Thrombotic microangiopathy in a patient with systemic lupus erythematosus and systemic sclerosis overlap syndrome: a case report and review of the literature
5 affiliations
- 1Department of Internal Medicine, Jefferson Einstein Philadelphia Hospital
- 2Department of Internal Medicine, King Hussein Cancer Center
- 3Department of Internal Medicine, Saint Francis Hospital
- 4Department of Internal Medicine, New York Medical College at Saint Michael’s Medical Center
- 5Department of Hematology and Oncology, Sidney Kimmel Comprehensive Cancer CenterJefferson Einstein Philadelphia Hospital
Abstract
Background Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare, life-threatening thrombotic microangiopathy (TMA) caused by autoantibody-mediated severe deficiency of ADAMTS13. Its occurrence in the setting of connective tissue disease (CTD) overlap syndromes presents a significant diagnostic challenge given the broad differential of thrombotic microangiopathy in this population. Case Presentation We report a 32-year-old woman with systemic lupus erythematosus and systemic sclerosis overlap syndrome who presented with microangiopathic hemolytic anemia, severe thrombocytopenia, and neurological symptoms. A PLASMIC score was calculated and returned at a high risk for TTP (6). ADAMTS13 activity was confirmed at < 0.03 IU/mL (< 3% activity) with an inhibitor titer of 9.8 Bethesda units, establishing the diagnosis of iTTP. Systematic exclusion of competing thrombotic microangiopathies including scleroderma renal crisis, catastrophic antiphospholipid syndrome, typical and atypical hemolytic uremic syndrome (HUS), malignant hypertension associated TMA, drug induced TMA, pregnancy associated TMA, and disseminated intravascular coagulation was essential given the distinct and sometimes conflicting therapeutic implications of each diagnosis. Treatment with plasma exchange, corticosteroids, caplacizumab, and rituximab resulted in clinical recovery over a 12-day hospitalization. Conclusions This case highlights the diagnostic complexity of thrombotic microangiopathy in CTD overlap syndromes, the importance of ADAMTS13 testing and systematic exclusion of competing diagnoses, and the critical role of empirical plasma exchange guided by the PLASMIC score while confirmation is pending.
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BibTeX
@article{alriyalat2026thrombotic,
title = {{Thrombotic microangiopathy in a patient with systemic lupus erythematosus and systemic sclerosis overlap syndrome: a case report and review of the literature}},
author = {Ahmad Al-Riyalat and Tawfiq Barqawi and Laith Sorour and Ahmad Habbas and John Leighton and Alankrita Taneja},
journal = {Journal of Rare Diseases},
year = {2026},
month = oct,
doi = {10.1007/s44162-026-00247-6},
url = {https://doi.org/10.1007/s44162-026-00247-6},
note = {CC BY},
}
RIS
TY - JOUR
TI - Thrombotic microangiopathy in a patient with systemic lupus erythematosus and systemic sclerosis overlap syndrome: a case report and review of the literature
AU - Ahmad Al-Riyalat
AU - Tawfiq Barqawi
AU - Laith Sorour
AU - Ahmad Habbas
AU - John Leighton
AU - Alankrita Taneja
PY - 2026
DA - 2026/10/25
JO - Journal of Rare Diseases
DO - 10.1007/s44162-026-00247-6
UR - https://doi.org/10.1007/s44162-026-00247-6
AB - Background Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare, life-threatening thrombotic microangiopathy (TMA) caused by autoantibody-mediated severe deficiency of ADAMTS13. Its occurrence in the setting of connective tissue disease (CTD) overlap syndromes presents a significant diagnostic challenge given the broad differential of thrombotic microangiopathy in this population. Case Presentation We report a 32-year-old woman with systemic lupus erythematosus and systemic sclerosis overlap syndrome who presented with microangiopathic hemolytic anemia, severe thrombocytopenia, and neurological symptoms. A PLASMIC score was calculated and returned at a high risk for TTP (6). ADAMTS13 activity was confirmed at < 0.03 IU/mL (< 3% activity) with an inhibitor titer of 9.8 Bethesda units, establishing the diagnosis of iTTP. Systematic exclusion of competing thrombotic microangiopathies including scleroderma renal crisis, catastrophic antiphospholipid syndrome, typical and atypical hemolytic uremic syndrome (HUS), malignant hypertension associated TMA, drug induced TMA, pregnancy associated TMA, and disseminated intravascular coagulation was essential given the distinct and sometimes conflicting therapeutic implications of each diagnosis. Treatment with plasma exchange, corticosteroids, caplacizumab, and rituximab resulted in clinical recovery over a 12-day hospitalization. Conclusions This case highlights the diagnostic complexity of thrombotic microangiopathy in CTD overlap syndromes, the importance of ADAMTS13 testing and systematic exclusion of competing diagnoses, and the critical role of empirical plasma exchange guided by the PLASMIC score while confirmation is pending.
SN - 2731-085X
ER -