DOCSLIB.ORG

7/7/2019 1 the CBC And

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
7/7/2019 1 the CBC And 7/7/2019 The CBC and Me: Identifying and Evaluating Abnormalities Bradley DeNardo, MD Assistant Professor of Pediatrics Division of Pediatric Hematology/Oncology The Warren Alpert Medical School of Brown University Disclosure • No conflicts of interest to disclose. Learning Objectives 1. Describe the diagnostic testing and clinical approach to pediatric anemia. 2. Identify WBC abnormalities suspicious for hematologic disease. 3. Recognize common platelet disorders that result in thrombocytopenia or thrombocytosis. 1 7/7/2019 Blood Basics • Adult blood: • Components of Blood: • Blood volume: 5-6L • Formed elements: blood cells • 7% body weight • Erythrocytes • Circulates the entire body in 20-60 • Leukocytes seconds • Platelets • Plasma • Childhood blood: • 90% water • 10% solutes • Total blood volume: body weight • Neonate: 85 ml/kg • 1 month: 105 ml/kg • >2 months: 70-80 ml/kg • Serum = plasma without clotting factors Blood Basics • Hematopoiesis: • Continuous production of blood cell population. • Bone marrow cavities and canals. • Mediated: • Growth factors • Hematopoietic stem cells Blood Basics 2 7/7/2019 Blood Basics Blood Basics: The CBC • Other values: • Red Blood Cell Indices: • MCV • MCH • MCHC • RDW • MPV Blood Basics: The CBC Manual Automated 3 7/7/2019 Blood Basics: The Red Blood Cell • Biconcave disc • 7.8 μm diameter • Highly flexible membrane • 100-120 day lifespan • 3.9-6 million cells/μl • Produce 2.4 million RBCs/second • Simple interior: • Lack of nucleus • Lack of organelles • Enzymes for glycolysis • Hemoglobin Blood Basics: Hemoglobin • Iron-containing metalloprotein. • Structure • Responsible for O transport. • Heme Group: 2 • Protoporphyrin IX • 35% of total RBC content. • Single atom of Iron • 96% by dry content • Globin: • Polypeptide chain • Heme + Globin = Hemoglobin Chain: • 16,000 g/mol • Variety of different chains • Hemoglobin Protein: • 4 loosely bound hemoglobin chains Blood Basics: Hemoglobin 4 7/7/2019 Blood Basics: The Newborn Screen Pediatric Anemia • Defining Anemia: • Reduction in RBC mass. • Reduction in Hgb concentration. • Varies substantially: • Age • Race • Gender • Anemia: • Hct or Hgb below the 2.5th% Classifying Pediatric Anemia: Size (MCV) • Microcytic (<70) • Normocytic (70-80) • Macrocytic (>85) • Iron deficiency • Infection • Vitamin B12/folate deficiency • Lead intoxication • Acute blood loss • Hypothyroidism • Thalassemia • Anemia of • Drug-induced • Sideroblastic anemia inflammation • Post-splenectomy • Anemia of • Drug-induced • Diamond-Blackfan inflammation • Renal disease • Bone marrow failure • Zinc deficiency • TEC • Bone marrow • Hemoglobinopathy infiltration • Hemolytic anemia: • Liver disease • • Reticulocytosis Autoimmune • Sickle Cell Disease • Membrane defect • Enzyme defect • MAHA 5 7/7/2019 Classifying Pediatric Anemia: Cause (Retic) ↓ Reticulocytes ↑ Reticulocytes ↑↓ Reticulocytes • Decreased Production • Increased Destruction • RBC Loss • Iron deficiency • Hemoglobinopathy • Thalassemia • Hemolytic anemia: • Hemorrhage • Lead intoxication • Autoimmune • Acute blood loss • B12/folate/zinc • Membrane defect • Chronic blood loss • • Enzyme defect Infection • • Drug-induced • MAHA Liver disease • Anemia of Inflam. • Blood loss • Bone marrow disease • Hypersplenism • Hypothyroidism • Renal disease • Sideroblastic anemia • DBA and TEC Classifying Pediatric Anemia: Age • Birth to 3 months • 3 to 6 months • 9 months to teens • Blood loss • Hemoglobinopathy • Nutritional deficiency • Alloimmune hemolysis • Infection • All others…. • Rh disease • ABO incompatibility • Congenital infection • Intrinsic hemolytic anemia • Twin-to-twin transfusion Newborn Anemia • Physiologic Anemia on Infancy • ↑ tissue oxygenation • ↓ erythropoietin • Anemia in newborns: • Hgb <13.5: birth-4 weeks • Hgb <9: weeks 6-9 • Signs of hemolysis • Signs of anemia • Irritability • Poor feeding 6 7/7/2019 Approaching Anemia: Clinical • Age • Symptoms: • Dietary history: • severity and duration • Formula or breastfed • Sex • Cow versus goat milk • X-linked diseases: G6PD • Acute: • Age of onset deficiency • lethargy, tachycardia, pallor • Daily volume • Postmenarchal female • Chronic: • Pica • Iron-rich food intake • Race/Ethnicity • none or minimal sx’s • Thalassemia: • PMHx • Mediterranean • Hemolysis: • Newborn jaundice • Southeast Asian • jaundice • Newborn screen • Hemoglobin S and C • change in urine color • Prior CBC’s • African descent • Scleral icterus • Underlying medical conditions • Hispanic populations • Bleeding: • Drug/toxin exposure • Incidental or symptomatic? • GI • Family History • Chronic epistaxis • CCY or splenectomy • menstrual • Gallstones Approaching Anemia: Exam • Assessing pallor • Assessing hemolysis • Clues Approaching Anemia Clinical Assessment Hemoglobin MCV Reticulocytes Macrocytic >85 Absolute Reticulocyte Count Reduced Production ARC = % Retic x RBC Normocytic 70-80 Increased Destruction ARC <100 x109 Microcytic <70 INADEQUATE RESPONSE RBC Loss ARC >100 x109 APPROPRIATE RESPONSE 7 7/7/2019 MCV <70 Microcytic Anemia Reticulocyte <3% ARC <100,000 • Iron Deficiency Anemia • IDA versus Thalassemia • Thalassemia • Red Cell Distribution Width (RDW) • Low RDW: Thal • High RDW: IDA • Less Common • Lead Intoxication • RBC Count • • Anemia of Inflammation (<20%) >5 million: Thal • <5 million: IDA • Congenital Sideroblastic Anemia • Zinc Deficiency • Mentzer Index = MCV/RBC • <11: Thal minor • >13: IDA Iron Deficiency Anemia • Causes: Nutritional deficiency • Other Causes: • Infants • Blood loss: • Exclusive BF without iron supplementation • Menorrhagia • Formula with insufficient iron • Chronic epistaxis • Early transition to cows milk • Occult GI bleeding (IBD) • Toddlers • Reduced iron absorption: • Excessive cows milk intake • Celiac disease • >24 ounces/day • Autoimmune gastritis • H. pylori gastritis • Adolescents • Alternative diets: vegetarians, vegans • Rare genetic conditions: • Endurance athletics • IRIDA • Obesity • SLC11A2 mutation Iron Metabolism 8 7/7/2019 Iron Deficiency Anemia • Diagnosis: • Age <3 yo, typical presentation: • CBC sufficient. • Age >3 yo or atypical presentation • CBC • Iron Studies • Iron Studies • Serum iron: 1% measured iron • Ferritin: 99% measured iron • TIBC: transferrin. • Iron Saturation = serum iron/TIBC Iron Deficiency Anemia • Treatment • Clinical Manifestations: • Oral supplementation • Neurocognitive • 3-6 mg/kg elemental iron • Exercise capacity • Once daily • Febrile seizures • Between meals without dairy • Pica • With water or juice (vitamin C) • Cerebral vein thrombosis • Dietary changes • Restless leg syndrome • Limit cows milk: 6-20 oz/day • ? Infection and immunity • Discontinue the bottle! • Nonanemic iron deficiency: • Treating Teens: • • Easy fatigue in athletes 65-130 mg once daily (1-2 tabs 1xD) • • Cognitive function in adolescents Combine with ascorbic acid MCV 70-80 Hemolytic Anemia Reticulocyte >3% ARC >100,000 • Intrinsic: • Extrinsic: • Lab Studies • • Autoimmune • Membrane Defects • Warm-reactive Reticulocytosis • Hereditary Spherocytosis • Cold agglutinin • Hyperbilirubinemia • Hereditary Elliptocytosis • Paroxsymal Cold Hemoglobinuria • ↑ LDH • Enzyme Defects • SLE • ↓ Haptoglobin • G6PD deficiency • Evan’s syndrome • Plasma-free Hgb • Pyruvate Kinase • Alloimmune deficiency • Rh disease of NB • Urine • • Hemoglobinopathies ABO incompatibility • Hemoglobinuria • Microangiopathic • Bilirubinuria • Sickle cell disease • HUS • Hemoglobin E • TTP • Peripheral smear • Hemoglobin C • DIC • Mechanical • Thalassemia • Congenital heart disease • Artificial heart valve 9 7/7/2019 Pure Red Blood Cell Aplasia Transient