Case Rep Hematol
· 2023 · PMID 37424536
·
Full text
Factor XII (FXII) deficiency is a rare coagulopathy that typically goes undiagnosed due to the lack of abnormal bleeding or thrombosis. However, the accompanying prolonged activated partial thromboplastin time (aPTT) can...Factor XII (FXII) deficiency is a rare coagulopathy that typically goes undiagnosed due to the lack of abnormal bleeding or thrombosis. However, the accompanying prolonged activated partial thromboplastin time (aPTT) can create difficulties with maintaining therapeutic anticoagulation in the setting of acute coronary syndrome (ACS). Here, we present the case of a 52-year-old man presenting with chest pain and diagnosed with an NSTEMI but also found with a prolonged baseline aPTT ultimately secondary to FXII deficiency. Here, we discuss the diagnostic work-up of an isolated prolonged aPTT to identify possible etiologies, such as FXII deficiency, and ultimately inform ACS management.
Nakahara W, Ogawa T, Matsunaga H
… +8 more, Iwasa Y, Horita M, Ikeda M, Asako M, Iio S, Iwama Y, Oka K, Ueda S
Case Rep Hematol
· 2023 · PMID 37408875
·
Full text
IgE plasma cell neoplasm is the rarest subtype of plasma cell neoplasms and is known for its poor prognosis and high incidence of t(11;14). However, t(11;14) has been classified as a standard-risk rather than high-risk c...IgE plasma cell neoplasm is the rarest subtype of plasma cell neoplasms and is known for its poor prognosis and high incidence of t(11;14). However, t(11;14) has been classified as a standard-risk rather than high-risk cytogenetic abnormality in multiple myeloma. We have been unable to explain the discrepancy that the hallmark of IgE plasma cell neoplasm with a poor prognosis is a standard-risk cytogenetic abnormality. Here, we report a case of IgE primary plasma cell leukemia with extramedullary lesions of the liver, stomach, and lymph nodes. Plasma cell infiltration was pathologically confirmed in each organ. Cytogenetic analysis of plasma cells revealed t(11;14) and amplification of 1q21. Chemotherapy, with immunomodulatory imide drugs, proteasome inhibitors, and CD38 antibodies, was unsuccessful. In IgE plasma cell neoplasm, coexistence of other cytogenetic abnormalities with t(11;14) may be important. Investigating the presence of cytogenetic abnormalities coexisting with t(11;14) is not only useful for evaluating prognosis but also important for understanding the pathogenesis of the disease. Recently, venetoclax, an oral BCL2 inhibitor, has demonstrated promising efficacy in plasma cell neoplasm patients harboring t(11;14). Development of an effective venetoclax-based regimen for treating aggressive IgE plasma cell neoplasm with t(11;14) is expected.
Mort JF, Tran DT, Dougherty SC
… +3 more, Zielinski R, Williams MD, Davidson KM
Case Rep Hematol
· 2023 · PMID 37388486
·
Full text
Immune thrombocytopenia (ITP) is an acquired thrombocytopenia resulting from immune-mediated platelet destruction via antiplatelet antibodies and T cells. Medical management of ITP includes corticosteroids and multiple o...Immune thrombocytopenia (ITP) is an acquired thrombocytopenia resulting from immune-mediated platelet destruction via antiplatelet antibodies and T cells. Medical management of ITP includes corticosteroids and multiple other adjunct therapies, with splenectomy generally being reserved for severe, refractory cases. In this clinical case report, we describe the evaluation of a 35-year-old male with a history of prior traumatic splenic injury who presented to the emergency department endorsing easy bruising and a petechial rash, ultimately found to have severe thrombocytopenia. The patient was diagnosed with primary ITP that proved to be refractory to a number of first- and second-line medical therapies. His course was complicated by the presence of abdominal splenosis discovered at the time of planned splenectomy and intra-abdominal hemorrhage requiring splenic artery embolization thereafter. To our knowledge, this is one of few published cases of ITP complicated by abdominal splenosis, highlighting the need to consider splenosis and the presence of accessory splenic tissue in cases of refractory ITP.
