Case Reports in Hematology最新文献

Intravascular large B-cell lymphoma (IVLCBL) is a rare form of non-Hodgkin's lymphoma and is characterized by the growth of large B-cells within blood vessels and bone marrow sinusoids. A 55-year-old man presented with a multiple endocrine failure which progressed to a pancytopenia. A bone marrow biopsy revealed a diffuse infiltration by large B-cells in the sinusoids consistent with intravascular lymphoma. After 6 cycles of R-CHOP, complete remission was achieved. Six months later, the patient relapsed presenting with a thrombotic microangiopathy which progressed to multiple organ failure and death.

Intravascular large B-cell lymphoma (IVLBCL) has a high mortality rate, partly due to its heterogeneous presentation and rarity. We present a case of a 73-year-old woman who came into the emergency room in need of fluid resuscitation, interpreted as septic shock. However, broad-spectrum antibiotics gave no resolution, and no causative agent was found. Further physical examination showed proximal muscle weakness, Raynaud's phenomenon, and calcinosis cutis. During 3 weeks of admission, vasopressor support was required continuously due to a capillary leak syndrome. The patient passed away. The underlying malignancy was only revealed at autopsy. To the best of our knowledge, this is the first case of IVLBCL with hypovolemic shock due to systemic capillary leak syndrome in combination with a wide range of immunological phenomena.

In this case report, we present a patient with severe thrombocytopenia induced by adalimumab after 4 weeks of treatment for rheumatoid arthritis. This case adds to present literature regarding antitumor necrosis factor-alpha (TNF-α)-induced thrombocytopenia and explores the use of thrombopoietin receptor agonist medications in refractory drug-induced immune thrombocytopenia (DITP). A 57-year-old female with a history of rheumatoid arthritis presented to the emergency department for progressive petechial rash 4 days after her third dose of adalimumab. It was determined that the patient had immune thrombocytopenia caused by adalimumab and was initially treated with steroids and intravenous immunoglobulin (IVIG). Platelets remained undetectable; hence, romiplostim was initiated, after which platelets trended up to normal levels a week later. Anti-TNF-α agents carry the risk of severe side effects, including thrombocytopenia, which should be monitored closely in the first few months of therapy. The treatment of DITP is challenging, especially when the causative agent has a prolonged half-life.

Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin change (POEMS) syndrome is a multisystem disorder, and it is often misdiagnosed with other entities including chronic inflammatory demyelinating polyneuropathy (CIDP). Here, we present a case of a patient with presumed metastatic prostate cancer due to prostate-specific membrane antigen (PSMA) avid lesions and a history of neuropathy not responding to conventional treatment for CIDP. His physical exam findings, in addition to an appropriate workup, led to a diagnosis of POEMS syndrome. This case highlights the importance of a high index of clinical suspicion, even when imaging suggests otherwise.

Chronic myelomonocytic leukemia (CMML) is a myeloproliferative disease characterized by monocyte-predominant hematopoiesis. It is sometimes complicated with cutaneous involvement known as leukemic cutis, which is associated with a poor prognosis. We report a patient with CMML who developed fever with knee joint swelling and pain. The patient was considered to have leukemic synovitis, and treatment with azacitidine improved her symptoms. Our case suggested that leukemic synovitis might indicate the indication for treatment, and arthrocentesis should be performed in patients with leukemia who present with joint swelling.

Factor XIII (FXIII) deficiency is a rare coagulopathy with an estimated prevalence of approximately 1 in 1 to 2 million, affecting males and females with equal frequency. FXIII plays a critical role in hemostasis by stabilizing fibrin clots through covalent cross-linking of fibrin monomers, thereby conferring mechanical resistance and durability to the clot structure. Clinically, FXIII deficiency presents with a spectrum of hemorrhagic manifestations including bleeding from the umbilical cord, intracranial hemorrhage, recurrent miscarriages, menorrhagia, epistaxis, gingival bleeding, and poor wound healing. Despite significant bleeding symptoms, routine primary hemostasis screening tests are typically within normal limits since FXIII acts downstream of clot formation. The clot solubility in 5-molar urea is widely used, especially in resource-limited settings. An 11-year-old female patient presented with symptoms including vomiting, lethargy, severe headache, and a subgaleal hematoma. Neurosurgical intervention confirmed intracranial hemorrhage. Her medical history was notable for neonatal umbilical cord bleeding, hematomas, and postdental extraction bleeding. Despite these clinical features, multiple clot solubility tests yielded normal results. Subsequent quantitative assessment of FXIII by chromogenic assay performed on the CS-5100 system revealed a markedly decreased FXIII activity level of 12.4%. This discrepancy highlights the limited insensitivity of the clot solubility test in detecting FXIII deficiency. Therefore, accurate diagnosis of FXIII deficiency necessitates a combined diagnostic approach incorporating both clot solubility testing and specific quantitative FXIII activity measurement. The clot stability test, despite its limitations in detecting FXIII deficiency, is frequently employed in developing countries for screening reduced FXIII levels due to its simplicity. However, the current findings indicate that in patients suspected of FXIII deficiency, accurate diagnosis necessitates the performance of both a clot stability test (5 M urea test) and a specific FXIII activity assay. A comprehensive medical and family history is fundamental to the clinical and laboratory approach to patients presenting with bleeding tendencies. Notably, a subset of patients exhibiting bleeding symptoms may exhibit normal findings on initial first-line hemostasis screening assays.

