DOCSLIB.ORG

Chronic Thrombocytopenia As the Initial Manifestation of STIM1

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Chronic Thrombocytopenia As the Initial Manifestation of STIM1 Chronic Thrombocytopenia as the Initial Manifestation of STIM1-Related Disorders Anjali Sura, MD,a Joseph Jacher, MS,b Erin Neil, DO,c Kathryn McFadden, MD,d Kelly Walkovich, MD,e Mark Hannibal, MD, PhDb Pediatric thrombocytopenia has a wide differential diagnosis, and recently, abstract genetic testing to identify its etiology has become more common. We present a case of a 16-year-old boy with a history of chronic moderate thrombocytopenia, who later developed constitutional symptoms and bilateral hand edema with cold exposure. Laboratory evaluation revealed evidence both of inflammation and elevated muscle enzymes. These abnormalities persisted over months. His thrombocytopenia was determined to be immune mediated. Imaging revealed lymphadenopathy and asplenia, Divisions of aPediatric Rheumatology, bPediatric Genetics, and a muscle biopsy was consistent with tubular aggregate myopathy. cPediatric Neurology, and ePediatric Hematology-Oncology d Ophthalmology evaluation noted photosensitivity, pupillary miosis, and iris and Department of Pathology, University of Michigan, Ann Arbor, Michigan hypoplasia. Genetic testing demonstrated a pathogenic variant in STIM1 consistent with autosomal dominant Stormorken syndrome. Our case is novel Mr Jacher, Ms Sura, Ms Neil, Mr Hannibal, Ms McFadden, and Ms Walkovich all participated in because of the overlap of phenotypes ascribed to both gain-of-function and literature review, drafted the initial manuscript, and loss-of-function pathogenic variants in STIM1, thereby blurring the then reviewed and revised the manuscript; and all distinctions between these previously described syndromes. Pediatricians authors approved the final manuscript as submitted and agree to be accountable for all aspects of should consider checking muscle enzymes when patients present with the work. thrombocytopenia and arthralgia, myalgia, and/or muscle weakness. Our case DOI: https://doi.org/10.1542/peds.2019-2081 highlights the importance of both multidisciplinary care and genetic testing in Accepted for publication Oct 28, 2019 cases of chronic unexplained thrombocytopenia. By understanding the ’ Address correspondence to Anjali Sura, MD, underlying genetic mechanism to a patient s thrombocytopenia, providers are Pediatric Rheumatology, SUNY Upstate, 725 Irving better equipped to make more precise medical management Ave, Suite 805, Syracuse, NY 13210. E-mail: suraa@ recommendations. upstate.edu PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275). Copyright © 2020 by the American Academy of Thrombocytopenia, defined as a platelet childhood are due to genetic pathogenic Pediatrics count ,150 000 K/mL, is a commonly variants that disrupt normal platelet FINANCIAL DISCLOSURE: The authors have indicated found laboratory abnormality in development and/or platelet function.1 they have no financial relationships relevant to this childhood. Many cases of Traditionally, inherited article to disclose. thrombocytopenia are spurious from thrombocytopenias have been FUNDING: No external funding. improper handling or inadequate classified on the basis of platelet size or POTENTIAL CONFLICT OF INTEREST: Mr Jacher is anticoagulation in the collection tube, by bleeding risk. However, because the a current employee of Blueprint Genetics, and his fi contributing to platelet clumping. Other bleeding risk associated with many of af liation during the drafting and submission of this cases are attributable to commonly article was as a full-time employee of the University the hereditary thrombocytopenias is of Michigan; the remaining authors have indicated acquired etiologies, such as infections, often of modest clinical impact, recent they have no potential conflicts of interest to medication exposures, malignancy, emphasis has been placed on managing disclose. underlying disorders that promote the other associated congenital immune-clearance, consumption, or abnormalities, such as limb anomalies To cite: Sura A, Jacher J, Neil E, et al. Chronic inadequate production of platelets. or hearing loss as well as their Thrombocytopenia as the Initial Manifestation of A smaller fraction of persistent or propensity for renal failure, bone STIM1-Related Disorders. Pediatrics. 