Innao V, Calogero RD, Lo Presti F
… +1 more, Consoli U
Case Rep Hematol
· 2023 · PMID 37323813
·
Full text
Immune thrombocytopenia (ITP) is immune-mediated platelet loss due to increased destruction and insufficient production. Treatment guidelines provide for first-line steroid-based therapies followed by thrombopoietin rece...Immune thrombocytopenia (ITP) is immune-mediated platelet loss due to increased destruction and insufficient production. Treatment guidelines provide for first-line steroid-based therapies followed by thrombopoietin receptor agonists (TPO-RAs) and fostamatinib for chronic ITP. Fostamatinib demonstrated efficacy in phase 3 FIT trials (FIT1 and FIT2) mainly in second-line therapy resulting in the maintenance of stable platelet values. Here, we describe two patients with extremely heterogeneous characteristics that responded to fostamatinib after two and nine previous treatments. Responses were complete with stable platelet counts ≥50,000/L and without any grade ≥3 adverse reactions. As in the FIT clinical trials, we confirm better responses to fostamatinib when used in the second or third line. However, its use should not be excluded in patients with longer and more complicated drug histories. Given the different mechanism of action of fostamatinib compared to TPO-RAs, it would be interesting to identify predictive factors of responsiveness applicable to all patients.
Case Rep Hematol
· 2023 · PMID 37303483
·
Full text
Plasmacytoma is a rare cancer that originates from a single plasma cell and is characterized by the abnormal proliferation of monoclonal plasma cells. It is typically localized in a single area of the body, most commonly...Plasmacytoma is a rare cancer that originates from a single plasma cell and is characterized by the abnormal proliferation of monoclonal plasma cells. It is typically localized in a single area of the body, most commonly in the bone or soft tissue. Solitary plasmacytoma can be further classified as either solitary plasmacytoma of bone (SPB) or solitary extramedullary plasmacytoma (SEP or EMP). Diagnosis may be delayed in symptomatically silent plasmacytomas, but early diagnosis and prompt treatment are crucial for the management of this disease. The mean age for patients with plasmacytoma varies depending on the specific type of plasmacytoma, but generally, it is more common in older adults. Soft tissue plasmacytomas are uncommon, and plasmacytomas manifesting within the breast are extremely rare, especially when they are not a manifestation of multiple myeloma (MM). This report presents a case of SEP of the breast in a 79-year-old female patient. This rare disease needs to be studied further in terms of long-term survival and disease progression to MM. By raising awareness and understanding of plasmacytoma, we aim to improve outcomes and quality of life for patients affected by this disease.
Vargas JC, Cardozo C, Stanzione R
… +5 more, Fiore L, D'Almeida Costa F, Fonseca Abreu R, Hamerschlak N, Perini G
Case Rep Hematol
· 2023 · PMID 37303482
·
Full text
Erdheim-Chester disease (ECD), a rare form of non-Langerhans histiocytosis, is a multisystem disorder. The case reported here refers to a 49-year-old man presenting at the emergency room with respiratory symptoms. While...Erdheim-Chester disease (ECD), a rare form of non-Langerhans histiocytosis, is a multisystem disorder. The case reported here refers to a 49-year-old man presenting at the emergency room with respiratory symptoms. While undergoing diagnostic tests for COVID-19 infection, tomography revealed asymptomatic bilateral perirenal tumors, while renal function remained unaltered. ECD was suggested as an incidental diagnosis and confirmed by core needle biopsy. This report provides a brief description of the clinical, laboratory, and imaging findings in this case of ECD. This diagnosis, albeit rare, should be taken into consideration in the context of incidental findings of abdominal tumors to ensure that treatment, when required, is instituted early.
Shankar VH, Adithya-Sateesh B, Gousy N
… +4 more, Ayele G, Petursson F, Atalay R, Michael M
Case Rep Hematol
· 2023 · PMID 37197195
·
Full text
Pyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. It is the most common defect of...Pyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. It is the most common defect of the glycolytic pathway associated with congenital anemia. Patients usually present with signs of chronic hemolytic anemia such as hyperbilirubinemia, splenomegaly, reticulocytosis, and gallstones; the presentation can vary by age. Diagnosis is usually made by demonstration of decreased PK enzymatic activity in a spectrophotometric assay and on the detection of mutations in the PK-LR gene. Management strategies vary from full splenectomies to hematopoietic stem cell transplants with gene therapies with transfusions and administration of PK-activators coming in between. Thromboembolic complications do occur in patients with splenectomy, but there are not much data regarding this for patients with PKD. We present a case of a patient with PKD who demonstrated priapism to be a thromboembolic complication. This differs greatly as priapism has been frequently reported in patients with other chronic hemoglobinopathies such as sickle cell disease, thalassemia, and G6PD with and without splenectomy. While it is still unclear how splenectomies can result in thrombotic events in PKD, there does appear to be a correlation between splenectomies with resultant thrombocytosis with increased platelet adhesion.
