Case Reports in Hematology最新文献

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.

Rheumatoid arthritis (RA) is a chronic, systemic, and autoimmune disease characterized by inflammation and pain in the joints. While RA and TNF-alpha inhibitors have historically been associated with an increased risk of lymphoma, chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) is infrequently seen. CD23 negative CLL is rare. Extranodal manifestations of CLL/SLL are uncommon. While cutaneous involvement is among the more common extranodal manifestations, leukemia cutis is rare. Furthermore, subcutaneous leukemia cutis as the initial manifestation CLL/SLL is exceedingly uncommon. We describe a patient with longstanding RA on chronic TNF-alpha inhibition who presented with an isolated subcutaneous mass. Excisional biopsy demonstrated sheets of small, uniform, and mature lymphocytes with flow cytometric analysis noting a monoclonal B-cell population negative for CD23 expression but positive for CD5, CD19, CD20, CD38, kappa light chain, and CD200 expression. Further immunostaining was negative for cyclin-D1 and SOX11 and positive for CD43 and LEF1, overall consistent with CLL/SLL-induced subcutaneous leukemia cutis. While treatments for CLL/SLL-induced leukemia cutis vary, in this case, consolidative local radiation led to resolution of the remaining cutaneous lesion. Caution is advised when considering the use of TNF-alpha inhibitors in patients with a history of lymphoma.

Dysfibrinogenemia is a rare qualitative fibrinogen disorder that can present with bleeding, thrombosis, or both. We report a case of a young woman with first-trimester pregnancy loss and severe hemorrhage, whose coagulation tests reported "no end point detected" on PT, PTT, and Clauss fibrinogen assays. This pattern should prompt consideration of profound hypofibrinogenemia or qualitative fibrinogen defects. Fibrinogen replacement normalized PT and PTT and yielded measurable fibrinogen levels, enabling definitive diagnosis. Discordant activity and antigen levels, along with a pathogenic FGB variant, confirmed dysfibrinogenemia. This case underscores the importance of considering fibrinogen disorders in uninterpretable coagulation profiles and initiating early replacement.

Objective: A case report of a pregnant patient with idiopathic thrombocytopenic purpura refractory to clinical treatment, who underwent childbirth in the context of a difficult-to-control disease. Method: Data were collected through medical record survey and literature review. Final Considerations: The case reported regards a complex clinical condition involving management of maternal-fetal well-being in the context of severe hematological disease, regarding ideal therapy options and best moment for delivery indication, minimizing risk of prematurity and adverse events from underlying pathology.

Histiocytic sarcoma is a very rare aggressive neoplasm of mature histiocytes which may present as a primary malignancy or transforming from a primary B-cell lymphoma that includes chronic lymphocytic leukemia/small lymphocytic lymphoma, follicular lymphoma, and extra nodal marginal zone lymphoma. A 69-year-old female presented with lymphadenopathy, and CT scan of chest, abdomen, and pelvis revealed extensive lymphadenopathy. Left axillary lymph node excision was performed. Histologic sections showed enlarged lymph nodes with architectural effacement by nodular and diffuse infiltrate comprising a mixture of small lymphocytes, histiocytes, occasional plasma cells, and scattered large atypical lymphocytes with irregular nuclear contours, vesicular chromatin, and prominent nucleoli. In addition, there were a few nodules of atypical histolytic cells including epithelioid and spindled forms and scattered large multinucleate forms. Immunohistochemical (IHC) stains showed that the large atypical B-cells were positive with variable intensity for CD20, PAX5, BCL6, BOB1 (weak), OCT2, MUM1, PU.1, CD45 (subset), CD19 (weak), CD79A (weak), and CD30 (subset, weak). They were negative for CD3, BCL2, CD15, ALK, CD10, IgD, HHV8, CAM5.2, EBER, GMS, AFB, SOX10, MART1, and HMB45. T-lymphocytes positive for CD3 showed rosette formation around scattered negative atypical large B-cells. CD21 and CD23 highlighted mild expansion of the follicular dendritic cell meshwork in a few areas of nodular infiltration by atypical cells. The nodules of atypical histiocytes were positive for CD68, CD163, BCL6, PU.1 (partial), cyclinD1, and S100 (partial) while negative for CD20, CD3, ALK, CD1A, HHV8, langerin, CAM5.2, HMB45, and MART1. The case was diagnosed as "Histiocytic sarcoma arising in a background of nodular lymphocyte predominant Hodgkin lymphoma." Histiocytic sarcoma is a rare hematopoietic neoplasm, with limited cases of secondary histiocytic sarcoma transforming from a B-cell lymphoma reported in the English literature. Some of these case reports show the same clonal origin of histiocytic sarcoma and B-cell lymphoma. The diagnosis of the transformation is made based on the morphological, immunophenotypic, and genotypic features.

Mantle cell lymphoma (MCL) is an aggressive mature B-cell non-Hodgkin lymphoma. Patients often present with lymphadenopathy, early satiety, and B-symptoms. Presentation with hyperleukocytosis is rare. The small cell, non-nodal variant of MCL tends to be less aggressive, have lower mitotic rates, and mimics morphology of chronic lymphocytic leukemia (CLL). We present a 79-year-old woman admitted to hospital with generalized weakness, gait instability, and dyspnea; she was found to have a white count of 550 × 10⁹/L, hemoglobin of 30 g/L, and platelets of 49 × 10⁹/L. She had biochemical evidence of poor tissue perfusion. Peripheral blood smear demonstrated lymphocytosis with smudge cells. After aggressive red blood cell transfusion, she was managed as leukostasis with concurrent tumour lysis syndrome (TLS). She was administered intravenous fluids, rasburicase, allopurinol, and escalating doses of prednisone for lymphoreduction. Her mentation and biochemical evidence of shock improved. Although we initially had high suspicion for CLL, her flow cytometry raised concerns for MCL. Cytogenetics confirmed t (11; 14) rearrangement. This case is the first to discuss a severe, aggressive presentation of a small variant, leukemic non-nodal MCL. We also review the role of steroids in leukostasis and concurrent warm autoimmune hemolytic anemia, in a centre where leukapheresis is unavailable.