2020;145(4): e20192081 intermittent thrombocytopenia cases in marrow aplasia, immunodeficiency, and Downloaded from www.aappublications.org/news by guest on September 27, 2021 PEDIATRICS Volume 145, number 4, April 2020:e20192081 CASE REPORT hematologic malignancy.2 Although persisted, prompting an evaluation (Invitae clinical diagnostic there has been recent hesitation in for inflammatory myositis and laboratory) identified a pathogenic using genetic testing for chronic a concurrent evaluation for the variant in STIM1 (c.910C.T, childhood thrombocytopenia,3 careful underlying etiology of his p.Arg304Trp [R304W]), consistent clinical phenotyping in concert with thrombocytopenia. MRI results of his with a diagnosis of autosomal genetic characterization of persistent lower extremities were negative for dominant STIM1-related conditions, thrombocytopenia is valuable to inflammatory myositis but including Stormorken syndrome. Of accurately gauge individual patient’s demonstrated bilateral hip and knee note, after the recognition of his risks and ensure a comprehensive effusions, notable inguinal STIM1-related variant, he was management plan (Table 1). lymphadenopathy (with many nodes evaluated by ophthalmology and measuring .1 cm), and hyperintense noted to have photosensitivity, miotic In this article, we describe a case of linear signal changes in the mid- and pupils that dilated poorly, and iris persistent moderate distal femurs with patchy red marrow hypoplasia. thrombocytopenia from infancy in signal. To further evaluate the a patient who presented with elevated creatine kinase, a muscle DISCUSSION elevated muscle enzymes and biopsy was performed, which fl in ammatory markers. Through revealed large vacuoles consistent This patient, with chronic isolated collaborative multispecialty with TAM on both light and electron thrombocytopenia of unknown evaluation, he was determined to microscopies (Fig 1). etiology, received an extensive have previously unrecognized tubular workup by a multidisciplinary team, Bone marrow aspiration biopsy result aggregate myopathy (TAM), including rheumatology, hematology, was negative for malignancy but lymphadenopathy, asplenia, and neurology, and genetics, to reveal fi significant for toxic granulation of subtle immunode ciency with a STIM1 pathogenic variant neutrophils, consistent with a unifying pathogenic variant in c.910C.T, p.Arg304Trp (R304W). If Stromal Interaction Molecule 1 inflammation. Circulating antibodies a hematologist was working alone to STIM1 against platelets (both ( ). This case highlights both the manage his thrombocytopenia, it is immunoglobulin G and value of multispecialty care and not likely that this etiology would immunoglobulin A) were detected, genetic testing in patients with have been discovered. In this case, the consistent with immune-mediated chronic thrombocytopenia while importance of both multidisciplinary STIM1 thrombocytopenia, although expanding the phenotype of care and genetic testing in cases of abdominal ultrasound could not gene-related variants. chronic unexplained identify a definite spleen. a-b double- thrombocytopenia is highlighted. By negative T cells were not elevated. understanding the underlying genetic PATIENT PRESENTATION The patient reported no recurrent or mechanism to a patient’s