Erythroblastopenia of Diamond Blackfan Anemia (DBA) Childhood (TEC) • Congenital • Acquired • ribosomal protein mutations • Unknown etiology • Presents <1 yo (90%) • Presents 1-4 yo (80%) • No prior illness • Hgb 2-6 • Preceding viral illness • Retic <1% • Hgb 3-9 • MCV: macrocytic • Retic <1% • Elevated Hgb F • MCV normal • Congenital abnormalities (30-50%) • Normal Hgb F • Life-long condition • No anatomic abnormalities • Transfusion support • Steroid therapy • Spontaneous resolution • Risk of malignancy • Weeks to months • Rare need for transfusion White Blood Cell Abnormalities • Leukocytosis • Lymphocytosis: ALC >4000 • Leukopenia • Lymphocytopenia: ALC <1500 • Abnormal WBC forms in periphery Absolute Neutrophil Count (ANC) WBC x %Neutrophils/100 Neutropenia • Definitions: • Prevalence of neutropenia in U.S. • Mild ANC 1000-1500 • African-American: 4.5 to 10.5% • Moderate ANC 500-1000 • Haiti: 8.5% • Severe ANC <500 • Barbados/Trinidad: 6.4% • Jamaica: 2.7% • Infancy: • Mexican: 0.38% • 0-7 days ANC <5000 • Caucasian: 0 to 0.79% • 14 days to 1 yr ANC <1000 10 7/7/2019 Benign Familial Neutropenia • African-American: ANC <2000 • West Indians, Arab Jordanians, Yemenite Jews • Traced to common West African allele: • SNP in DARC gene • Receptor for inflammatory cytokines • Normal bone marrow reserve of granulocytes • Defective granulocyte release from the marrow • Neutropenia is benign • No propensity to infection Neutropenia: Causes • Acquired • Congenital • Postinfectious • Kostman Syndrome (SCN) • Drug-induced • Shwachman-Diamond Syndrome • Nutritional • WHIM Syndrome • Vit B12/folate deficiency • GATA2 Deficiency • Copper deficiency • Chediak-Higashi Syndrome • Immune • Glycogen Storage Disease Type 1b • Alloimmune neonatal • GCSF receptor mutation • Chronic autoimmune • Collagen vascular disease • Immunodeficiency • Cyclic Neutropenia • Hypersplenism • Bone marrow disorders • Leukemia • Aplastic
Load more

Recommended publications
  • Green Teeth Associated Hyperbilirubinemia in Primary Dentition
    https://doi.org/10.5933/JKAPD.2017.44.3.378 J Korean Acad Pediatr Dent 44(3) 2017 ISSN (print) 1226-8496 ISSN (online) 2288-3819 Green Teeth Associated Hyperbilirubinemia in Primary Dentition Min Kyung Park1†, Yeji Sun1†, Chung-Min Kang1, Hyo-Seol Lee2, Je Seon Song1 1Department of Pediatric Dentistry, College of Dentistry, Yonsei University 2Department of Pediatric Dentistry, College of Dentistry, Kyung-Hee University Abstract There are many reasons for tooth discoloration. An increase in the bilirubin level may cause tooth discolorations. Such cases are rare, but most involve tooth discoloration with a greenish hue. The purpose of this case report is to describe green discoloration of the primary dentition in the presence of neonatal hyperbilirubinemia. 2 boys aged 16 and 22-months presented with chief complaints of erupting teeth of abnormal color. Their primary teeth exhibited a greenish discoloration along enamel hypoplasia. Both patients were born prematurely with a low birth weight and had been diagnosed with neonatal hyperbilirubinemia. Systematic diseases can affect the hard tissue of teeth during their formation and result in changes in tooth color. Periodic follow-ups are required for establishing a normal dental condition and meeting the esthetic needs of patients. A pediatric dentist may be the first person to observe patients with discoloration in their primary dentition. In such cases the dentist can deduce the systematic disease responsible for this discoloration. Key words : Green teeth, Intrinsic discoloration, Hyperbilirubinemia, Bilirubin Ⅰ. Introduction ative materials infiltrate into the tooth structure, their removal is impossible[5-8]. Tooth discoloration can be an esthetic prob- There are many reasons for tooth discoloration, which can lem, and it is one of main reasons why patients visit dentists.
