Index

A Acute splenic sequestration crisis (ASSC), 71 Abnormal chromosomal breakage test, 387 Adenosine deaminase activity (ADA), 372 ABO hemolytic disease, 325 Allo-immune , 116 Acquired aplastic (AAA) Alternative pathway, 489 clinical features, 371 Anemia, 323, 326 definition and classifications, 371 chronic disease, 375, 376 diagnosis and management, 371 congenital dyserythropoietic , 381 etiology and pathogenesis, 371 fanconi anemia, 374, 375 incidence, 370 folic acid deficiency, 380, 381 Acquired disorders of iron deficiency anemia, 377–379 coaguloapathy vitamin B12 deficiency, 379, 380 liver failure, 264 ANKRD26-related thrombocytopenia massive transfusion, 264, 265 (ANKRD26-RT), 143 disseminated intravascular Anticoagulation therapy, 348–350 coagulation, 261–263 Antiphospholipid antibodies (APAs), 273 dysfunction, renal failure, 263 Antithrombin (AT) deficiency, 272 Aplastic anemia (AA) consensus definition, 259 clinical presentation, 393 multiple hematologic diagnosis and severity stratification, manifestations, 259 393, 395 organ injury, 260 differential diagnosis, 393 pathogenesis, 260 eltrombopag, 397 TAMOF, 261 epidemiology, 391 TTP, 261 etiology, 392 Acquired thromboembolic events, 346 hematopoietic stem cell transplant, 398 Acquired von Willebrand Syndrome (AVWS) idiopathic AA, 391 definition, 240 immunosuppressive therapy, 396 diagnosis, 240–242 infection prevention and treatment, 396 management, 242–244 pathophysiology, 392 pathophysiology, 240 transfusion support, 395 Activated partial thromboplastin time Aplastic crisis, 71 (aPTT), 251 Arteriovenous malformation, 476 ACTN1-related thrombocytopenia Atypical hemolytic uremic syndrome (aHUS), (ACTN1-RT), 144 54, 61, 62, 492 Acute chest syndrome (ACS), 71 Autoimmune lymphoproliferative syndrome Acute renal failure (ARF), 73 (ALPS), 164

© Springer Nature Switzerland AG 2021 503 D. M. Kamat, M. Frei-Jones (eds.), Benign Hematologic Disorders in Children, https://doi.org/10.1007/978-3-030-49980-8 504 Index

Autoimmune (AIN), 199, erythropoietin, 434 200, 439 febrile non-hemolytic transfusion Autosomal Dominant Hyper IgE Syndrome reaction, 431 (AD-HIES), 220–222 granulocytes, 428 Autosomal recessive HIES oral iron supplementation, 433 (AR-HIES), 222–223 packed red blood cells, 423, 425 Avascular necrosis (AVN), 75 , 426 replacement donor, 417 screening in donated blood and B methodology, 419 Barth syndrome, 198 set evidence-based guidelines, 432 Basophilia, 210 TACO, 430 Basophilic stippling, 379 TA-GVHD, 432 Bernard-Soulier syndrome (BSS), 157, 345 TRALI, 429 Bilirubin metabolism Breast milk jaundice, 355 breast milk jaundice, 355 Breastfeeding jaundice, 356 breastfeeding jaundice, 356 clinical manifestation, 353 Crigler-Najjar syndrome, 357–359 C Dubin-Johnson syndrome, 359, 360 C3 convertase, 489 Gilbert disease, 356 Capillary malformations (CM), 466 physiologic jaundice, 355 Catheter associated , 277 progressive familial intrahepatic Central venous catheter (CVC), 275 cholestasis, 361, 363 Cerebral sinus venous reticuloendothelial system, 353 (CSVT), 280 Rotor syndrome, 360, 361 Cerebrovascular accident (CVA) Bilirubin UDP-glucuronosyltransferase, 354 or stroke, 72 disorders Chediak-Higashi syndrome (CHS), 224 acute bleeding management, 304, 305 Chronic granulomatous disease diagnosis, 296 (CGD), 215–216 incidence, 296 Chronic idiopathic neutropenia (CIN), 200 long-term management, 305 Chronic neutropenia, 439 medical and family history, 299, 300 Chronic thromboembolic pulmonary physical examination, 299 (CTEPH), 289 platelet function disorders, 304 Classical pathway, 489 secondary iron deficiency, 305, 306 Coagulation testing, 340 , 303–304 Coaguloapathy, 264, 265 Blood transfusion, 330 Cold agglutinin syndrome (CAS), 53 acute hemolytic reaction, 429 Complement dysregulation adverse effects, 428 atypical hemolytic uremic syndrome, 492 allergic reactions, 430 CD59 deficiency, 499 apheresis donation, 418 paroxysmal nocturnal hemoglobinuria, avoidance, 432 496, 499 blood component pneumococcal hemolytic uremic bacterial platelet unit, 420 syndrome, 495, 496 fractionation, 418 treatment considerations, 499, 500 irradiation, 421 Complement factor H (CFH), 492 pathogen inactivation of platelet Complement system unit, 420 alternative pathway, 489 preservation, 418 classical pathway, 489 pre-storage leukoreduction, 419 humoral and cell mediated immune blood donation policy and responses, 487 infrastructure, 417 lectin pathway, 489 Index 505

membrane bound inhibitors, 490 Febrile non-hemolytic transfusion monocytes, macrophages and epithelial reaction, 431 cells, 487 Congenital amegakaryocytic diagnosis, 25 thrombocytopenia (CAMT), 141, etiology, 25 160, 345 incidence, 24 Congenital dyserythropoietic anemias pathophysiology, 24 (CDAs), 381 treatment, 25 Congenital hemangioma, 459 Folic acid deficiency, 380, 381 Conjugated bilirubin, 354 Cooley’s anemia, 94 Crigler-Najjar Syndrome, 357–359 G Gilbert disease clinical presentation, 356 D epidemiology, 356 D1472H polymorphism, 235 management, 357 Deep thrombosis (DVT), 278 pathophysiology, 356 Delayed cord clamping (DCC), 330 Glanzmann thrombasthenia, 147, 157, Desmopressin (DDAVP), 243 158, 345 Developmental anomalies, 477–478 Glucose-6-phosphate dehydrogenase (G6PD) Diamond-Blackfan Anemia (DBA) deficiency, 99–101 clinical features, 372 Glucose-6-phosphate isomerase (GPI) diagnosis and management, 372 deficiency, 102 etiology and pathogenesis, 372 Glycogen storage disease 1b incidence, 371 (GSD 1b), 198 DiGeorge syndrome, 146 Granulocyte function disorder Direct oral (DOACs), 285 AD-HIES, 220–222 Direct thrombin inhibitors (DTIs), 349 AR-HIES, 222, 223 Disseminated intravascular coagulation CGD, 215, 216 (DIC), 261–263 CHS, 224 Drug-induced neutropenia, 201 clinical presentations, 214, 215 Dubin-Johnson syndrome, 359, 360 leukocyte adhesion deficiencies (LAD) Dyskeratosis congenita (DKC), 144, 197 (see Leukocyte adhesion deficiencies (LAD)) neutrophilic dermatoses, 225 E periodontitis syndromes, 226 Eculizumab, 494 SDS, 224 Effort thrombosis, 275 SGD, 224 Eltrombopag, 397 Granulocyte transfusions, 428 Empiric antibacterial therapy, 445 Granulocytosis Enoxaparin, 349 basophilia, 210 Eosinophilia, 208–210 definition, 205 Erythropoietin (EPO), 434 eosinophilia, 208–210 , 57, 116 neutrophilia, 206 absolute count, 205 F acute neutrophilia, 207 (FVL), 273 causes, 206 Fanconi anemia (FA), 144, 196 chronic neutrophilia, 207, 208 clinical features, 375 evaluation and management, 208 diagnosis and management, 375 leukemoid reaction, 208 etiology and pathogenesis, 375 primary neutrophilia, 208 incidence, 374 reactive neutrophilia, 207 506 Index