significant infections with unusual A 16-year-old Lebanese boy with thrombocytopenia, providers are organisms nor other a history of moderate better equipped to make more autoinflammatory features. thrombocytopenia (platelets ranging precise medical management Quantitative immunoglobulin levels from 60 000–100 000 K/mL), first recommendations. By using our for immunoglobulin G, documented at age 2 months, patient as an example, once the STIM1 immunoglobulin A, and presented with a sore throat, fatigue, pathogenic variant was identified, an immunoglobulin E were normal, back pain without muscle weakness, ophthalmology evaluation, abdominal whereas immunoglobulin M was and acute edema of his dorsal hands ultrasound, and neuropsychological mildly low (35 mg/dL; normal: after exposure to cold temperatures. testing were ordered. These 50–370 mg/dL). Flow cytometry His laboratory results were notable evaluations led to diagnoses of demonstrated normal T, B, and for leukocytosis (white blood count: photosensitivity, miotic pupils, iris natural killer (NK) cell absolute 11.4–20.0 K/µL with unremarkable hypoplasia, and asplenia. He will also counts. Lymphocyte mitogen differential) and elevations in his be continually monitored for proliferation testing was normal. inflammatory markers (erythrocyte contractures, ophthalmoparesis, and Lymphocyte antigen proliferation to sedimentation rate: 21–42 mm and cognitive delays and was counseled tetanus was negative, despite C-reactive protein: 0.5–2.7 mg/dL) regarding the infection risk related to adequate previous vaccination and and creatine kinase (528–973 IU/L). asplenia. Results of post-revaccination, although he did His hand edema improved with neuropsychological testing will guide demonstrate a response to Candida. naproxen. However, his laboratory whether further intervention is abnormalities, initially presumed to Genetic analysis via a 207-gene needed at school. Furthermore, be related to a viral process, Primary Immunodeficiency Panel individuals who know that they
Load more

Recommended publications
  • Pancytopenia; Study for Clinical Features and Etiological Pattern at Tertiary Care Settings in Abbottabad
    The Professional Medical Journal www.theprofesional.com ORIGINAL PROF-2253 PANCYTOPENIA; STUDY FOR CLINICAL FEATURES AND ETIOLOGICAL PATTERN AT TERTIARY CARE SETTINGS IN ABBOTTABAD Dr. Atif Sitwat Hayat1, Dr. Abdul Haque Khan2, Dr. Ghulam Hussian Baloch3, Dr.Naila Shaikh4 1. MBBS, M.D (Medicine) Assistant Professor of Medicine, ABSTRACT... Background: Pancytopenia is an important hematological problem encountered Isra University Hospital, Hala Road in our day-to-day clinical practice. The aim of our study was to evaluate clinical features and Hyderabad, Sind, Pakistan. 2. MBBS, FCPS (Medicine) etiological pattern of pancytopenia at tertiary care settings in Abbottabad. Methods: This Associate Professor of Medicine prospective study was conducted at Northern Institue of Medical Sciences (NIMS) and Ayub Liaquat University of Medical and Health Sciences Jamshoro, Sind, Pakistan. Teaching Hospital Abbottabad from 25th August 2009 to 31st July 2010. A total of 85 patients 3. MBBS, Dip Card, M.D (Medicine) fulfilling the criteria of pancytopenia were randomly selected by time-based sampling. Associate Professor of Medicine Pancytopenia was diagnosed by anemia (hemoglobin ≤ 10.0g/dl), leucopenia (WBC ≤ 4.0×109/L) Liaquat University of Medical and 9 Health Sciences Jamshoro, Sind, Pakistan. and thrombocytopenia (platelets ≤ 150×10 /L). All data has been entered and analyzed by SPSS 4. MBBS, DCP version 10.0. Results: Out of 85 patients, 62(72.94%) were males and 23(27.05%) females with Senior Lecturer, Liaquat University of Medical and M to F ratio of 2.69:1. The mean age (±SD) of males was 30.20±15.42 years, while that of females Health Sciences Jamshoro, Sind, Pakistan.