    [Show full text]
  • Clinical and Etiological Profile of Thrombocytopenia in Adults
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by UKM Journal Article Repository Research Article Clinical and etiological profile of thrombocytopenia in adults: A tertiary-care hospital-based cross-sectional study Shruti K Bhalara, Smita Shah, Hansa Goswami, RN Gonsai Department of Pathology, B.J. Medical College, Ahmedabad, Gujarat, India. Correspondence to: Shruti K Bhalara, E-mail: [email protected] Received September 6, 2014. Accepted September 13, 2014 Abstract Background: The etiologies of thrombocytopenia are diverse. Various studies on thrombocytopenia are done in the past have related to specific etiologies. Objectives: This study attempts to determine the common etiologies of thrombocytopenia in adult patients admitted to Civil Hospital, Ahmedabad. Material and Methods: A cross-sectional study was carried out at Civil Hospital, Ahmedabad. Patients with thrombo- cytopenia more than 18 years of age at admission between 1 October and 31 October 2013 were followed up during their stay in hospital, diagnosis were made, and bleeding manifestations and requirement of platelet transfusion were recorded. Results: From the 412 patients studied, dengue was diagnosed in 28.6% of patients followed by malaria in 22.8%, chronic liver disease in 15.2%, hypersplenism in 12.3%, septicemia in 6.3%, gestational thrombocytopenia and disseminated intravascular coagulation in 5.5%, immune thrombocytopenic purpura (ITP) in 3.1%, megaloblastic anemia in 1.9%, human immunodeficiency virus in 1.4%, drug-induced thrombocytopenia in 1.2%, leukemia in 0.7%, and aplastic anemia in 0.48%. Bleeding secondary to thrombocytopenia was seen in 46 (11.2%) patients; of them, 28 were diagnosed with dengue fever, 4 with chronic liver disease, 3 with sepsis, 2 with hematological malignancies, and 9 with ITP.
    [Show full text]
  • Complications of Laparoscopic Splenectomy
    ORIGINAL ARTICLE Complications of Laparoscopic Splenectomy Eduardo M. Targarona, MD, PhD; Juan Jose´ Espert, MD; Ernest Bombuy, MD; Oscar Vidal, MD; Gemma Cerda´n, MD; Vicente Artigas, MD, PhD; Manuel Trı´as, MD, PhD Hypothesis: Analysis of the type and characteristics of Results: One hundred thirteen laparoscopic splenectomies complications after laparoscopic splenectomy may per- were completed (conversion rate, 7.4%). Twenty patients mit the identification of clinical factors with predictive (18%) developed 23 complications. All were Clavien type value for the development of complications. I or II, without mortality. One complication was intraop- erative (diaphragmatic perforation), and 22 were postop- Design: Univariate and multivariate analysis of factors erative: 6 pulmonary (26%), 3 fever (13%), 8 hemorrhagic related to complications in a prospective series of lapa- (35%) (5 episodes of postoperative bleeding and 3 abdomi- roscopic splenectomies. nal wall hematomas), and 6 others (26%). Ten (43%) of the 23 were technically related. Univariate analysis showed Setting: A large tertiary referral university–teaching gen- that complications were only related to age (mean±SD, eral hospital. 55±15 vs 39±17 years; P,.008) or transfusion (50% vs 11%; P,.001). Multivariate analysis showed that the learn- Patients: One hundred twenty-two nonselected con- ing curve (P,.005; 95% confidence interval, 2.46), age secutive patients, in whom laparoscopic splenectomy was (P,.001; 95% confidence interval, 1.04), spleen weight attempted between February 1993 and July 1999. (P,.009; 95% confidence interval, 1.00), and malignant neoplasmdiagnosis(P,.007;95%confidenceinterval,3.82) Intervention: Laparoscopic splenectomy. were independent predictors of complications. Main Outcome Measures: Immediate complica- Conclusions: Laparoscopic splenectomy is feasible, and tions classified according to the Clavien score.
