Liver Manifestation of Atypical Hemolytic Uremic Syndrome Associated with Heterozygous Polymorphism C-332T>C in the Promoter of the Complement Factor H Gene - Case Report

Dorota Brodowska-Kania, Aleksandra Paturej, Ewa Kotwica-Strzałek, Marek Saracyn, Michał Nowicki and Stanisław Niemczyk

Department of Internal Medicine, Nephrology and Dialysis, Military Institute of Medicine, Poland
Department of Nephrology, Hypertension and Kidney Transplantation, Medical University of Lodz, Poland

^*Correspondance to: Ewa Kotwica-Strza?ek 

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Abstract:

Background: Primary atypical hemolytic uremic syndrome (aHUS) is caused by complement dysregulation. Diagnosis is based on determining the presence of hemolytic anemia, thrombocytopenia, and the presence of schistocytes in the peripheral blood smear and damage to internal organs - most commonly the kidneys. Liver involvement as the main symptom of the disease is rare, making it difficult to recognize.Case
Presentation: We present a case of a 65 year old woman whose clinical picture was dominated by weakness, vomiting, jaundice, disturbances of consciousness, as well as characteristics of liver and kidney damage. Laboratory tests showed typical features of hemolytic anemia Hgb 9.3g%, high LDH, low haptoglobin, thrombocytopenia 116x109/l, signs of renal damage: creatinine 3.6mg/dl, and elevated bilirubin level 5.5mg/dl. Manual differential blood smear stated 6% to 8% schistocytes. Establishing a diagnosis was possible after genetic testing, which showed only a heterozygous polymorphism in the promoter of the factor H gene. Eculizumab was not an option (lack of registration in Poland), thus other methods of treatment were sought (infusions of plasma, plasmapheresis and corticosteroids).Conclusion: Atypical hemolytic uremic syndrome is not always acute. For carriers of the mutated gene, the image of the disease may be incomplete and precede in a chronic way that delays diagnosis. Hepatic manifestation of aHUS is casuistic in medicine and probably results from damage to the vascular endothelial cells in small hepatic vessels.

Keywords:

Thrombotic microangiopathy; Atypical hemolytic-uremic syndrome; Complement factor H mutation; Case report

Cite the Article:

Brodowska-Kania D, Paturej A, Kotwica-Strzałek E, Saracyn M, Nowicki M, Niemczyk S. Liver Manifestation of Atypical Hemolytic Uremic Syndrome Associated with Heterozygous Polymorphism C-332T>C in the Promoter of the Complement Factor H Gene - Case Report. Ann Clin Case Rep. 2018; 3: 1529.