ABSTRACT
This case report aims to highlight the importance of keeping catastrophic antiphospholipid syndrome (CAPS) high on the list of differentials in patients with lupus who present with digital ischemia and to understand the workup and treatment of the disease. Catastrophic antiphospholipid syndrome is a life-threatening variant of antiphospholipid syndrome (APS), and it is distinguished on the APS spectrum by its increased intensity and extent of thrombotic outcomes. Less than 1% of patients with APS develop CAPS and the demographic of patients affected are primarily females, 37 ± 14 years old, and have underlying primary APS or systemic lupus erythematosus (SLE). This is the case of a young female with lupus and end-stage renal disease secondary to lupus nephritis who presented to the emergency department for shortness of breath and bilateral leg swelling that eventually progressed to catastrophic antiphospholipid syndrome. She developed pulmonary embolisms, axillary hematoma, and bilateral lower extremity digital gangrene. The treatment course consisted of anticoagulation, steroids, intravenous immunoglobulin (IVIG), above-knee amputation, and eventually rituximab. Diagnosis and treatment of digital ischemia can be complex, especially, in the setting of lupus where the differential diagnosis is broad. A high index of suspicion for CAPS is essential for early diagnosis and treatment.
ABSTRACT
Sarcoidosis is a systemic inflammatory disorder characterized by "noncaseating granulomas." It primarily affects the lungs, but multiple other organs can be involved. Sarcoidosis has been increasingly reported in association with cancer. It can precede, follow or occur at the same time as the diagnosis of cancer. We report a case of sarcoidosis that was diagnosed concomitantly with colon cancer, highlighting the diagnostic dilemma of sarcoidosis vs. cancer metastasis, the relationship between the two, and the value of PET scan in follow-up and monitoring of disease activity.
ABSTRACT
Pyoderma gangrenosum is an uncommon inflammatory disorder characterized by neutrophilic infiltration of the skin. It can present as skin papules or pustules that progress into painful ulcers. 30-40% of the cases are associated with other systemic diseases such as inflammatory bowel diseases, rheumatoid arthritis, and proliferative hematological disorders. Uniquely, this condition has been associated with systemic lupus erythematosus (SLE). The rarity of this disorder poses a diagnostic and therapeutic challenge. We present a case of a 55-year-old female with a history of SLE and chronic right leg ulcer, presented with increased pain from the ulcer associated with a mild flare of her cutaneous lupus; examination revealed circumferential skin ulcer measuring about 25 cm extending around the right leg above the ankle with prominent fibrinous material and surrounding erythema. Blood work showed elevated WBC with neutrophilic predominance. Serology revealed a positive ANA, elevated RNP, smith, and SSA/Ro antibodies with normal anti-CCP level. Skin biopsy was taken, and it showed a diffuse neutrophilic and lymphocytic infiltrate consistent with the diagnosis of pyoderma gangrenosum. The patient was then treated with topical and systemic steroids and sequentially with dapsone, methotrexate, mycophenolate, and cyclosporine for over a two-year period but failed to show any improvement. Therefore, a trial of intravenous immunoglobulin (IVIG) therapy was attempted and produced a dramatic response after two-month infusions characterized by shrinking in the size of the ulcer and resolving pain. We believe that refractory PG poses a therapeutic challenge, and despite a lack of specific guidelines, IVIG can be attempted if initial suppressive treatment fails to show signs of improvement.
ABSTRACT
BACKGROUND Acquired hemophilia A (AHA) is a rare hemorrhagic disorder that is caused by producing autoantibodies against factor VIII. It is usually characterized by severe, spontaneous bleeding, which can be life-threatening. The current standard treatments for bleeding prophylaxis are highly effective but accompanied with some disadvantages such as frequent intravenous infusions, high cost, and risk of thromboembolic complications. Emicizumab is a bispecific antibody with a therapeutic FVIII-mimetic nature. Emicizumab has shown a reduction in annualized bleeding rate in congenital hemophilia patients with and without inhibitors. The pathophysiological concepts and preclinical data suggest that Emicizumab can be effectively used for treating AHA. CASE REPORT We present the case of an 87-year-old woman admitted for symptomatic anemia and large chest wall and pelvic hematomas confirmed by imaging, without history of trauma. Her coagulation studies showed isolated prolonged activated partial thromboplastin time (aPTT), low factor VIII activity level, and high levels of factor VIII inhibitor. She was successfully treated with activated prothrombin complex concentrate (aPCC), which was transitioned to Emicizumab on discharge. No recurrent bleeding episodes or adverse events related to Emicizumab were reported during the 2-month follow-up period. CONCLUSIONS A subcutaneous weekly or biweekly injection of Emicizumab, a recombinant monoclonal antibody, offers several advantages: less frequent infusions, good hemostatic efficacy, possible outpatient therapy, and even more cost-effective than bypassing agents. More clinical studies should be conducted to compare Emicizumab with the current standards of care.