    [Show full text]
  • CASE REPORT Sensorineural Hearing Loss and Tinnitus As Presenting Symptoms of Polycythemia Vera
    Int. Adv. Otol. 2012; 8:(2) 317-320 CASE REPORT Sensorineural Hearing Loss and Tinnitus as Presenting Symptoms of Polycythemia Vera Ki-Hong Chang, Eun-Ju Jeon Department of Otolaryngology-HNS, The Catholic University of Korea, Seoul, Korea (KHC, EJ) Abstract: Polycythemia vera (PV) is a blood disorder in which the bone marrow makes too many red blood cells. Commonly encountered neurologic symptoms include transient ischemic attack, dementia, dizziness, tinnitus, and visual disturbances which are thought to result from thrombosis and hemorrhage. Although hearing impairment is one of the neurologic symptoms of PV, tinnitus or hearing impairment as a presenting symptom of PV is very rare. We report a patient with polycythemia vera whose first sign and symptom were bilateral tinnitus and hearing loss. Unfortunately, the hearing was not recovered after treatment including aspirin and phlebotomy while blood level returned to near normal range. Submitted : 16 June 2011 Accepted : 7 November 2011 Introduction hearing loss and tinnitus had developed in his right ear. Polycythemia vera (PV) is characterized by an At that time, he visited another hospital for the hearing erythrocytosis variably associated with leukocytosis loss and was treated with some medication on the and thrombocytosis. PV is a rare disease with an impression of idiopathic sudden hearing loss. However, incidence rate of approximately 1.9-2.3 new cases per as his hearing was not recovered and his tinnitus was 100,000/year in Europe and the United States. The aggravated, he quit taking the medication. After 6 incidence of PV is slightly higher in men than women months, tinnitus gradually developed in his left ear and (2.8 vs.
    [Show full text]
  • Hematologic Disorders
    www.downstatesurgery.org Hematologic Disorders Sophia L Fu, MD SUNY Downstate Medical Center, Brooklyn, NY Chief Resident Grand Rounds March 29, 2012 Hematologic Disorderswww.downstatesurgery.org Overview Splenic Peripheral Blood Bone marrow Genetic Disorder Myeloproliferative Hematologic Disorderswww.downstatesurgery.org True or False ??? Therapeutic splenectomy cures the underlying hematologic disorder Hematologic Disorderswww.downstatesurgery.org Goals of Splenectomy Ameliorate the pathologic effects of splenic sequestration and symptomatic splenomegaly Correct the hematologic abnormality Aid in diagnosis and staging Rare www.downstatesurgery.org Autoimmune/Idiopathic Disorders Hematologic Disorderswww.downstatesurgery.org What is the most common indication for splenectomy in the US? A) Felty Syndrome B) Thrombotic Thrombocytopenic Purpura C) Autoimmune Hemolytic Anemia D) Idiopathic Thrombocytopenic Purpura E) Sarcoidosis www.downstatesurgery.org Idiopathic Thrombocytopenic Purpura Hematologic Disorderswww.downstatesurgery.org A 43-year-old man has thrombocytopenia, ecchymoses, and a history of melena. His primary doctor suspects that he might have idiopathic thrombocytopenia purpura (ITP). Which of the following is true about this condition? A It is characterized by a low platelet count, mucosal hemorrhage, normal bone marrow, and an enlarged spleen. B It is caused by splenic overproduction of IgM, which attacks the platelet membrane and causes platelet destruction. C The bone marrow often hypertrophies to counteract the increased platelet destruction. D It affects young men more commonly than women. E Diagnosis requires exclusion of other causes of thrombocytopenia. Hematologic Disorderswww.downstatesurgery.org The patient previously described undergoes a complete work- up and ITP is diagnosed. Which of the following about the treatment of ITP is true? A Platelet transfusions are best given before ligation of the splenic artery.
