PT  - JOURNAL ARTICLE
AU  - Taylor, Sara
AU  - Nguyen, Ly
AU  - Piedra, Beija
AU  - Walters, Melissa
TI  - Diagnosis of Atypical HUS Using Genetic Testing
AID  - 10.29074/ascls.2018000646
DP  - 2019 Jan 01
TA  - American Society for Clinical Laboratory Science
PG  - 8--12
VI  - 32
IP  - 1
4099  - http://hwmaint.clsjournal.ascls.org/content/32/1/8.short
4100  - http://hwmaint.clsjournal.ascls.org/content/32/1/8.full
SO  - Clin Lab Sci2019 Jan 01; 32
AB  - The patient was a 33-year-old woman at 31 weeks gestation with twins who presented to the emergency department complaining of shortness of breath, headache, and blurry vision. The patient’s preliminary complete blood count, red blood cell morphology, coagulation testing, and certain metabolic indicators were characteristic of a hemolytic process caused by microcirculatory lesions known as thrombotic microangiopathies. The major pathologies of this hemolytic process are thrombotic thrombocytopenic purpura, hemolytic uremic syndrome (HUS), disseminated intravascular coagulation, and hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome. Additional coagulation and biochemical testing indicated that the patient probably was experiencing HELLP syndrome, but atypical HUS (aHUS) could not be ruled out. Consequently, an aHUS genetic susceptibility panel was also ordered for this patient. The results of the genetic testing revealed that the patient did indeed have aHUS, a disease of complement dysregulation. In approximately 50% of patients, mutations have been described in the genes that encode complement regulator factors. With an accurate diagnosis established, the patient was able to receive treatment using an anti-C5 monoclonal antibody aimed specifically at controlling the dysregulated complement protein C5.