TAFRO syndrome: A case report with biopsy findings from three sites

Introduction/Objective TAFRO syndrome (thrombocytopenia, anasarca, fever, reticulin fibrosis, and organomegaly) is a rare systemic inflammatory disorder. First reported in 2010, the majority of cases are from Japan, where it is currently regarded as a subtype of HHV8-negative Multicentric Castleman Disease. Methods/Case Report We report a case of TAFRO occurring in a 17-year old from Puerto Rico. She originally presented with abdominal pain, vomiting, and fever, and was also found to have splenomegaly, elevated sedimentation rate and C-reactive protein. Over the course of the next several days she developed respiratory distress, requiring ventilatory support, and anuric renal failure. Renal biopsy demonstrated evidence of thrombotic microangiopathy, which was interpreted as atypical hemolytic syndrome, requiring dialysis and treated with eculizumab. Because other diagnostic considerations at the time also included hemophagocytic lymphohistiocytosis and catastrophic antiphospholipid syndrome, bone marrow examination was performed which demonstrated increased megakaryocytes, without fibrosis or hemophagocytosis. Over the next two months, she developed anasarca with ascites, pleural effusion, pericardial effusion, multiple enlarged axillary and cervical lymph nodes, and persistence of splenomegaly. Biopsy of a left cervical lymph node demonstrated features suggestive of Castlemans disease, plasma cell variant. The constellation of symptoms, laboratory investigations and biopsy diagnoses support the diagnosis of TAFRO syndrome. The patient received rituximab, high dose steroids, and hemodialysis with clinical improvement. At 16 months follow up, the patient is in remission. Results (if a Case Study enter NA) NA Conclusion From a pathology standpoint, the case provides biopsy findings of three distinct organ systems all with relatively unusual findings that together are characteristic of TAFRO syndrome. It highlights the risk of accepting “biopsy proven” diagnoses such as atypical hemolytic uremic syndrome that also require significant laboratory and clinical correlation for true confirmation, and points out the importance and opportunity for pathologists to see the forest along with the trees in order to recognize rare diseases such as TAFRO.