Case Report of a Peculiar Presentation of Hereditary Complement-Mediated Thrombotic Microangiopathy

Sabina Kumar¹, Chukwuemeka Umeh¹, Prithi Choday¹, John Carvalho¹, Sobiga Ranchithan², Sumanta Chaudhuri¹ and Pranav Barve^1,

¹Department of Internal Medicine, Hemet Global Medical Center, Hemet, California, USA

²American University of Antigua

Cite this paper

Sabina Kumar, Chukwuemeka Umeh, Prithi Choday, John Carvalho, Sobiga Ranchithan, Sumanta Chaudhuri and Pranav Barve. Case Report of a Peculiar Presentation of Hereditary Complement-Mediated Thrombotic Microangiopathy. American Journal of Medical Case Reports. 2022; 10(5):117-121. doi: 10.12691/AJMCR-10-5-1

Abstract

Thrombotic microangiopathies (TMAs) are clinical conditions classified by a combination of low platelets causing microthrombi, which can ultimately lead to hemolytic anemia. The most common conditions include thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). In this case report, we focused on a rare subtype of HUS. A 25-year old female presented to our tertiary care facility from a community hospital with nausea, vomiting, and bloody diarrhea after consuming mussels. A presumptive diagnosis of TTP was given and unfortunately treatment efforts did not improve the patient’s status. Investigative laboratory studies showed leukocytosis, thrombocytopenia, presence of schistocytes on peripheral smear, and no evidence of hemoglobinuria. The patient had negative Shiga toxin and E.coli 0157 and imaging showed diffuse colitis. Despite antibiotics, dialysis and plasmapheresis efforts, the patient’s condition worsened and she developed severe sepsis and was then intubated. At that point, an atypical HUS genetic test result demonstrated a heterozygous missense variant, and she was emergently started on eculizumab and steroids which improved her condition. This case illustrates an atypical presentation for thrombotic microangiopathy, complicated by significant multiorgan dysfunction.

Keywords

Thrombotic microangiopathy, thrombotic thrombocytopenic purpura (TTP), atypical hemolytic uremic syndrome (aHUS), thrombocytopenia, anemia, microthrombi, Escherichia coli 0157:H7, complement, Eculizumab, plasmapheresis, pregnancy

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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