Secondary amyloidosis can complicate chronic inflammatory autoimmune diseases. However, the clinical findings of primary amyloidosis may mimic those of primary rheumatologic disorders. We present the case of a 53-year-old woman who presented with dystrophic nail changes, dry eyes, bilateral carpal tunnel syndrome, Raynaud's phenomenon, and high titer positive nucleolar pattern antinuclear antibody. She was initially misdiagnosed as having Undifferentiated Connective Tissue Disease (UCTD). On further workup, she was eventually diagnosed with lambda light chain systemic amyloidosis by abdominal fat pad biopsy. Her symptoms completely resolved after autologous stem cell transplantation. With this case, we would like to highlight the similarities in the clinical features between light chain amyloidosis and rheumatological disorders. We would also like to emphasize the importance of the prompt recognition of the clinical features of amyloidosis which are crucial to triggering appropriate diagnostic procedures, since early diagnosis is a key to improving outcomes in this disease with an otherwise poor prognosis.
As the number of cancer survivors grows, so does the number of co-occurring primary malignancies and secondary malignancies. In rare cases, single driver mutations can be responsible for concomitant primary malignancies. By understanding the mechanisms that drive multiple primary malignancies (MPM), clinicians are capable of targeting molecular pathways that drive oncogenesis resulting in the successful treatment of many malignancies while also reducing the side effects of conventional chemotherapy.Herein, we report a case of co-occurring hairy cell leukemia (HCL) and malignant melanoma in a 69-year-old male. This patient tested positive for the BRAF V600E mutation and was initiated on a single agent, vemurafenib. He, unfortunately, succumbed to his illness before completion of his planned therapy course. This case report is intended to highlight the rare co-occurrence of BRAF-positive HCL and melanoma and to encourage driver mutation evaluation when a patient presents with MPM and the possibility of a unifying driver mutation. To the best of our knowledge, this is the first case of a co-occurring BRAF positive melanoma and HCL to be reported in a chemotherapy-naïve patient.
Evans syndrome (ES) is a rare hematologic disorder characterized by the presence of Direct Antiglobulin test (DAT) positive autoimmune hemolytic anemia (AIHA), immune thrombocytopenia (ITP), and/or immune neutropenia. The risk of thrombosis has been well established in retrospective studies for ITP and AIHA; however, the risk of thrombosis in ES has been limited to case reports and individual case series. Whether the risk of thrombosis in ITP and AIHA is additive has not been well established, but preliminary observation suggests the rate of thrombosis is higher than the rate observed in ITP or AIHA individually. Furthermore, ES appears to be an underappreciated diagnosis. Anemia in the presence of ITP is often considered to be secondary to acute blood loss and a proper workup for hemolysis is often missed. Appropriate risk stratification of these patients is hindered by this lack of workup and many patients are unfortunately not treated appropriately and/or not offered appropriate prophylaxis for their level of thrombotic risk. The purpose of this case report is to not only increase the level of awareness among clinicians to initiate an appropriate diagnostic workup in patients presenting with anemia in the setting of ITP, but also to a heightened thrombotic risk warranting an appropriate thromboprophylaxis. This case also adds to the body of evidence that a "second-hit" phenomenon is often a precipitating cause for a thrombotic event.
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