    [Show full text]
  • Nucleated Red Blood Cell Count in Infants of Women with Well-Controlled Gestational Diabetes Mellitus
    Nucleated Red Blood Cell Count in Infants of Women With Well-controlled Gestational Diabetes Mellitus Tolga ERG‹N 1, Aylin TARCAN 2, Arda LEMBET 1, Süheyla ÇET‹NTAfi 1, Sedat ÇET‹NTAfi 2, Ali HABERAL 1. 1 Baflkent University School of Medicine, Department of Obstetrics & Gynecology, Ankara, Turkey 2 Baflkent University School of Medicine, Department of Pediatrics, Beflevler, Ankara, Turkey Abstract Objective: To compare the absolute number of nucleated red blood cell (NRBC) counts within twelve hours of birth in healthy infants and infants of women with gestational diabetes mellitus (GDM). Methods: We compared absolute NRBC counts in two groups of term infants, appropriate size for gestational age (AGA) infants of women with gestational diabetes (n=20) and AGA infants of nondiabetic women (n=20). To eli- minate confounding variables that could affect absolute NRBC numbers, we excluded infants born to women with hypertension, smoking, alcohol abuse and those with intrapartum fetal heart rate abnormalities, low Apgar scores, hemolysis, blood loss, or chromosomal anomalies. Results: There were no significant differences between two groups regarding maternal age, gravidity, parity, gestati- onal age, newborn gender, cesarean rate, 1st and 5 th minute Apgar scores and birth weight. The absolute NRBC co- unts were significantly higher in the GDM group than the control group (p<0.001). Conclusion: We found higher absolute NRBC counts in infants of women with GDM which is close to the level of chronic hypoxia. This finding suggests that fetuses born to women with GDM were exposed to a relatively hypoxe- mic environment for a time period. Key words: Gestational diabetes mellitus, hypoxia, neonatal nucleated red blood cell Öz e t ‹yi Kontrollü Gestasyonel Diabetes Mellitusta Neonatal Normoblast Say›s› Amaç: Kontrollü gestasyonel diabetes mellituslu kad›nlar›n infantlar› ile sa¤l›kl› kad›nlar›n infantlar›nda ilk on iki saat içinde bak›lan mutlak normoblast (NRBC) say›s›n›n karfl›laflt›r›lmas›.
    [Show full text]
  • Splenectomy in Hematology. Current Practice and New Perspectives
    Haematologica 1999; 84:431-436 decision making and problem solving Splenectomy in hematology. Current practice and new perspectives UMBERTO BACCARANI,* GIOVANNI TERROSU,* ANNIBALE DONINI,* FRANCESCO ZAJA,° FABRIZIO BRESADOLA,* MICHELE BACCARANI° *Chair and Division of Surgery, Department of Surgery, and °Chair and Division of Hematology, Department of Clinical and Morphologic Research, Udine University Hospital and School of Medicine, Udine, Italy ABSTRACT Background and Objective. Progress and changes in or many years splenectomy was the main point the management of blood diseases, in surgery and in of contact between hematology and surgery. videotechnology stimulate a critical reappraisal of FThe indications for splenectomy in hematology splenectomy in hematology. are numerous, from diagnostic and staging purpos- Design and Methods. We have collected information es to splenic rupture due to infarction, from anemia on the current practice of splenectomy in hematol- or thrombocytopenia to leukemia or lymphoma. ogy in Italy and we have reviewed the results of a These indications were generated over different his- new technique of laparoscopic splenectomy (LS). torical periods. Many of them are soundly based on Results. Current splenectomy practice: the current common sense and practice, but rarely on evidence. practice in Italy is to offer splenectomy as front-line Over time the indications for splenectomy in hema- treatment for hereditary spherocytosis and as sec- tology have undergone some changes,1 depending ond-line for idiopathic thrombocytopenic purpura on modifications and progress in the management (ITP) and hemolytic anemia. Splenectomy is also of malignant and non-malignant blood diseases. offered in selected cases of leukemia and lymphoma Major examples are Hodgkin’s disease (HD) and but is going out of practice for hairy cell leukemia hairy cell leukemia (HCL) where new treatment and Hodgkin’s disease.
