Hereditary/Acquired Bleeding Disorders

A team of clinicians from Damascus, Syria, reports what they assert is the first published case study to mention an association between 2 inherited rare disorders: nephropathic cystinosis (NC) and von Willebrand disease (VWD) type 3. Their 16-year-old patient presented with uremic symptoms caused by end-stage renal disease (ESRD). As the authors explain, NC is a rare autosomal recessive disease that causes cysteine crystals to accumulate in the kidney, with progression to ESRD; and VWD type 3 is a rare von Willebrand factor (VWF) abnormality characterized by severe reduction of VWF and factor VIII activity. "While renal transplant remains the treatment of choice of NC and superior to chronic [hemodialysis], bleeding complications were a major concern in this case with coexisting VWD type III," because extra blood products had to be prepared and administered as needed to perform the transplantation, the authors said. Renal transplantation was successfully performed due to "meticulous implementation of the Hematology team's daily recommendations," they wrote, concluding that "successful kidney transplantation in our patient supports the possibility of these procedures in hereditary clotting disorders."