Langabeer SE, Macleod S, Bhreathnach Ú
… +1 more, Fadalla K
Case Rep Hematol
· 2023 · PMID 37123466
·
Full text
Acquired resistance to tyrosine kinase inhibitors (TKIs) remains a therapeutic challenge in the treatment of chronic myeloid leukemia (CML). The most studied reason for TKI resistance is the acquisition of mutations with...Acquired resistance to tyrosine kinase inhibitors (TKIs) remains a therapeutic challenge in the treatment of chronic myeloid leukemia (CML). The most studied reason for TKI resistance is the acquisition of mutations within the tyrosine kinase domain (KDM) and of which the majority of which occur at seven codons within this region. A case of CML is described in which presence of a rare D363G KDM resulted in a suboptimal response to frontline imatinib. Switching to dasatinib resulted in achieving a sustained major molecular response that was maintained after a subsequent switch to bosutinib due to the side effects. Reporting of such cases is important for the future management of any CML patients with this rare mutation.
Case Rep Hematol
· 2023 · PMID 36950529
·
Full text
The coronavirus disease 2019 (COVID-19) pandemic has affected millions of people around the world. Vaccination against COVID-19 has been approved for the following three vaccines in the United States: Pfizer-BioNTech, Mo...The coronavirus disease 2019 (COVID-19) pandemic has affected millions of people around the world. Vaccination against COVID-19 has been approved for the following three vaccines in the United States: Pfizer-BioNTech, Moderna, and Janssen. Hematological complications of vaccination have been reported in the literature but remain as a rare phenomenon. We present the case of a patient who developed severe thrombocytopenia within twenty-four hours following the Pfizer-BioNTech vaccination. Commonly encountered differentials including heparin-induced thrombocytopenia and common viral etiologies were ruled out, and other causes such as drug reactions deemed unlikely as the etiology of this presentation after a broad workup. Nucleocapsid antibodies against COVID-19 were found to be positive which indicated that vaccination was at least the second encounter with this virus for our patient, which has been reported previously as the cause of immune thrombocytopenia (ITP), and this might be the culprit for sudden onset. He responded to the first-line ITP treatment with corticosteroids and intravenous immunoglobulin (IVIG) as evidenced by the fast recovery of platelet count and lack of recurrence of thrombocytopenia.
Austestad J, Madland TM, Sandnes M
… +3 more, Haslerud TM, Benneche A, Reikvam H
Case Rep Hematol
· 2023 · PMID 36879894
·
Full text
VEXAS syndrome stands for vacuoles, E1 enzyme, -linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the . There is an associa...VEXAS syndrome stands for vacuoles, E1 enzyme, -linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the . There is an association between VEXAS and hematological conditions such as myelodysplastic syndrome (MDS), monoclonal gammopathies of uncertain conditions (MGUS), multiple myeloma (MM), and monoclonal B-cell lymphoproliferative conditions. There are not many descriptions of patients having VEXAS in combination with myeloproliferative neoplasm (MPN). With this article, we want to present a case history of a man in his sixties with a V617F mutated essential thrombocythemia (ET) developing VEXAS syndrome. The inflammatory symptoms occurred three and a half years after the ET diagnosis. He started to experience symptoms of autoinflammation and an overall worsening of his health, and blood work showed high inflammatory markers, leading to repeated hospitalizations. His major complaint was stiffness and pain, and high dosages of prednisolone were necessary to obtain pain relief. He subsequently developed anemia and significantly variable levels of thrombocytes, which previously were at a steady level. To evaluate his ET, we made a bone marrow smear demonstrating vacuolated myeloid and erythroid cells. Having VEXAS syndrome in mind, genetic testing identifying the gene mutation was performed, thus confirming our suspicion. The work-up with myeloid panel on his bone marrow identified genetic mutation in the too. After developing VEXAS syndrome, he experienced thromboembolic events with both cerebral infarction and pulmonary embolism. Thromboembolic events are also common in mutated patients, but in his case, they presented first after VEXAS had developed. Throughout the course of his condition, several attempts with prednisolone tapering and steroid sparing drugs were tried. He could not get pain relief unless the combination of medications included a relatively high dose of prednisolone. Currently, the patient uses prednisolone, anagrelide, and ruxolitinib, with partial remission and fewer hospitalizations and more stabilized hemoglobin and thrombocytes.