H treatment, 251–254 Haemophilus influenzae type b (Hib) vaccine, Hereditary elliptocytosis (HE) 407, 409 causes, 108 Heavy menstrual bleeding (HMB), 244 classification, 109 bleeding disorders clinical features, 108 acute bleeding management, 304, 305 prevalence, 108 long-term management, 305 Hereditary hemorrhagic , 481 secondary iron deficiency, 305, 306 Hereditary pyropoikilocytosis etiology, 297 (HPP), 109 incidence, 296 Hereditary spherocytic elliptocytosis initial hematologic evaluation, 301, 302 (HSE), 109 iron deficiency anemia, 302 Hereditary spherocytosis (HS) nonstructural causes, 297 causes, 106 normal menstruation, 296 classification, 106 patient-centric definition, 296 clinical features, 106 Hemangioma, 454 clinical management, 107, 108 Hematopoiesis laboratory features and diagnosis, 107 cell development stages, 3–5 Hereditary stomatocytosis (HSt) cell differentiation pathways, 3 clinical features, 110, 111 cell to cell interactions, 9, 10 clinical management, 111 cytokines, 7 hereditary xerocytosis, 110 definition, 3 laboratory features and diagnosis, 111 next generation sequencing, 3 membrane transport defects, 110 sites of, 5 overhydrated hereditary transcription factors, 6–8 stomatocytosis, 110 Hematopoietic stem cell transplant, 398 Hereditary xerocytosis (HX), 110 Hematuria, 73 High performance liquid chromatography Heme oxygenase, 353 (HPLC), 315 Hemoglobin Constant Spring (HbCS), 94 Hormonal therapy, 278 Hemoglobin electrophoresis, 314 Hyperbilirubinemia, 328, 354 Hemolytic anemia, 73 Hyper-hemolytic crisis, 71 Hemolytic disease of the fetus and Hyperplasia, 454 newborn (HDFN) Hypersplenism, 74, 162 clinical implications, 323 Hyporegenerative thrombocytopenia, 326 fetal evaluation and monitoring, Hyposthenuria, 76 326, 327 natural history of, 326 newborn management, 328–330 I outcomes, 330 Idiopathic aplastic anemia, 391 pathophysiology, 323 Idiopathic Thrombocytopenic , see prevention, 328 Immune thrombocytopenia (ITP) Hemolytic uremic syndrome (HUS), 60 Immune hemolytic anemia Hemophilia in children, 51 classification, 248 laboratory findings, 51 clinical presentation, 250 primary autoimmune hemolytic anemia diagnostic evaluation, 251 CAS, 53 epidemiology, 248, 249 diagnosis of, 52 fitusiran, 256 laboratory evaluation, 52, 53 gene therapy trials, 256 mixed autoimmune hemolytic genetics, 247, 248 anemia, 55 hemophilia A vs. hemophilia B, 248 PCH, 54 inhibitor antibodies, 255, 256 physical examination, 52 pathophysiology, 249, 250 serologic findings, 53 surgical considerations, 254 treatment, 55 target tissue factor pathway inhibitor, 256 warm AIHAs, 53, 54 Index 507

secondary autoimmune hemolytic anemia familial platelet disorder, 145 causes, 56 Fanconi anemia, 144 clinical presentation and laboratory Glanzmann thrombasthenia, 147 results, 57 granule defects, 147, 148 Evans syndrome, 57 laboratory evaluation management, 57, 58 flow cytometry, 140 pediatric studies, 56 light transmission aggregometry, 140 Immune thrombocytopenia (ITP) mean platelet volume, 139 anti-D immunoglobulin functions, 125, 126 platelet function analyzer test, 140 bone marrow aspiration/biopsy, 122 thromboelastography, 140 causes, 115 MYH-9 related Disorders, 145 in childhood, 115 neonatal platelet variation, 137 classification, 116 patient history, 138 clinical evaluation, 120–122 Pearson syndrome, 146 clinical features, 116, 118, 119 platelet anatomy and function, 136, 137 clinical practice guidelines, 115 platelet birth, 135–136 , 125 Pseudo-von Willebrand Disease, 148 etiology and pathogenesis, 117, 118 Schwachmann-Diamond syndrome, 145 intravenous immunoglobulin, 124, 125 TAR, 141, 142 management, 122, 123 WAS, 143 medical interventions, 123 X-linked thrombocytopenia, 143 in neonates, 116 Inherited bone marrow failure observation-only management, 124 syndromes (IBMFS) pathogenesis, 118 clinical features, 386 primary ITP, 116 diagnosis, 386 secondary ITP, 116, 117 