Systemic Lupus Erythematosus Presenting as Refractory Thrombotic Thrombocytopenic Purpura: A Diagnostic and Management Challenge. A Case Report and Concise Review of the Literature

Abstract

Patient: Female, 34Final Diagnosis: Refractory thrombotic thrombocytopenic purpuraSymptoms: FatigueMedication: —Clinical Procedure: Plasma exchangeSpecialty: Rheumatology • Hematology and Critical CareObjective:Rare co-existance of disease or pathologyBackground:Thrombotic thrombocytopenic purpura (TTP) is one of the thrombotic microangiopathic (TMA) syndromes, caused by severely reduced activity of the vWF-cleaving protease ADAMTS13. Systemic lupus erythematosus (SLE), on the other hand, is an autoimmune disease that affects various organs in the body, including the hematopoietic system. SLE can present with TMA, and differentiating between SLE and TTP in those cases can be very challenging, particularly in patients with no prior history of SLE. Furthermore, an association between these 2 diseases has been described in the literature, with most of the TTP cases occurring after the diagnosis of SLE. In rare cases, TTP may precede the diagnosis of SLE or occur concurrently.Case Report:We present a case of a previously healthy 34-year-old female who presented with dizziness and flu-like symptoms and was found to have thrombocytopenia, hemolytic anemia, and schistocytes in the peripheral smear. She was subsequently diagnosed with TTP and started on plasmapheresis and high-dose steroids, but without a sustained response. A diagnosis of refractory TTP was made, and she was transferred to our facility for further management. Initially, the patient was started on rituximab, but her condition continued to deteriorate, with worsening thrombocytopenia. Later, she also fulfilled the Systemic Lupus International Collaborating Clinics (SLICC) criteria for diagnosis of SLE. Treatment of TTP in SLE patients is generally similar to that in the general population, but in refractory cases there are few reports in the literature that show the efficacy of cyclophosphamide. We started our patient on cyclophosphamide and noticed a sustained improvement in the platelet count in the following weeks.Conclusions:Thrombotic thrombocytopenic purpura is a life-threatening hematological emergency which must be diagnosed and treated in a timely manner. Refractory cases of TTP have been described in the literature, but without clear evidence-based guidelines for its management, and is solely based on expert opinion and previous case reports. Further studies are needed to establish guidelines for its management. We present this case to highlight the role that cyclophosphamide might carry in those cases and to be a foundation for these future studies.

Case Report: Systemic lupus erythematous associated with thrombotic thrombocytopenic purpura, a diagnostic challenge

“…TTP occurs in about 2% of patients with SLE. 2,3 TTP manifestation after SLE has been more frequent than both appearing simulteanously. 4 This case report is about a young woman who appears for the first time with SLE associated with TTP.…”

“…The occurrence of both entities at the same time is a rare presentation; generally, TTP is a complication in patients with SLE. 2,3 The clinical picture of both entities is somewhat similar because they share clinical characteristics that can overlap. It is difficult to make the diagnostic differentiation in the first instance, which delays the decision with regards to the correct treatment.…”

Acquired Thrombotic Thrombocytopenic Purpura in a Patient with Pernicious Anemia

“…Cooccurrences of TTP with other autoimmune diseases have been reported. Multiple case reports have described the development of TTP in the background of SLE [ 9 – 11 , 20 , 21 ]. Similarly, there are cases of cooccurrence of Sjögren's syndrome and TTP [ 12 , 22 – 24 ].…”

Systemic Lupus Erythematosus (SLE) with Acute Nephritis, Antineutrophil Cytoplasmic Antibody- (ANCA-) Associated Vasculitis, and Thrombotic Thrombocytopenic Purpura (TTP): A Rare Case Report with Literature Review

“…A literature search using the databases Pubmed, Web of Science, Cochrane, and Google Scholar identified a review of 105 cases of TTP associated with SLE between 1999 and 2011 [9] and four more recent case reports. Here, we illustrate the findings of one large literature review [9] and provide a table with summary of four more recent case reports [4,5,10,11].…”

“…In the four individualized case reports [4,5,10,11], treatment plans consisted of either plasma exchange, IV methylprednisolone, oral prednisone therapy, cyclophosphamide, and/or hydroxychloroquine. All patients had resolution of acute TTP crisis as well as a return to baseline of laboratory levels measured.…”