Ikeda M, Nakahara W, Asako M
… +10 more, Umeki Y, Matsuoka Y, Terakawa T, Matsunaga H, Iwasa Y, Saito R, Iwama Y, Matsui T, Oka K, Ueda S
Case Rep Hematol
· 2023 · PMID 36879893
·
Full text
Mixed phenotype acute leukemia (MPAL) is characterized by leukemic blasts that express markers of multiple lineages. Compared with acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), MPAL is considered t...Mixed phenotype acute leukemia (MPAL) is characterized by leukemic blasts that express markers of multiple lineages. Compared with acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), MPAL is considered to have a poor treatment outcome. We report a case of MPAL T/myeloid not otherwise specified that was initially presented as multilineage lymphoblastic lymphoma and subsequently developed into leukemic MPAL. An acute lymphoblastic leukemia-based treatment regimen was ineffective, but azacitidine and venetoclax therapy resulted in hematological complete remission. Our case suggests that multilineage lymphoblastic lymphoma should be considered to be the same disease as MPAL, albeit with different clinical presentations. Optimal treatment for MPAL has not been established yet, but azacitidine and venetoclax therapy may be a potential approach.
Komisarof J, Forman J, Goldman B
… +3 more, Syposs C, Passero F, Garbade E
Case Rep Hematol
· 2023 · PMID 36852298
·
Full text
Plasma cell dyscrasias are a subset of hematological malignancies involving the production of monoclonal immunoglobulins. This spectrum of disorders includes asymptomatic conditions such as monoclonal gammopathy of unkno...Plasma cell dyscrasias are a subset of hematological malignancies involving the production of monoclonal immunoglobulins. This spectrum of disorders includes asymptomatic conditions such as monoclonal gammopathy of unknown significance as well as extremely aggressive malignancies such as plasma cell leukemia. Monoclonal gammopathies are occasionally associated with renal failure, which can occur via many pathophysiological processes. The most common of these is light chain cast nephropathy, but many rare renal complications exist, including thrombotic microangiopathy (TMA) and focal segmental glomerulosclerosis (FSGS). Here, we report a patient with new renal failure with features of TMA and FSGS on biopsy and found to be secondary to plasma cell leukemia.
Hammoud K, Fulmer R, Hamner M
… +1 more, El Atrouni W
Case Rep Hematol
· 2023 · PMID 36846547
·
Full text
BACKGROUND: Human monocytic ehrlichiosis (HME) is a potentially life-threatening tick-borne illness. HME-associated hemophagocytic lymphohistiocytosis (HLH) is a rare entity with a paucity of published literature regardi...BACKGROUND: Human monocytic ehrlichiosis (HME) is a potentially life-threatening tick-borne illness. HME-associated hemophagocytic lymphohistiocytosis (HLH) is a rare entity with a paucity of published literature regarding treatment and outcome. We present the clinical features, treatment, and outcomes of 4 patients at our institutions with HME-associated HLH. This review also summarizes the current literature regarding the presentation, treatment, and outcome of this infection-related HLH. METHODS: We searched the PubMed database for case reports and case series. All cases were diagnosed according to the HLH-04 criteria. RESULTS: Four cases of HME-associated HLH were included from our institutions. The literature review yielded 30 additional cases. About 41% of the cases were in the pediatric population; 59% were female; and all patients had fever, cytopenia, and elevated ferritin. Most patients were immunocompetent; all but one patient with available data were treated with doxycycline, and eight of the patients with available data received the HLH-94 treatment protocol. The mortality rate was 17.6%. CONCLUSIONS: HME-associated HLH is a rare but serious syndrome with significant mortality. Early treatment with doxycycline is critical, but the role of immunosuppressive therapy is individualized.
Gandhi J, Lee MH, Adams L
… +3 more, Allen TS, Li J, Edwards CV
Case Rep Hematol
· 2023 · PMID 36793393
·
Full text
BACKGROUND: Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare, primary immunodeficiency syndrome characterized by warts, hypogammaglobulinemia, immunodeficiency, and characteristic bon...BACKGROUND: Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare, primary immunodeficiency syndrome characterized by warts, hypogammaglobulinemia, immunodeficiency, and characteristic bone marrow features of myelokathexis. The pathophysiology of WHIM syndrome is due to an autosomal dominant gain of function mutation in the CXCR4 chemokine receptor resulting in increased activity that impairs neutrophil migration from the bone marrow into the peripheral blood. This results in bone marrow distinctively crowded with mature neutrophils whose balance is shifted towards cellular senescence developing these characteristic, apoptotic nuclei termed myelokathexis. Despite the resultant severe neutropenia, the clinical syndrome is often mild and accompanied by a variety of associated abnormalities that we are just beginning to understand. . Diagnosis of WHIM syndrome is incredibly difficult due to phenotypic heterogeneity. To date, there are only about 105 documented cases in the scientific literature. Here, we describe the first case of WHIM syndrome documented in a patient of African ancestry. The patient in question was diagnosed at the age of 29 after a comprehensive work-up for incidental neutropenia discovered at a primary care appointment at our center in the United States. In hindsight, the patient had a history of recurrent infections, bronchiectasis, hearing loss, and VSD repair that could not be previously explained. CONCLUSIONS: Despite the challenge of timely diagnosis and the wide spectrum of clinical features that we are still discovering, WHIM syndrome tends to be a milder immunodeficiency that is highly manageable. As presented in this case, most patients respond well to G-CSF injections and newer treatments such as small-molecule CXCR4 antagonists.