    [Show full text]
  • Section 8: Hematology CHAPTER 47: ANEMIA
    Section 8: Hematology CHAPTER 47: ANEMIA Q.1. A 56-year-old man presents with symptoms of severe dyspnea on exertion and fatigue. His laboratory values are as follows: Hemoglobin 6.0 g/dL (normal: 12–15 g/dL) Hematocrit 18% (normal: 36%–46%) RBC count 2 million/L (normal: 4–5.2 million/L) Reticulocyte count 3% (normal: 0.5%–1.5%) Which of the following caused this man’s anemia? A. Decreased red cell production B. Increased red cell destruction C. Acute blood loss (hemorrhage) D. There is insufficient information to make a determination Answer: A. This man presents with anemia and an elevated reticulocyte count which seems to suggest a hemolytic process. His reticulocyte count, however, has not been corrected for the degree of anemia he displays. This can be done by calculating his corrected reticulocyte count ([3% × (18%/45%)] = 1.2%), which is less than 2 and thus suggestive of a hypoproliferative process (decreased red cell production). Q.2. A 25-year-old man with pancytopenia undergoes bone marrow aspiration and biopsy, which reveals profound hypocellularity and virtual absence of hematopoietic cells. Cytogenetic analysis of the bone marrow does not reveal any abnormalities. Despite red blood cell and platelet transfusions, his pancytopenia worsens. Histocompatibility testing of his only sister fails to reveal a match. What would be the most appropriate course of therapy? A. Antithymocyte globulin, cyclosporine, and prednisone B. Prednisone alone C. Supportive therapy with chronic blood and platelet transfusions only D. Methotrexate and prednisone E. Bone marrow transplant Answer: A. Although supportive care with transfusions is necessary for treating this patient with aplastic anemia, most cases are not self-limited.
    [Show full text]
  • The Hematological Complications of Alcoholism
    The Hematological Complications of Alcoholism HAROLD S. BALLARD, M.D. Alcohol has numerous adverse effects on the various types of blood cells and their functions. For example, heavy alcohol consumption can cause generalized suppression of blood cell production and the production of structurally abnormal blood cell precursors that cannot mature into functional cells. Alcoholics frequently have defective red blood cells that are destroyed prematurely, possibly resulting in anemia. Alcohol also interferes with the production and function of white blood cells, especially those that defend the body against invading bacteria. Consequently, alcoholics frequently suffer from bacterial infections. Finally, alcohol adversely affects the platelets and other components of the blood-clotting system. Heavy alcohol consumption thus may increase the drinker’s risk of suffering a stroke. KEY WORDS: adverse drug effect; AODE (alcohol and other drug effects); blood function; cell growth and differentiation; erythrocytes; leukocytes; platelets; plasma proteins; bone marrow; anemia; blood coagulation; thrombocytopenia; fibrinolysis; macrophage; monocyte; stroke; bacterial disease; literature review eople who abuse alcohol1 are at both direct and indirect. The direct in the number and function of WBC’s risk for numerous alcohol-related consequences of excessive alcohol increases the drinker’s risk of serious Pmedical complications, includ- consumption include toxic effects on infection, and impaired platelet produc- ing those affecting the blood (i.e., the the bone marrow; the blood cell pre- tion and function interfere with blood cursors; and the mature red blood blood cells as well as proteins present clotting, leading to symptoms ranging in the blood plasma) and the bone cells (RBC’s), white blood cells from a simple nosebleed to bleeding in marrow, where the blood cells are (WBC’s), and platelets.
    [Show full text]
  • Thrombotic Thrombocytopenicpurpurawith
    Med J 955 - 957 The of Postgrad (1990) 66, © Fellowship Postgraduate Medicine, 1990 Postgrad Med J: first published as 10.1136/pgmj.66.781.955 on 1 November 1990. Downloaded from Thrombotic thrombocytopenic purpura with terminal pancytopenia Soo-Chin Ng' and B.A. Adam2 1Haematology Division, Department ofPathology, 2Department ofMedicine, Medical Faculty, University ofMalaya, 59100 Kuala Lumpur, Malaysia Summary: A 27 year old housewife developed thrombotic thrombocytopenic purpura during the twelfth week of pregnancy. She had partial response to initial plasma infusion and subsequent plasmapheresis. However, her clinical course was complicated by the development ofsevere pancytopenia the consequence of a hypocellular marrow. She succumbed to septicaemic shock one month after diagnosis. The development ofhypocellular marrow in thrombotic thrombocytopenicpurpura has not been reported before. Introduction Thrombotic thrombocytopenic purpura (TTP) is a 30.8 x 109/l with a slight left shift and the platelet rare disorder characterized in its form count was 10 x The direct complete by 109/1. Coomb's test was Protected by copyright. the pentad of thrombocytopenia, microangio- negative. Peripheral blood film confirmed marked pathic haemolytic anaemia (MAHA), fluctuating thrombocytopenia and a striking number of frag- neurological abnormalities, renal impairment and mented red cells and occasional nucleated red cells fever.' We report a patient with TTP in pregnancy were present. Her prothrombin time, partial who developed terminal pancytopenia secondary thromboplastin time, thrombin time and fibrin- to hypocellular marrow. ogen level were within normal limits. Bone marrow examination showed a normocellular marrow with erythroid hyperplasia and presence of normal Case report granulopoiesis and megakaryopoiesis. Urinalysis revealed microscopic haematuria.
