Case Report 36-Year-Old Female with Catastrophic Antiphospholipid Syndrome Treated with Eculizumab: A Case Report and Review of Literature

Catastrophic antiphospholipid syndrome (CAPS) is a rare but potentially life-threatening condition characterized by diffuse vascular thrombosis, leading to multiple organ failure developing over a short period of time in the presence of positive antiphospholipid antibodies (aPL). CAPS is a severe form of antiphospholipid syndrome, developing in about 1% of cases of classic antiphospholipid syndrome, manifesting as microangiopathy, affecting small vessels of multiple organs. It is acute in onset, with majority of cases developing thrombocytopenia and less frequently hemolytic anemia and disseminated intravascular coagulation. Lupus anticoagulant and anticardiolipin antibodies have been reported as predominant antibodies associated with CAPS. Treatment options often utilized in CAPS include anticoagulation, steroids, plasma exchange, cyclophosphamide therapy, and intravenous immunoglobulin therapy. Even though the reported incidence of this condition is considered to be low, the mortality rate is approaching 50%. The high rate of mortality should warrant greater awareness among clinicians for timely diagnosis and treatment of this life-threatening condition. Studies have shown that complement activation plays a key role in the pathogenesis of aPL mediated thrombosis in CAPS. We report a case of a 36-year-old female admitted with clinical and laboratory findings consistent with CAPS successfully treated with eculizumab, a terminal complement inhibitor. Case Presentation We would like to present a case of a 36-year-old female who was admitted to our hospital after being found in the bathtub with decreased responsiveness and profound weakness. The patient had no medical problems and had been in her usual state of health until one month before admission when she developed frequent headaches and blurry vision. Per family the patient had become more withdrawn recently and was not allowing anyone to visit her home. On examination in the Emergency Department, the patient was found to be hypertensive, to have blood pressure of 207/148 mmHg, to have heart rate of 110 beats per minute, and appeared confused and dehydrated, with multiple bruises over her body. Laboratory examination revealed white blood cell (WBC) count of 20.5/nL, hemoglobin of 12.3 g/dL, and platelets of 44,000/ L. Patient's renal function was altered, presenting anion gap metabolic acidosis (suspected starvation ketosis) and respiratory alkalosis. Creatinine on admission was noted to be 7.0 mg/dL. Prothrombin time (PT) was 11.6 sec (reference range: 9.5-12.2 sec), activated partial thromboplastin time (aPTT) was 21.5 sec (reference range: 20.1-31.2 sec), and fibrinogen was 345 mg/dL. Mixing study was not performed at the time, since coagulation panel did not show prolongation of PTT. Troponins were elevated with no ST segment changes on electrocardiography compatible with non-ST segment myocardial infarction (NSTEMI). Ophthalmology was consulted and stated that visual loss and color blindness was likely secondary to intraretinal hemorrhage. A computed tomography (CT) of the brain was performed, whic

The OnControl bone marrow biopsy technique is superior to the standard manual technique for hematologists-in-training: a prospective, randomized comparison

The purpose of this study was to compare a novel bone marrow device with the standard marrow needle in a prospective, randomized study in a teaching hospital employing hematologists-in-training. The new device, the OnControl Bone Marrow (OBM) Biopsy System, utilizes a battery-powered drill to insert the needle. Fifty-four bone marrows (27 standard and 27 OBM) were performed by 11 fellows under the observation and supervision of 3 attending hematologists and 1 research technologist. The primary endpoint of the study, the mean length of the marrow biopsy specimens, a surrogate for marrow quality, was determined by a pathologist in a blinded manner. The mean length of the marrow biopsy specimens was significantly longer (56%) for the OBM group (15.3 mm) than for the standard bone marrow (SBM) group (9.8 mm), P<0.003. An objectively determined secondary endpoint; mean procedure time, skin-to-skin; also favored the OBM group (175 s) versus the SBM group (292 s), P<0.007. Several subjective secondary endpoints also favored the OBM group. Only minor adverse events were encountered in the OBM and SBM study groups. It was concluded that bone marrow procedures (BMPs) performed by hematologists-in-training were significantly faster and superior in quality when performed with the OBM compared to the SBM. These data suggest that the OBM may be considered a new standard of care for adult hematology patients. OBM also appears to be a superior method for training hematology fellows

A Rare Cause of Acquired Immune Deficiency Syndrome Related Pancytopenia

A 21-year-old male with acquired immune deficiency syndrome, not on highly active antiretroviral treatment (HAART) was admitted after complaining of headache and intermittent diarrhea, found to have Cryptococcal meningitis. During the course of his hospitalization, patient developed pancytopenia. Anemia panel, serologies including Epstein barr virus, cytomegalovirus, and parvovirus were negative. Patient then developed high grade fever with elevated liver enzymes. Blood cultures, urine cultures, stool cultures, and repeat cerebrospinal fluid cultures remained negative. Patient subsequently developed skin lesions which on biopsy showed Kaposi’s sarcoma, and upon endoscopy, noted to have gastrointestinal Kaposi’s sarcoma involvement. Human herpes virus 8 was positive. Bone marrow biopsy revealed hemophagocytic lymphohistiocytosis. Despite having a concern for patient developing immune reconstitution syndrome which may worsen his meningitis, HAART was initiated and patient’s symptoms improved including resolution of fevers and hematological as well as liver abnormalities. Kaposi’s sarcoma improved as well

Acquired Von Willebrand’s Syndrome in Systemic Lupus Erythematosus

Acquired von Willebrand syndrome (AVWS) is an uncommon, underdiagnosed, and heterogeneous disease which is increasingly recognized as a cause of bleeding diatheses. Systemic lupus erythematosus (SLE) is an infrequent cause of AVWS. Herein, we report a case of AVWS diagnosed during the initial presentation of SLE in a previously healthy young man with no family history of bleeding diathesis who presented with worsening epistaxis, gastrointestinal bleeding, and anasarca. He was found to have severe anemia and prolonged activated partial thromboplastin time (aPTT) with severely decreased levels of von Willebrand factor (VWF) measurements in addition to markedly decreased factor VIII levels. Further evaluation revealed nephrotic syndrome and interstitial lung disease due to SLE. He initially received combination therapy with intravenous immunoglobulin (IVIG) and von Willebrand factor/factor VIII concentrates without significant improvement. Treatment with steroids, cyclophosphamide, and rituximab was followed by clinical improvement evidenced by cessation of bleeding. The short follow-up did not allow us to definitely prove the therapeutic effect of immunosuppressive treatment on AVWS in SLE patients. This case adds to the literature supporting the relationship between AVWS and SLE and highlights the importance of combination therapy in the treatment of severe AVWS as well as the role of IVIG, cyclophosphamide, and rituximab in AVWS associated with SLE