Introduction: May-Hegglin anomaly (MHA) is a rare autosomal dominant genetic disorder caused by mutations in the MYH9 gene, leading to the presence of Döhle-like inclusions in neutrophils, macrothrombocytes, and thrombocytopenia. This report presents a unique case of a 33-year-old pregnant woman diagnosed with MHA and discusses the diagnostic challenges and management strategies. Case Presentation: A 33-year-old pregnant woman, 17 weeks into her pregnancy, presented with a history of persistent thrombocytopenia. She had previously been diagnosed with immune thrombocytopenia (ITP) and treated with steroids, intravenous immunoglobulin (IVIG), and thrombopoietin receptor agonists (TPO-RA). Her platelet counts had been between 35,000 and 50,000/μL. Upon referral to the hematology clinic, her platelet count was critically low at 15,000/μL, but the mean platelet volume (MPV) remained within normal limits. Despite her low platelet count, her coagulation profile was normal, and physical examination showed no pathological findings. Diagnostic Assessment: The patient's blood smear revealed giant platelets and Döhle-like inclusions in the granulocytes. Genetic testing confirmed a heterozygous mutation in the MYH9 gene, leading to the diagnosis of MHA. Therapeutic Intervention: Due to the risks associated with thrombocytopenia in pregnancy, her prenatal care included routine platelet monitoring and a normal bleeding time assessment. The patient underwent a cesarean delivery under general anesthesia, which resulted in the birth of a healthy baby boy. Conclusion: The case highlights the importance of accurate diagnosis and careful monitoring in managing pregnancy in patients with MHA. A multidisciplinary approach involving obstetricians and hematologists is crucial for optimizing maternal and neonatal outcomes.

Primary central nervous system lymphoma (PCNSL) is a rare brain cancer that sometimes presented as rapidly progressive dementia. Diagnosing PCNSL presenting with rapidly progressive neurocognitive symptoms can be challenging, especially when the patient was previously treated with immunosuppressants for suspected autoimmune processes. We present a case where PCNLS was eventually and successfully treated 18 months after neurological symptoms started.

Acquired factor V deficiency (AFVD) is a rare coagulation abnormality associated with infectious diseases, antibiotics, surgery, autoimmune diseases, and malignancy, which causality is difficult to prove. Here, we report a case of a 90-year-old woman who developed melena following antibiotic treatment for pneumonia. She had been on cefepime for bacterial pneumonia for 2 months to 2 weeks prior to her arrival in the emergency room. Upon presentation, she had severe anemia (Hb: 6.7 g/dL) and prolonged PT (74.3 s) and activated partial thromboplastin time (APTT) (161.9 s). Coagulation studies revealed incomplete correction of the APTT in a 1:1 mixing study with normal pooled plasma, factor V activity of 0%, and a factor V inhibitor titer of 13 Bethesda units, confirming the diagnosis of AFVD. Since the antibiotics were not recognized as the cause, the coagulation abnormality worsened after their readministration. The melena subsequently improved with platelet transfusion and administration of tranexamic acid, while prednisolone-resistant coagulation abnormalities improved with cyclosporine A (CsA) treatment. This case shows the importance of avoiding suspected drugs and the effectiveness of CsA as a second-line treatment of AFVD.

Background: Hemoglobinopathies are genetic disorders of hemoglobin, with over 700 variants. Common types include beta-thalassemia, Hb S, Hb E, Hb D, and Hb C, and their prevalence is increasing, especially in developing regions of sub-Saharan Africa and Asia. Pakistan, located in the "thalassemia belt," has a high rate of these disorders, with beta-thalassemia being the most common. Genetic combinations, including compound heterozygosity, can lead to unpredictable and severe clinical outcomes. Understanding such rare presentations can aid in more accurate diagnosis, better management strategies, and a deeper insight into the genetic diversity of hemoglobinopathies. It also emphasizes the importance of genetic screening in populations with high hemoglobinopathy prevalence, such as Pakistan, to improve patient outcomes. Case Presentation: A one-year-old girl from consanguineous parents in Multan presented with fatigue, feeding difficulties, and severe growth retardation. She had a history of severe anemia requiring a transfusion at 6 months. Examination revealed pallor and mild hepatosplenomegaly. Hemoglobin analysis showed severe anemia (Hb 5.3 g/dL) and a dimorphic blood picture, with electrophoresis indicating compound heterozygosity for Hb D and Hb E, predominated by Hb D. Her father was a compound heterozygote for Hb E and beta-thalassemia. However, the mother was heterozygous for Hb D. Genetic profiling was not completed due to resource limitations, but the family was counseled on consanguinity risks. Conclusion: Given the rising prevalence of uncommon severe hemoglobinopathies in Pakistan and existing resource limitations, targeted screening in high-risk districts and enhanced patient counseling are essential to mitigate the disease burden and improve diagnostic and management strategies.