The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage.
Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare disorder associated with platelet abnormalities resembling gray platelet syndrome. Affected patients have normal platelet numbers but abnormal morphology and function. Bleeding symptomatology ranges from postprocedural to spontaneous life-threatening hemorrhage. We report a patient with ARC syndrome and compound heterozygous mutations in VPS33B (vacuolar protein sorting 33B) who presented with significant bleeding requiring numerous admissions and transfusions. She was treated with prophylactic platelet transfusions and ε-aminocaproic acid. This was well-tolerated and significantly decreased transfusion requirements and admissions for bleeding. Our experience provides support for consideration of prophylactic measures in these patients as well as the possibility of using prophylaxis in related disorders.
Angela C
AC
Weyand
Rebecca M
RM
Lombel
Steven W
SW
Pipe
Jordan A
JA
Shavit
D015119:Aminocaproic Acid / Q000627:therapeutic use*; D001176:Arthrogryposis / Q000150:complications* / Q000235:genetics / Q000628:therapy*; D001792:Blood Platelets / Q000473:pathology / Q000502:physiology*; D002779:Cholestasis / Q000150:complications* / Q000235:genetics / Q000628:therapy*; D005260:Female; D006470:Hemorrhage / Q000150:complications*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D017713:Platelet Transfusion; D051437:Renal Insufficiency / Q000150:complications* / Q000235:genetics / Q000628:therapy*; D033921:Vesicular Transport Proteins / Q000235:genetics
C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins; D015119:Aminocaproic Acid
ARC syndrome; epsilon aminocaproic acid; gray platelet syndrome; hemorrhage; platelet function disorder; platelets