Kurniawan S, Mathur G, Bogun Y
… +1 more, Kidson-Gerber G
Case Rep Hematol
· 2023 · PMID 36643956
·
Full text
Primary cardiac lymphoma (PCL) is a rare, potentially fatal subtype of non-Hodgkin's lymphoma. Thrombocytopenia has also infrequently been reported in association with other primary cardiac tumours and can add substantia...Primary cardiac lymphoma (PCL) is a rare, potentially fatal subtype of non-Hodgkin's lymphoma. Thrombocytopenia has also infrequently been reported in association with other primary cardiac tumours and can add substantial morbidity to an already life-threatening diagnosis if present. We report a rare case of a 70-year-old man who presented with thrombocytopenia (91 × 10/L) and progressive right heart failure. Transthoracic echocardiogram revealed a large 8 × 4 cm right atrial mass with severe tricuspid obstruction, confirmed as PCL on subsequent endomyocardial biopsy and immunohistochemistry. He deteriorated into cardiogenic shock precipitated by atrial fibrillation, with worsening thrombocytopenia (18 × 10/L) in the setting of ischaemic hepatitis. The patient stabilised with initiation of high dose steroids prior to tissue diagnosis and platelet counts normalised following chemotherapy. This case demonstrates the importance of considering PCL as a diagnosis and preemptive initiation of high dose steroids to improve outcomes in PCL associated with cardiogenic shock. This case also elucidates a potential pathophysiological association between PCL and thrombocytopenia.
Braune J, Rieger K, Blau O
… +3 more, Keller U, Bullinger L, Krönke J
Case Rep Hematol
· 2022 · PMID 36619478
·
Full text
The majority of patients with acute myeloid leukemia (AML) with the mutation achieve remission with intensive chemotherapy. However, many patients subsequently relapse, which occurs frequently within the first 2-3 years...The majority of patients with acute myeloid leukemia (AML) with the mutation achieve remission with intensive chemotherapy. However, many patients subsequently relapse, which occurs frequently within the first 2-3 years after therapy, while late relapse after more than 10 years is rare and can also represent secondary/therapy-associated AML without the NPM1 mutation. Here, we present a case of -mutated AML that developed medullary and extramedullary relapse 17 years after allogeneic stem cell transplantation, maintaining the mutation and all other genetic alterations detected at first diagnosis. This exceptionally long latency between diagnosis and relapse of a genetically highly related leukemic clone implies the existence of therapy-resistant, persisting dormant leukemic stem cells in mutant AML.
Du ZZ, Zhou M, Ling J
… +5 more, Cao L, Kong L, Cheng S, Xiao P, Hu S
Case Rep Hematol
· 2022 · PMID 36590870
·
Full text
Treatment with immune checkpoint inhibitors (ICI) such as carrizumab leads to immune-mediated adverse effects including severe acute graft versus host disease (aGVHD) and secondary hemophagocytic syndrome (sHLH). Herein,...Treatment with immune checkpoint inhibitors (ICI) such as carrizumab leads to immune-mediated adverse effects including severe acute graft versus host disease (aGVHD) and secondary hemophagocytic syndrome (sHLH). Herein, we present two cases where aGVHD and sHLH developed after ICI administration, which was treated using methylprednisolone (MP). They developed high-grade fever complicated with liver dysfunction and diarrhea 1 day after ICI administration. Treatment with MP does not alleviate symptoms because of steroid resistance. Hyperbilirubinemia, rash with blisters, and watery diarrhea showed severe aGVHD. Hyperferritinemia, hypertriglyceridemia, and cytopenias suggested the diagnosis of HLH and met the criteria for sHLH diagnosis. They were thus administered intravenous high-dose MP, methotrexate (MTX), basiliximab, ruxolitinib, etc, which resolved these symptoms.