T-cell prolymphocytic leukaemia (T-PLL) is an aggressive and rare post-thymic T cell malignancy, highly refractory to conventional cytotoxic chemotherapeutics. While extranodal involvement is common, solid organ invasion is rare. We present the case of a 76-year-old man who developed acute renal failure secondary to T-PLL renal infiltration. On day four of his admission, prior to commencing alemtuzumab, his creatinine rose from 133 μmol/L to 390 μmol/L, with anuria. Renal biopsy demonstrated an infiltrate of monomorphic, mononuclear cells positive for a STAT5B mutation, consistent with T-PLL infiltration. He required haemodialysis, but was treated with pulsed methylprednisolone and alemtuzumab, with excellent renal recovery, although remission was not achieved. This case demonstrates that renal leukaemic infiltration must be considered in T-PLL patients with rapidly progressive renal failure, and that solid organ invasion should not contraindicate timely commencement of T-PLL-directed therapy with alemtuzumab.

Waldenström macroglobulinemia (WM) and essential thrombocythemia (ET) are distinct hematologic malignancies that have only been reported to co-occur in one previous patient. We present a 64-year-old man with a significant family history for WM who was found to have both ET and WM. He had symptomatic ET, diagnosed by elevated platelets and a positive JAK2 V617F mutation, and asymptomatic WM was found on serum electrophoresis done for screening due to family history. Genomic evaluation of the myeloid and lymphoid cells suggested independent neoplastic transformation. This is the second reported case of a patient with both WM and ET. There was no evidence for a shared mechanism in these dual malignancies.

Sickle cell hepatopathy (SCH) is an umbrella term relating to liver disease in sickle cell disease (SCD). This term ranges from common etiologies such as cholelithiasis to disease-specific causes such as sickle cell intrahepatic cholestasis (SCIC), a rare but significant complication of SCD capable of progressing to liver failure and consideration of transplantation. We report the case of a 24-year-old male with SCD who presented with jaundice, encephalopathy, uncontrollable epistaxis, and pseudohematemesis and was found to have hyperbilirubinemia, coagulopathy, portal hypertension, and acute kidney injury (AKI). This presentation was concerning for SCIC. Initial management included transfusions and a trial of apheresis. Liver biopsy revealed sinusoidal red cell sickling, fibrosis, and ductopenia, consistent with findings of SCIC. Due to ongoing complications, recurrent admissions, and symptomatic coagulopathy, the patient underwent liver transplantation which was complicated by perihepatic hematoma and stroke, necessitating extensive rehabilitation. This case emphasizes the importance of early diagnostic workup and prompt, multidisciplinary management of SCIC to mitigate risks of liver failure and need for transplant.

Background: Factor X (FX) deficiency is a rare autosomal recessive inherited bleeding disorder, with an estimated prevalence of approximately 1 in 1,000,000 individuals. According to the most recent data published by the World Federation of Hemophilia, no cases of FX deficiency have been reported in Cambodia to date. Case Report: A 14-year- and 7-month-old Cambodian boy presented with recurrent gum bleeding. His medical history was notable for multiple hematomas, joint ankylosis, and blue sclera. He was born to second-degree consanguineous parents, with no known family history of bleeding disorders. Laboratory evaluation revealed prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT) and severely reduced FX activity (< 1%), consistent with a diagnosis of severe congenital FX deficiency. Bleeding was successfully managed with fresh frozen plasma, initially administered at 15 mL/kg, followed by maintenance doses of 5 mL/kg twice daily. Conclusion: FX deficiency, though rare, should be considered in the differential diagnosis of pediatric patients presenting with recurrent gingival or mucocutaneous bleeding in conjunction with prolonged PT and APTT. This consideration is particularly important in resource-limited settings such as Cambodia, especially in children born to consanguineous parents and after more common coagulopathies have been excluded. In low-resource settings, where FX concentrates are often unavailable or unaffordable, fresh frozen plasma remains the primary treatment option.