etiology, 385 second-line therapies, 126–128 long-term follow-up, 388 , 128, 129 outcome, 388 treatment, 126 signs and symptoms, 386 vaccine induced ITP, 116 treatment, 387, 388 Immune (ITP), 163 Inherited collagen disorders, 299 Immune tolerance induction (ITI) therapy, 255 Intensive phototherapy, 329 Immunosuppressive therapy (IST), 396 International Society for the Study of Vascular Infantile hemangioma, 458, 460 Anomalies (ISSVA), 454 clinical presentation, 457–459 Internet resources, 482 complications of, 459 (ICH), 341 LUMBAR association, 462 Intrauterine intravascular transfusions medical therapies, 464 (IUIVT), 326 non-medical therapies, 464 Intravenous immunoglobulin (IVIG), 329 observation management, 462 Iron deficiency anemia, 302, 377–379 PHACES syndrome, 461 causes, 15 propranolol, 462–464 clinical symptoms and signs, 20, 21 timolol, 464 etiology, 18–20 Inherited and congenital thrombocytopenia intravenous iron therapy, 23 ACTN1-related thrombocytopenia, 144 laboratory testing, 21, 22 amegakaryocytic thrombocytopenia with neurodevelopment, 17 radioulnar synostosis, 142 oral iron therapy, 22, 23 ANKRD26-related thrombocytopenia, 143 pathophysiology, 16, 17 Bernard-Soulier, 146 prevalence, 15, 16 bone marrow failure syndromes, 144 screening, 20 CAMT, 141 and thrombosis and stroke, 17, 18 causes, 135 Iron-refractory iron deficiency anemia clinical evaluation, 137, 139 (IRIDA), 23 DiGeorge syndrome, 146 Isoelectric focusing (IEF), 315 Dyskeratosis congenita, 144 Isoimmune neutropenia, 202 508 Index

J causes, 218 Jacobsen syndrome (JS), 161 clinical presentation, 219 Jaundice, 326 diagnosis and management, 219 epidemiology, 219 LAD-3, 219, 220 K Liver disease, 343 Kaposiform hemangioendothelioma, 467 Liver hematopoiesis, 5 clinical presentation, 457–459 Low molecular weight , 348 , 466 Lucy-Driscoll syndrome, 359 management, 466 Kasabach-Merritt phenomenon (KMP), 466 Kasabach-Merritt syndrome (KMS), 166 M Kernicterus, 353 MAC-inhibitory protein (MAC-IP), 490 Klippel-Trénaunay syndrome, 479, 480 Macrocystic malformation, 473 May-Thurner anomaly, 275 Measle-mumps-rubella (MMR) vaccine, 116 L Microangiopathic hemolytic anemia Lead poisoning, 379 aHUS, 54, 61, 62 adverse effects, 31 causes, 58, 59 chemical factors, 33 hemolytic uremic syndrome, 60 in children shigatoxin-induced hemolytic uremic chelation treatment, 43, 45 syndrome, 61 interventions, 43 thrombotic thrombocytopenic purpura investigation and mitigation of (TTP), 58–60 sources, 40–42 Microcystic lymphatic malformations, 473 laboratory and imaging studies, 39 Mild protein S (PS) deficiency, 272 medical management Minor blood group hemolytic disease, 325 recommendations, 43–44 Mixed autoimmune hemolytic anemia, 55 prevention, 45 Myosin heavy-chain 9-related resilience, 39, 40 thrombocytopenia (MYH9) clinical manifestations, 35 disorders, 162 current and historical uses, 34 dietary factors, 33 environmental sources, 33 N epidemiological triad, 31 National Health and Nutrition Examination in food products, 34 Survey (NHANES), 34 hematological toxicity, 37, 38 Neisseria meningitidis, 410 host factors, 32–33 Neonatal alloimmune thrombocytopenia inorganic lead absorption, 32 (NAIT), 164, 165, 344 investigations in New York City, 34 Neonatal hemostasis minute ventilation, 32 acquired thromboembolic events, 346 neurologic toxicity, 35–37 anticoagulation therapy, 348–350 paints and dust, 34 clinical aspects, 339 regulations, 34 clinical finding, 341 renal toxicity, 38 coagulation factors and thrombin in USA, 34 generation, 335 Lectin pathway, 489 common factor deficiencies, 341 Leukocyte adhesion deficiencies (LAD) fetal and neonatal fibrinolytic LAD-1 system, 339 causes, 217 inherited thrombocytopenia, 344 clinical presentation, 218 liver disease, 343 diagnosis and management, 218 natural inhibitors of coagulation, 338 epidemiology, 218 neonatal thrombotic disorders, 346 LAD-2 platelet function, 337, 345 Index 509