    [Show full text]
  • Hereditary Spherocytosis Recent Experience and Current Concepts Ofpathophysiology
    Hereditary Spherocytosis Recent Experience and Current Concepts ofPathophysiology ROBERT D. CROOM III, M.D.* CAMPBELL W. MCMILLAN, M.D.t GEORGE F. SHELDON, M.D.* EUGENE P. ORRINGER, M.D.t Hereditary spherocytosis is a clinically heterogeneous, geneti- From the Departments of Surgery,* Pediatrics,t and cally determined red blood cell membrane disorder resulting in Medicine,f The University of North Carolina School of hemolytic anemia. A deficiency of spectrin, the largest and most Medicine and the North Carolina Memorial Hospital, abundant structural protein of the erythrocyte membrane skel- Chapel Hill, North Carolina eton, results in the formation of spherocytes which lack the strength, durability, and flexibility to withstand the stresses of the circulation. Clinical manifestations of the disease are pri- marily dependent on the severity of hemolysis, which additionally The membrane defect resulting in the shortened sur- results in an increased incidence of pigment gallstones. The like- vival of erythrocytes in HS has been found to be a defi- lihood of cholelithiasis is directly related to patient age and is ciency in spectrin, the largest and most abundant struc- uncommon before 10 years of age. Splenectomy is indicated in tural protein of the red cell membrane skeleton.3'4 virtually every patient. When the disease is diagnosed in early childhood, the risk of overwhelming postsplenectomy sepsis Thought to be responsible for the shape, strength, and makes it advisable to delay splenectomy until after 6 years of reversible deformability of the red cell, the membrane age if possible. At the time of splenectomy, it is important to skeleton provides the flexibility and durability necessary identify and remove any accessory spleens.
    [Show full text]
  • Obstetric Nephrology: Lupus and Lupus Nephritis in Pregnancy
    CJASN ePress. Published on August 9, 2012 as doi: 10.2215/CJN.12441211 Obstetric Nephrology: Lupus and Lupus Nephritis in Pregnancy | Todd J. Stanhope,* Wendy M. White,† Kevin G. Moder,‡ Andrew Smyth,§ and Vesna D. Garovic Summary SLE is a multi-organ autoimmune disease that affects women of childbearing age. Renal involvement in the form of either active lupus nephritis (LN) at the time of conception, or a LN new onset or flare during pregnancy increases *Department of the risks of preterm delivery, pre-eclampsia, maternal mortality, fetal/neonatal demise, and intrauterine growth Obstetrics and restriction. Consequently, current recommendations advise that the affected woman achieve a stable remission of her Gynecology, Mayo renal disease for at least 6 months before conception. Hormonal and immune system changes in pregnancy may affect Clinic, Rochester, † disease activity and progression, and published evidence suggests that there is an increased risk for a LN flare during Minnesota; Division of Maternal Fetal pregnancy. The major goal of immunosuppressive therapy in pregnancy is control of disease activity with medications Medicine, Mayo that are relatively safe for a growing fetus. Therefore, the use of mycophenolate mofetil, due to increasing evidence Clinic, Rochester, supporting its teratogenicity, is contraindicated during pregnancy. Worsening proteinuria, which commonly occurs Minnesota; ‡Divisions of Rheumatology and in proteinuric renal diseases toward the end of pregnancy, should be differentiated from a LN flare and/or pre- | eclampsia, a pregnancy-specific condition clinically characterized by hypertension and proteinuria. These consid- Nephrology and Hypertension, erations present challenges that underscore the importance of a multidisciplinary team approach when caring for Department of these patients, including a nephrologist, rheumatologist, and obstetrician who have experience with these pregnancy- Medicine, Mayo related complications.
    [Show full text]
  • Selected Mast Cell Disorder Medical and Scientific References
    The Mastocytosis Society, Inc. Selected References-February, 2017 www.tmsforacure.org SELECTED MAST CELL DISORDER MEDICAL AND SCIENTIFIC REFERENCES FILE DESCRIPTION: This file contains selected references that might be of interest to mast cell disorder patients, their caregivers, physicians or others. Although efforts were made to compile a list of references containing information on a variety of topics related to mast cell disorders and mast cells, this is NOT a complete list of all articles available on these subjects. All references were obtained through searches of the PubMed database (http://www.ncbi.nlm.nih.gov/pubmed/) from the US National Library of Medicine, National Institutes of Health. If abstracts and hyperlinks to PubMed pages were available, they were also included in this file. Additional individually relevant references can be obtained by searching the PubMed database at the link provided above. DISCLAIMER: An effort was made to present a variety of opinions when considering inclusion of a reference for this file. Listing of an article in this file does not imply TMS support of its authors or contents and an article that is not listed in this file does not imply a lack of support of its authors or contents. Patients should consult with their doctors, or, if necessary, mast cell specialists, regarding any questions or concerns related to applicability, accuracy and individual usefulness of information presented in these articles. All references and abstracts in this file were obtained from the PubMed database of the US National Library of Medicine, National Institutes of Health (http://www.ncbi.nlm.nih.gov/pubmed).
