent haemolysis. As factor H is highly abundant in the plasma, its defect results in haemolysis. Factor H activity was also measured among plasma donors.
Results: One patient suffered from a plasma-dependent form of atypical haemolytic uraemic syndrome. Plasma exchanges restored higher factor H activity and were associated with a 15-months disease-free period. In the two other patients, one with a failing renal graft and the other on chronic dialysis, a bout of thrombotic microangiopathy was preceded by a drop of haemolytic activity below normal values. Plasma from healthy donors (N=65) showed only minimal variations of Factor H activity (mean activity: 98.3%, SD=4.0).
Conclusion: These preliminary data suggest that factor H activity could be of interest in both the diagnosis and the treatment by plasmatherapy of factor H-related aHUS.