Case Reports in Hematology最新文献

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.

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.

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.

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. Case Report. 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.

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.

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.

A 69-year-old woman was diagnosed with acute myeloid leukemia (AML) with an FMS-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD) mutation. Complete remission (CR) was achieved after induction therapy, but AML resulted in a hematological relapse two months after the consolidation chemotherapy. Relapse was accompanied by multiple skin lesions that demonstrated leukemic cell infiltration as well as a drooping right eyelid with extroversion of the eye due to right oculomotor palsy. Gilteritinib was started as salvage therapy, and bone marrow blasts decreased to 0.8% after one month. Two months later, the eye symptoms improved, and the patient underwent cord blood transplantation (CBT). The skin lesions disappeared after the conditioning regimen, and the patient achieved CR status with complete donor chimerism at day 28. Gilteritinib was restarted as posttransplant maintenance therapy on day 53 of CBT. No adverse events other than mild hepatotoxicity were observed, and the patient was alive and in CR status, while continuing gilteritinib at one year and seven months after CBT. Bridging and posttransplant maintenance therapy with gilteritinib may be a promising therapeutic option for relapsed AML with the FLT3-ITD mutation in elderly patients.

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.

Fat embolization syndrome (FES) is often seen as a complication of fractures and has been known to cause respiratory failure, rashes of the skin, thrombocytopenia, and neurological damage. Nontraumatic FES is uncommon and occurs due to bone marrow necrosis. Vaso-occlusive crisis in sickle cell patients secondary to steroid therapy is a rare entity and not widely acknowledged. We report a case of FES secondary to steroid therapy administered for a patient with intractable migraine. FES is an uncommon yet serious complication that occurs due to bone marrow necrosis and is usually associated with increased mortality or damaging neurologic sequelae for the surviving patient. Our patient was initially admitted for intractable migraine and worked up to rule out any acute emergency conditions. She was then given steroids for her migraine which did not subside with the initial treatment. Her condition worsened, and she developed respiratory failure along with altered mental status requiring care in the intensive care unit (ICU). Imaging studies showed microhemorrhages throughout the cerebral hemispheres, brainstem, and cerebellum. The imaging of her lungs confirmed severe acute chest syndrome. The patient also had hepatocellular and renal injuries indicative of multiorgan failure. The patient was treated with a red cell exchange transfusion (RBCx) leading to an almost complete recovery in a few days. The patient, however, had residual neurological sequelae with the presence of numb chin syndrome (NCS). This report thus highlights the need to recognize potential multiorgan failure secondary to steroid treatment and the importance of initiating treatment with red cell exchange transfusions to decrease the risk of such complications secondary to steroids.