    [Show full text]
  • A Child with Pancytopenia and Optic Disc Swelling Justin Berk, MD, MPH, MBA,A,B Deborah Hall, MD,B Inna Stroh, MD,C Caren Armstrong, MD,D Kapil Mishra, MD,C Lydia H
    A Child With Pancytopenia and Optic Disc Swelling Justin Berk, MD, MPH, MBA,a,b Deborah Hall, MD,b Inna Stroh, MD,c Caren Armstrong, MD,d Kapil Mishra, MD,c Lydia H. Pecker, MD,e Bonnie W. Lau, MD, PhDe A previously healthy 16-year-old adolescent boy presented with pallor, blurry abstract vision, fatigue, and dyspnea on exertion. Physical examination demonstrated hypertension and bilateral optic nerve swelling. Laboratory testing revealed pancytopenia. Pediatric hematology, ophthalmology and neurology were consulted and a life-threatening diagnosis was made. aDivision of Intermal Medicine and Pediatrics, bDepartment c d CASE HISTORY 1% monocytes, 1% metamyelocytes, of Pediatrics; and Divisions of Ophthalmology, Pediatric Neurology, and ePediatric Hematology, School of Medicine, 1% atypical lymphocytes, 1% plasma Dr Berk, Moderator, General Johns Hopkins University, Baltimore, Maryland Pediatrics cells), absolute neutrophil count (ANC) of 90/mm3, hemoglobin level of Dr Berk was the initial author and led the majority of A previously healthy 16-year-old the writing; Dr Hall contributed to the Hematology 3.7 g/dL (mean corpuscular volume: section; Drs Stroh and Mishra contributed to the adolescent boy presented to his local 119 fL; red blood cell distribution Ophthalmology section; Dr Armstrong contributed to emergency department because his width: 15%; reticulocyte: 1.5%), and the Neurology section; Drs Pecker and Lau served as mother thought he looked pale. For 2 platelet count of 29 000/mm3. The senior authors, provided guidance, and contributed weeks, the patient had experienced to the genetic discussion, as well as to the overall laboratory results raised concern for fi occasional blurred vision (specifically, paper; and all authors approved the nal bone marrow dysfunction, particularly manuscript as submitted.
    [Show full text]
  • Hairy Cell Leukemia
    Hairy Cell Leukemia No. 16 in a series providing the latest information for patients, caregivers and healthcare professionals Introduction Highlights Hairy cell leukemia (HCL) is a rare, slow-growing y Hairy cell leukemia (HCL) is a rare, leukemia that starts in a B cell (B lymphocyte). B cells are slow-growing leukemia that starts in a B cell white blood cells that help the body fight infection and (also called B lymphocyte), a type of white are an important part of the body’s immune system. blood cell. Changes (mutations) in the genes of a B cell can cause it y Changes (mutations) in the genes of a to develop into a leukemia cell. Normally, a healthy B cell B cell can cause it to develop into a leukemia would stop dividing and eventually die. In HCL, genetic cell. In HCL, leukemic B cells are overproduced errors tell the B cell to keep growing and dividing. Every and infiltrate the bone marrow and spleen. cell that arises from the initial leukemia cell also has the They may also be found in the liver and lymph mutated DNA. As a result, the leukemia cells multiply nodes. These excess B cells are abnormal uncontrollably. They usually go on to infiltrate the bone and have projections that look like hairs marrow and spleen, and they may also invade the liver under a microscope. and lymph nodes. The disease is called “hairy cell” y Signs and symptoms of HCL include an leukemia because the leukemic cells have short, thin enlarged spleen and a decrease in normal projections on their surfaces that look like hairs when blood cell counts.
