Case Presentation: Our patient is a 39 year old G2 P0111 female with PMH of Type 1 diabetes mellitus and Hashimoto’s thyroiditis, s/p NSVD at 34 weeks due to previous pre-eclampsia (occurring 1 month prior to admission), who complained of acute dyspnea on exertion, orthopnea, lower extremity edema, and a 1-month history of fatigue and subjective fever. She was afebrile (98.3℉), tachycardic (106 bpm), normotensive (115/80 mmHg), and saturating at 95% on room air. Physical exam was notable for her being AAO x 3, tachycardic with regular rhythm, coarse bibasilar inspiratory crackles, 3+ bilateral lower extremity, RUQ tenderness without hepatomegaly, splinter hemorrhages, and livedo reticularis rash on her thighs.Laboratory studies were notable for normocytic anemia (Hgb 7 gm/dL) and thrombocytopenia (PLT 103 1000/mm³) without evidence of microangiopathic hemolytic anemia. She had non-oliguric AKI, with a UA showing 2+ protein and 2+ blood. AST was mildly elevated (34 Units/L). INR was 1.2. She had elevated hsTnT of 1860 ng/L and pro-BNP of 19,000 pg/mL. ECG showed sinus tachycardia, without acute ST segment changes. CXR confirmed mild interstitial pulmonary edema. Transthoracic echocardiogram showed reduced ejection fraction of 35%. Cardiac MRI showed no evidence of ischemic scarring or myocarditis. There was no vessel thrombosis on renal ultrasound. Abdominal ultrasound showed hepatic necrosis. Significant results included positive dilute Russell’s viper venom test, anticardiolipin antibodies, and anti-β2 glycoprotein I antibodies with decreased C3 and C4. Serum ANA was negative.
Given her pregnancy morbidity, multi-organ system involvement, cytopenia, APS marker positivity, and in the absence of an alternate diagnosis, there was strong clinical suspicion for catastrophic antiphospholipid antibody syndrome (APS). Treatment of therapeutic anticoagulation, prednisone 1 mg/kg daily, and plasma exchange led to her clinical improvement. She has follow-up planned with multiple subspecialists for further management.
Discussion: APS is a systemic autoimmune disease characterized by venous or arterial thrombosis and/or pregnancy-related morbidity associated with positive antiphospholipid (aPL) markers (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-β2 glycoprotein I antibodies). Our patient fits into the small percentage of APS patients who develop catastrophic APS, which is characterized by vascular occlusive events affecting small vessels over a short period of time and with positive aPL antibodies.
Conclusions: This case exemplifies the collaborative effort between different providers to diagnose and manage our patient, who fortunately had a positive outcome. Although catastrophic APS develops in less then 1% of patients with APS, mortality rates can reach up to 50%. More prospective studies using large-scale registries, such as the CAPS registry, may improve outcomes with patients diagnosed with catastrophic APS.