rare factor deficiencies, 342 history of, 313 , 348 interpretation of results, 317, 318 sampling challenges, 340 isoelectric focusing, 315 thrombocytopenia, 343 molecular methods for diagnosis, 315 vitamin K-dependent factors, 336, 337 screening recommendations, 319, 320 von Willebrand factor, 337 Non-immune hemolytic anemia Neonatal thrombotic disorders, 346 diagnosis, 58 Neutropenia, 326 microangiopathic hemolytic anemia (see acquired neutropenias Microangiopathic alloimmune and isoimmune neonatal hemolytic anemia) neutropenia, 201 paroxysmal nocturnal autoimmune neutropenia, 199, 200 hemoglobinuria, 62, 63 chronic idiopathic neutropenia, 200 drug-induced neutropenia, 201 marrow suppression/infection-related O neutropenia, 198, 199 Oral anticoagulants, 349 and nutritional deficiencies, 198 Overhydrated hereditary stomatocytosis antifungal therapy, 446 (OHS), 110 antimicrobial therapy, 445 blood stream infections, 442 clinical evaluation, 192 P clinical examination, 192 Paget-Schroetter anomaly, 275, 276 consultation, 446 PALM-COEIN, 297 empiric antibacterial therapy, 445 Paroxysmal cold hemoglobinuria epidemiology, 191 (PCH), 54 febrile neutropenia, 443 Paroxysmal nocturnal hemoglobinuria (PNH), fungal infections, 442 62, 63, 496, 499 healthy host, 439 Parvovirus infection, 374 immunocompromised hosts, 439 Pathogen-associated molecular patterns infection causes, 438 (PAMPs), 260 infection control and prevention, 446 Pediatric Environmental Health Specialty inherited neutropenias Units (PEHSU), 38 Barth syndrome, 198 Pediatric thrombocytosis clinical features, 194 classification, 176 cyclic neutropenia, 195 definition, 175, 176 diagnosis, 193 diagnostic algorithm, 183, 184 DKC, 197 primary thrombocytosis Fanconi anemi, 196 clinical characteristics, 182, 183 glycogen storage disease 1b, 198 essential thrombocytosis, 180, 181 immunodeficiency, 197 hereditary thrombocytosis, 180 severe congenital neutropenia, 195 molecular characterization, 182 Shwachman-Diamond syndrome, 196 natural history, 183 neutropenic diets, 447 secondary, reactive pathogens of concern, 440 thrombocytosis, 177–179 symptoms, 192 thrombopoietin, 176, 177 vaccination, 202 treatment, 185 viral infections, 442 Pediatric vascular anomalies Newborn screening (NBS) hereditary hemorrhagic telangiectasia, 481 hemoglobinopathy history and physical examination, 454 algorithm, 316 infantile hemangioma, 457–465 genetic counseling, 318, 319 Kaposiform hemoglobin electrophoresis, 314 hemangioendothelioma, 465–466 high performance liquid Klippel-Trénaunay syndrome, 479 chromatography, 315 Sturge-Weber syndrome, 479 510 Index