    [Show full text]
  • Paroxysmal Nocturnal Haemoglobinuria in Pregnancy
    International Journal of Pregnancy & Child Birth Mini Review Open Access Paroxysmal nocturnal haemoglobinuria in pregnancy Abstract Volume 1 Issue 1 - 2016 Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired clonal pluripotent hematopoietic stem cell disorder, resulting due to a mutation of the phosphatidylinositol Salma AlDallal Department of Senior Hematology Laboratory Specialist, Amiri glycan A (PIG-A) gene. A variety of symptoms are observed in the PNH patients Hospital, Kuwait including anemia, thrombosis, and cytopenias. The disease is markedly contradicting with chronic symptoms thereby requiring supportive therapy including folic acid and Correspondence: Salma AlDallal, Senior Hematology iron replacement, periodical transfusions, and glucocorticoids, and anticoagulation Laboratory Specialist, Amiri Hospital Kuwait City, Kuwait, Tel therapy. A new treatment strategy including inhibition of the terminal complement +965-90981981, Email [email protected] cascade with a monoclonal antibody (eculizumab) has also been discussed. The researches in the past reveal that antibody eculizumab tends to decrease the Received: September 27, 2016 | Published: October 14, 2016 complement-mediated intravascular hemolytic and need for periodical transfusion. It also enhances the quality of life in patients with this rare disorder. Although there rare chances of incidence of PNH during pregnancy, it can lead to major maternofetal complications. Although only a few studies have been done on pregnant patients with PNH, these findings
    [Show full text]
  • The Effect of Disorders and Drugs Which Affect Thrombosis on The
    ISSN: 2643-3966 Sloop et al. Int Arch Cardiovasc Dis 2018, 2:012 Volume 2 | Issue 2 Open Access International Archives of Cardiovascular Diseases RESEARCH ARTICLE Why Atherothrombosis is in Principle a Hematologic Disease: The Effect of Disorders and Drugs which Affect Thrombosis on the De- velopment of Atherosclerotic Plaques Gregory D Sloop1*, Gheorghe Pop2, Joseph J Weidman3 and John A St Cyr4 1 Check for Associate Professor of Pathology, Idaho College of Osteopathic Medicine, Idaho, USA updates 2Clinical Cardiologist, Radboud University Medical Center, Nijmegen, The Netherlands 3Formerly of Thomas Jefferson University, Pennsylvania, USA 4Jacqmar, Minneapolis, Minnesota, USA *Corresponding author: Gregory D Sloop, MD, Associate Professor of Pathology, Idaho College of Osteopathic Medicine, 105 27th St S, Great Falls, MT 59401, 1401 E. Central Dr., Meridian, Idaho, 83642, USA inally proposed by the nineteenth century pathologist Abstract Carl von Rokitansky. In this paper, the authors review The authors hypothesize that thrombosis causes both the the process of thrombus organization and examine the complications of atherosclerosis as well as the underlying lesion, the atherosclerotic plaque. Atherosclerotic plaques evidence that flow abnormalities, hematologic abnor- develop from the organization of mural thrombi. In this process, malities and pharmaceuticals, all of which modify the circulating progenitor cells trapped within the thrombus risk of thrombosis, also affect atherogenesis (Figure 1). differentiate into myofibroblasts which synthesize collagen, The impact on atherogenesis of some of these factors and endothelial cells which form granulation tissue. Eventually, all or most of the thrombus is replaced by collagen. Thus, has not been widely appreciated. Many of these factors conditions and drugs which affect thrombosis also affect the foster atherothrombosis by increasing blood viscosity.
    [Show full text]