    [Show full text]
  • Aplastic Anemia: Diagnosis and Treatment Gabrielle Meyers, MD, and Curtis Lachowiez, MD
    Clinical Review Aplastic Anemia: Diagnosis and Treatment Gabrielle Meyers, MD, and Curtis Lachowiez, MD year. 2,3 A recent Scandinavian study reported that the in- ABSTRACT cidence of aplastic anemia among the Swedish popula- Objective: To describe the current approach to diagnosis tion is 2.3 cases per million individuals per year, with a and treatment of aplastic anemia. median age at diagnosis of 60 years and a slight female 2 Methods: Review of the literature. predominance (52% versus 48%, respectively). This data is congruent with prior observations made in Barcelona, Results: Aplastic anemia can be acquired or associated with an inherited marrow failure syndrome (IMFS), where the incidence was 2.34 cases per million individu- and the treatment and prognosis vary dramatically als per year, albeit with a slightly higher incidence in males between these 2 etiologies. Patients may present along compared to females (2.54 versus 2.16, respectively).4 The a spectrum, ranging from being asymptomatic with incidence of aplastic anemia varies globally, with a dispro- incidental findings on peripheral blood testing to life- portionate increase in incidence seen among Asian pop- threatening neutropenic infections or bleeding. Workup ulations, with rates as high as 8.8 per million individuals and diagnosis involves investigating IMFSs and ruling per year.3-5 This variation in incidence in Asia versus other out malignant or infectious etiologies for pancytopenia. countries has not been well explained. There appears to Conclusion: Treatment outcomes are excellent with modern be a bimodal distribution, with incidence peaks seen in supportive care and the current approach to allogeneic young adults and in older adults.2,3,6 transplantation, and therefore referral to a bone marrow transplant program to evaluate for early transplantation is Pathophysiology the new standard of care for aplastic anemia.
    [Show full text]
  • Pancytopenia (Low White-Blood Cell Count, Low Red-Blood Cell Count, and Low Platelet Count)
    PANCYTOPENIA (LOW WHITE-BLOOD CELL COUNT, LOW RED-BLOOD CELL COUNT, AND LOW PLATELET COUNT) BASICS OVERVIEW “Pan-” refers to “all” or “whole;” “cytopenia” is a decrease in number or lack of cells in the circulating blood Pancytopenia is the simultaneous development of a low white-blood cell count (known as “leukopenia”), low red-blood cell count, to which the bone marrow does not respond to produce more red-blood cells (known as “nonregenerative anemia”), and low platelet or thrombocyte count (known as “thrombocytopenia”) White-blood cells are the cells that protect the body from infection and disease; red-blood cells are the most numerous cells in blood—they carry oxygen to the tissues of the body; “platelets” and “thrombocytes” are names for the normal cell fragments that originate in the bone marrow and travel in the blood as it circulates through the body; platelets act to “plug” tears in the blood vessels and to stop bleeding Pancytopenia is not a disease itself, rather it is a laboratory finding that can result from multiple causes SIGNALMENT/DESCRIPTION of ANIMAL Species Dogs and cats SIGNS/OBSERVED CHANGES in the ANIMAL Signs related to underlying cause Repeated episodes of fever or frequent or persistent infections from the low white-blood cell count (leukopenia) Sluggishness (lethargy) or pale gums and moist tissues of the body (known as “pallor”) from the low red-blood cell count (anemia) Tiny, pinpoint bruises (known as “petechial hemorrhage”) or bleeding from the moist tissues of the body (known as “mucosal bleeding”)
    [Show full text]
  • Persistent Fever and Pancytopenia: Lupus Flare Vs Macrophage Activation Syndrome