Physiologic jaundice, 355 (PH), 74 Pica, 21, 32, 39, 74 Pyoderma gangrenosum (PG), 225 Platelet disorders Pyrimidine 5’ nucleotidase deficiency, 103 acquired platelet disorders, 160 Pyruvate kinase (PK) deficiency, 101, 102 clinical features, 153 congenital (inherited)/acquired disorders, 153 Q management of, 168–170 Quantitative immunoglobulins (QUIGs) platelet dysfunction testing, 121 bleeding assessment and screening, 155 laboratory evaluation, 155–157 patient history, 155 R qualitative disorders Rare factor deficiencies, 342 alpha granule defects, 159 RBC metabolism disorder Bernard-Soulier syndrome, 157 G6PD deficiency, 99–101 dense granule defects, 158, 159 glucose-6-phosphate isomerase drug induced platelet dysfunction, 160 deficiency, 102 Glanzmann Thrombasthenia, 157, 158 pyrimidine 5’ nucleotidase deficiency, 103 platelet-type von Willebrand pyruvate kinase deficiency, 101, 102 disease, 158 Reactive neutrophilia, 207 quantitative disorders Recombinant activated factor VIIa ALPS, 164 (rFVIIa), 255 CAMT, 160 membrane defects drug-induced thrombocytopenia, 165 clinical management, 109 hypersplenism, 162 hemolytic anemia, 105 hypothermia, 163 hereditary elliptocytosis, 108, 109 ITP, 163 hereditary spherocytosis, 106–108 Jacobsen syndrome, 161 hereditary stomatocytosis, 110–112 KMS, 166 laboratory features and diagnosis, 109 MYH9 disorders, 162 membrane structural defects, 105 NAIT, 164, 165 membrane transport function defects, 105 spurious thrombocytopenia, 162 signs and symptoms, 105 TAR syndrome, 161 Renal vein thrombosis (RVT), 348 thrombocytosis, 167, 168 Reticular Dysgenesis, 197 thrombotic microangiopathic disease, Rotor syndrome, 360, 361 165, 166 WAS, 161 quantitative versus qualitative S abnormalities, 153 Schwachmann-Diamond Syndrome, 145 Platelet function disorders (PFD), 304 Sepsis, 70 Platelets, 337 consensus definition, 259 Polycystic ovarian syndrome (PCOS), 300 multiple hematologic manifestations, 259 Post thrombotic syndrome (PTS), 288 organ injury, 260 Priapism, 72 pathogenesis, 260 Primary lymphedema, 475 Severe congenital neutropenia (SCN), 195 Progressive familial intrahepatic cholestasis Shiga Toxin E coli hemolytic uremic (PFIC), 361, 363 syndrome (STEC HUS), 490 Prophylaxis, 387 Shigatoxin-induced hemolytic uremic Propranolol, 462–464 syndrome, 61 Protein C (PC) deficiency, 271 Shwachman-Diamond syndrome (SDS), Prothrombin gene mutation (PTm), 273 196, 224 Pseudo-von Willebrand Disease Sickle cell disease (SCD) (pseudo-­vWD), 148 acute complications Pulmonary (PE), 279 acute chest syndrome, 71 Index 511

acute ocular conditions, 73 lymphatic malformation acute renal failure, 73 common (cystic) lymphatic aplastic crisis, 71 malformation, 472, 474 ASSC, 71 lymphedema, 474, 475 cerebrovascular accident/stroke, 72 multisystem disorders, 476 hematuria, 73 venous malformations, 468–472 hepatobiliary disease, 73 Sleep disordered breathing (SDB), 74 hyper-hemolytic crisis, 71 Southeast Asian ovalocytosis (SAO), 109 priapism, 72 Specific granule deficiency (SGD), 224 sepsis, 70, 71 Spurious thrombocytopenia, 162 vaso-occlusive crisis/acute painful Sturge-Weber syndrome, 479 crisis, 69 Superior vena cava (SVC) syndrome, 279–280 chronic complications Superior vena cava thrombosis, 280 avascular necrosis, 75 Sweet’s syndrome, 225 hemolytic anemia, 73 Systemic erythematosus (SLE), 240 hypersplenism, 74 neurological sequelae, 75, 76 nocturnal enuresis, 74 T pica, 74 Target tissue factor pathway inhibitor pulmonary hypertension, 74 (TFPI), 256 reproductive and endocrine issues, 76 Thalassemia SCR, 75 allogeneic hematopoietic stem cell sickle cell cardiomyopathy, 76 transplant, 95 sickle cell nephropathy, 76 alpha thalassemia, 91–94 sleep disordered breathing, 74 beta thalassemia, 91, 94 venous stasis ulcers, 75 deferoxamine, 95 clinical manifestations, 67–70 gene therapy, 96, 97 clinical subtypes, 68 iron chelation therapy, 94 clinical surveillance guidelines, 78 pharmacological advances, 96 diagnosis, 77 treatment strategies, 91 effect of