Case Rep Hematol
· 2022 · PMID 36568338
·
Full text
Rosai-Dorfman disease (RDD) is a rare and benign nonLangerhans cell histiocytosis. RDD commonly affects children and young adults typically presenting with massive, painless, and bilateral cervical lymphadenopathy. Extra...Rosai-Dorfman disease (RDD) is a rare and benign nonLangerhans cell histiocytosis. RDD commonly affects children and young adults typically presenting with massive, painless, and bilateral cervical lymphadenopathy. Extranodal involvement is present in about 40% of cases, and bone marrow infiltration is rare and unusual. RDD prognosis is usually good, however, involvement of bone marrow is associated with poor prognosis. We report a case of RDD with bone marrow involvement occurring in a 5-year-old female. She was admitted for asthenia, gingival bleeding, and diffuse bone pain without fever. Physical examination showed pallor, petechiae over the abdomen, painless and bilateral cervical lymphadenopathy, and several bony nodules, without splenomegaly or hepatomegaly. Cell blood count revealed microcytic hypochromic anemia with thrombocytopenia. Bone marrow aspiration showed infiltration by large histiocytes with hypochromatic nuclei and abundant vacuolated cytoplasm without emperipolesis. Biopsies of bone marrow, lymph node, and bone revealed immunohistochemical features of RDD: the histiocytes were positive for CD68 and S100 protein, but negative for CD1a. The patient initially received symptomatic treatment. One week after admission, she died of septic shock before the final establishment of RDD diagnosis. This case report highlights that bone marrow involvement in RDD is rare and associated with poor prognosis. We also aim to emphasize the obligation of bone marrow exploration in patients with RDD and presenting cytopenias in order to make an early diagnosis of bone marrow infiltration.
Boi-Doku Pepra-Ameyaw N, Ghunney WK, Baafi Ampofo E
… +1 more, Olayemi E
Case Rep Hematol
· 2022 · PMID 36568337
·
Full text
Chronic eosinophilic leukemia (CEL) is a rare chronic myeloproliferative disorder characterized by sustained eosinophilia. Although the incidence of CEL is uncertain, it can be clinically devastating as it has a propensi...Chronic eosinophilic leukemia (CEL) is a rare chronic myeloproliferative disorder characterized by sustained eosinophilia. Although the incidence of CEL is uncertain, it can be clinically devastating as it has a propensity to affect several important organ systems. This is of particular significance in Sub-Saharan Africa where helminthic infections are a more prevalent cause of eosinophilia. To the best of our knowledge, we present the first reported case of CEL complicated by cardiac disease in a Ghanaian. He presented with a history of orthopnoea and dyspnoea on exertion, and examination revealed a pansystolic murmur over the mitral region and moderate splenomegaly. Good symptomatic control was achieved using hydroxyurea after which haematologic and cytogenetic remission was achieved after 12 weeks on a tyrosine kinase inhibitor. Physicians working in low resource environments should exclude clonality in patients presenting with eosinophilia and end-organ damage.
Case Rep Hematol
· 2022 · PMID 36510501
·
Full text
Hemophagocytic lymphohistiocytosis (HLH) is a rare potentially life-threatening condition characterized by aberrant inflammation that can be related to genetic or sporadic forms. In both forms, triggering factors may be...Hemophagocytic lymphohistiocytosis (HLH) is a rare potentially life-threatening condition characterized by aberrant inflammation that can be related to genetic or sporadic forms. In both forms, triggering factors may be involved. Early detection of the underlying cause is crucial for therapeutic decision, while early intervention might be associated with better outcomes. The largest descriptions in the literature on HLH refer to pediatric cases. Adolescents and adults may also be affected, but there is scarce evidence regarding their diagnosis and management. We describe here the case of a 68-year-old Swiss woman with HLH, in whom an extensive search for underlying causes was performed, but neither trigger nor pathogenic variant was found. An early intervention first with dexamethasone and later with cyclosporine was performed. The patient showed a favorable response and did not require further hospitalization; however, one year after diagnosis, it was not possible to suspend cyclosporine due to recurrence of laboratory inflammation signs by drug tapering. The occurrence of HLH idiopathic forms represents a challenge; failure to identify the underlying triggering cause generates uncertainty, endless diagnostic investigations, and consequently additional delays in the treatment. This manuscript addresses the difficulties on this issue.