    The Medicine Forum Volume 16 Article 11 2015 Persistent Fever and Pancytopenia: Lupus Flare vs Macrophage Activation Syndrome Amy McGhee, MD Thomas Jefferson University, [email protected] Follow this and additional works at: https://jdc.jefferson.edu/tmf Part of the Medicine and Health Sciences Commons Let us know how access to this document benefits ouy Recommended Citation McGhee, MD, Amy (2015) "Persistent Fever and Pancytopenia: Lupus Flare vs Macrophage Activation Syndrome," The Medicine Forum: Vol. 16 , Article 11. DOI: https://doi.org/10.29046/TMF.016.1.010 Available at: https://jdc.jefferson.edu/tmf/vol16/iss1/11 This Article is brought to you for free and open access by the Jefferson Digital Commons. The Jefferson Digital Commons is a service of Thomas Jefferson University's Center for Teaching and Learning (CTL). The Commons is a showcase for Jefferson books and journals, peer-reviewed scholarly publications, unique historical collections from the University archives, and teaching tools. The Jefferson Digital Commons allows researchers and interested readers anywhere in the world to learn about and keep up to date with Jefferson scholarship. This article has been accepted for inclusion in The Medicine Forum by an authorized administrator of the Jefferson Digital Commons. For more information, please contact: [email protected]. McGhee, MD: Persistent Fever and Pancytopenia Persistent Fever and Pancytopenia: Lupus Flare vs Macrophage Activation Syndrome Amy McGhee, MD INTRODUCTION and resuming mycophenolate mofetil for immunosup- Macrophage activation syndrome (MAS), first named in pression. The plan was to change this to cyclosporine as 1993, is a subcategory of hemophagocytic lymphohistio- an outpatient to prevent MAS.
    [Show full text]
  • Dental Management of Idiopathic Aplastic Anemia
    PEDIATRICDENTISTRY/Copyright ’9 1981by TheAmerican Academy of Pedodontics/Vol. 3, No. 3 CAS Dental managementof idiopathic aplastic anemia: report of a case JamesE. Jones, DMD, MS ThomasD. Coates, MD Charles Poland, DDS Abstract since the disease has been knownto occur at any age. Usually, the onset is gradual, but acute fulminating Aplastic anemiais a serious and often fatal hematological ,4 disorder characterized by hypoplastic bone marrowand cases have been reported? The mortality in severe peripheralpancytopenia. Epistaxis, oral lesions and gingival cases is more than 50 percent during the first year and hemorrhageoften necessitates multiple platelet transfusions may be greater than 70 percent at five years? Aplastic in these patients. The use of aminocaproicacid to control anemia is normochromic and normocytic, and mani- hemorrhagicepisodes has been especially beneficial in fests itself as a pancytopenia. The bone marrow patients with bone marrowhypoplasia as they often become is devoid of megakaryocytes, myeloid and erythroid refractory to repeatedtransfusions. In this case precursors? presentation, a 15-year-old black female with idiopathic Clinical signs and symptoms include: 1) severe aplastic anemiawas treated with a combination of modalities including initial platelet transfusion, oral hygiene weakness and dyspnea even after mild physical exer- tion, 2) pallor of the skin, 3) numbnessand tingling instruction, dental prophylaxis and systemic aminocaproic acid. The health of the oral tissues greatly improved the extremities, 4) decreased resistance to infection, following this regimen. and 5) petechiae of the skin and mucous membranes; These clinical manifestations are caused by the inabil- Introduction ity of the hematopoietic system to deliver enough red Aplastic anemia is a serious and often fatal hema- cells, white cells and platelets to the peripheral circu- tologic disorder characterized by hypoplastic bone lation.