polymerization, 66 Thoracic outlet syndrome, 275 epidemiology, 65 Thrombocytopenia-associated multiple organ gene therapy, 84 failure (TAMOF), 261 genetic abnormality, 66 Thrombocytopenia with absent radii (TAR) hydroxyurea, 81, 82 syndrome, 141, 142, 161, 345 hypercoagulability, 67 Thrombocytopenic thrombotic purpura immune dysfunction, 405, 406 (TTP), 261 , 67 Thrombolysis, 287 medications, 82, 83 Thrombolytic therapy, 286, 350 multi-factorial process, 66 oxidative stress, 66 acquired/inflammatory markers, 273–274 sickle cell trait, 68, 69 anatomic abnormalities, 274 steam cell transplant, 83 antithrombin deficiency, 272 supportive therapy, 80, 81 central venous catheter, 275 vaccination chronic diseases, 277 haemophilus influenzae type b vaccine, factor VIII level, 274 407, 409 lipoprotein (a) levels, 274 neisseria meningitidis, 410 mild , 272 schedule, 408–409 prolonged hospital stays and ICU streptococcus pneumoniae, 411, 412 admissions, 276 Sickle cell retinopathy (SCR), 75 protein C (PC) deficiency, 271 Simple vascular malformations qualitative genetic mutations, 273 arteriovenous malformation, 476 Thrombotic (TMA), 165, capillary malformations, 466 166, 492, 493 512 Index

Thrombotic thrombocytopenic purpura (TTP), risk factors, 271 58–60, 165, 166, 491 superior vena cava syndrome, 279–280 Tissue plasminogen activator (TPA), 350 thrombophilia Transient erythroblastopenia of acquired/inflammatory childhood (TEC) markers, 273–274 clinical features, 373 anatomic abnormalities, 274 etiology and pathogenesis, 373 antithrombin deficiency, 272 incidence, 373 central venous catheter, 275 chronic diseases, 277 factor VIII level, 274 U lipoprotein (a) levels, 274 Unfractionated heparin (UFH), 283, 348, 349 mild protein S (PS) deficiency, 272 Uridine diphosphate glucuronosyl transferase prolonged hospital stays and ICU 1A1 (UGT1A1), 353 admissions, 276 protein C (PC) deficiency, 271 treatment, 283 V Vitamin B12 deficiency, 379, 380 Vascular anomalies, 455 diagnosis, 27 in children (see Pediatric vascular etiology, 26, 27 anomalies) pathophysiology, 26 definition, 453 prevalence, 26 vascular tumors, 454 signs and symptoms, 27 Vascular malformations, 477–478 treatment, 28 Vaso-occlusive crisis (VOC) or acute painful Vitamin K antagonist therapy, 285 crisis, 69 von Willebrand disease (VWD), 298, 303–304 Venous malformation, 469, 470 acquired Von Willebrand syndrome Venous stasis ulcers, 75 definition, 240 Venous thromboembolism (VTE) diagnosis, 240–242 cerebral sinus , 280 management, 242–244 chronic thromboembolic pulmonary pathophysiology, 240 hypertension, 289 classification, 235–238 CVC related VTE, 280 clinical features, 238, 239 , 278 functions, 233 definition, 269 genetics, 235 epidemiology, 269 prevalence, 233 evaluation propeptide, 234 imaging modalities, 282, 283 structure, 233, 234 laboratory, 281, 282 von Willebrand factor (vWF), 337 family history, 271 Von Willebrand factor multimers hormonal therapy, 278 analysis, 242 medications VWF antigen (VWF:Ag), 241 direct oral anticoagulants, 285 VWF:GPIb binding activity assay, 241 fondaparinux, 286 VWF ristocetin cofactor activity IV anticoagulants, 285 (VWF:RCo), 241 LMWH, 285 thrombolysis, 286 unfractionated heparin, 283 W vitamin K antagonist therapy, 285 Warm autoimmune hemolytic anemia mortality rates, 289 (AIHA), 53, 54 pathophysiology, 270 Wiskott-Aldrich syndrome (WAS), 143, personal history, 270 161, 344 post thrombotic syndrome, 288 prevention, 286, 288 , 279 X recurrence, 288 X-linked thrombocytopenia (XLT), 143