    [Show full text]
  • Febrle Pancytopenia, Hematochezia and Hematemesis As the Presenting Manifestations of Systemic Lupus Erythematosus
    MOJ Immunology Case Report Open Access Febrle pancytopenia, hematochezia and hematemesis as the presenting manifestations of systemic lupus erythematosus Abstract Special Issue - 2018 Systemic lupus erythematosus (SLE) may extremely rarely present with gastrointestinal Natalia G Vallianou, Georgios Kyriakopoulos, symptoms. Gastrointestinal involvement in SLE is not uncommon, but more than half of these manifestations are attributed to adverse reactions to lupus medications and Kyriakos Trigkidis, Eleni Geladari, Marina viral or bacterial infections, which occur more commonly in these immunosuppressed Sikara, Theodoros Argyrakos, Evangelos P patients. Herein, we describe a female patient who presented with fever of unknown Kokkinakis origin and eventually with hematochezia and hematemesis, without any abdominal Evangelismos General Hospital, Greece pain. Correspondence: Natalia G. Vallianou, Evangelismos General Keywords: pancytopenia, hematochezia, hematemesis, hematochezia Hospital, 5 Pyramidon str, 19005, Municipality of Marathonas, Athens, Greece, Tel 2294092359, Email Received: May 25, 2017 | Published: November 26, 2018 Introduction Gastrointestinal involvement per se in SLE usually presents with abdominal pain due to vasculitis, pseudo-obstruction, pancreatitis or peritonitis. Presentation with gastrointestinal hemorrhage is extremely rare. We describe a patient who was admitted to our hospital due to febrile pancytopenia and who developed hematochezia and hematemesis, which were attributed to gastrointestinal involvement of SLE. Case presentation A twentyyears old female patient presented to the Emergency Department of our Hospital due to febrile pancytopenia. From her past medical history, the patient had autoimmune thyroiditis. Fever had started twenty days before and reached 40°C. Apart from fever, the patient complained for anorexia, but had no other specific symptoms. On examination, she had a mildly enlarged liver and spleen.
    [Show full text]
  • Myelofibrosis with Transient Pancytopenia and CD-68 Marker Positivity: a Case to Review
    Arch Intern Med Res 2019; 2(3): 056-060 DOI: 10.26502/aimr.0012 Review Article Myelofibrosis with Transient Pancytopenia and CD-68 Marker Positivity: A Case to Review Muhammad Sohaib Asghar*, Saad Aslam, Durre Naman, Maryam Zafar, Narmin Khan, Haris Alvi, Uzma Rasheed, Abubakar Tauseef Resident Physician, Dow University Hospital, Karachi, Pakistan *Corresponding author: Muhammad Sohaib Asghar, Resident Physician, Dow University Hospital, Karachi, Pakistan, Tel: +92334-3013947; E-mail: [email protected] Received: 25 September 2019; Accepted: 03 October 2019; Published: 26 October 2019 Citation: Muhammad Sohaib Asghar, Saad Aslam, Durre Naman, Maryam Zafar, Narmin Khan, Haris Alvi, Uzma Rasheed, Abubakar Tauseef. Myelofibrosis with Transient Pancytopenia and CD-68 Marker Positivity: a Case to Review. Archives of Internal Medicine Research 2 (2019): 056-060. Abstract Keywords: Myelofibrosis; Splenomegaly; Bone Myelofibrosis is characterized by a group of clonal marrow neoplastic proliferation under the influence of cytokines such as fibroblast growth factor (particularly by 1. Introduction megakaryocytes) which leads to the replacement of Myelofibrosis was first described by Gustav Heuck [1]. normal hematopoietic bone marrow with connective It was characterized as a myeloproliferative condition tissue via collagen fibrosis. It most commonly affects by William Dameshek [2]. Primary myelofibrosis patients in the fifth and sixth decade of their life. (PMF) is a chronic progressive myeloproliferative Constitutional symptoms such as fatigue along with disorder with a median survival of about 5.5 years massive splenomegaly, easy fatigability, and easy (ranging from less than 1 year to greater than 30 years. bruising are reported most commonly in such patients. The median age at which PMF gets diagnosed is 65 Here we present a case of a 76-year-old male who was years.
    [Show full text]