Medical and Surgical Complications of Sickle Cell Anemia

Transcription

1 Medical and Surgical Complications of Sickle Cell Anemia

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3 Ahmed Al-Salem Medical and Surgical Complications of Sickle Cell Anemia

4 Ahmed Al-Salem Department of Surgery Dar A lalafia Medical Company Qatif Saudi Arabia ISBN DOI / ISBN (ebook) Library of Congress Control Number: Springer Cham Heidelberg New York Dordrecht London Springer International Publishing Switzerland 2016 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper Springer International Publishing AG Switzerland is part of Springer Science+Business Media (

5 Preface Sickle cell anemia is one of the common hemoglobinopathies in the world and it results from a single change of amino acid, valine instead of glutamic acid at the 6th position of the 146 amino acids of the beta chain of the hemoglobin. A single change of one amino acid can lead to so much morbidity and mortality. Sickle cell anemia can affect every part of the body leading to so much morbidity and mortality. Awareness of sickle cell anemia and its complications is important for early diagnosis and management, taking into consideration the recent advances in the management of sickle cell anemia including the use of hydroxyurea, bone marrow transplantation, and the promising gene therapy. This book is written as an outline of sickle cell anemia and its medical and surgical complications. It is written in a simple way and easy to read. It covers most aspects of sickle cell anemia with emphasis on the medical and surgical complications of sickle cell anemia and the most important points relevant to the patient s presentation, diagnosis, and management. This book is well illustrated and includes clinical, operative, radiological, histopathological, and hand-drawn illustrations. I hope this book will be useful to consultant pediatricians, consultant internists, consultant hematologists, specialists, fellows, and residents. The book should be useful also to general practitioners, general surgeons, accident and emergency doctors, trainees, medical students, and nurses. Qatif, Saudi Arabia Ahmed H. Al-Salem v

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7 Acknowledgment I would like to express special thanks of gratitude to my family who supported me and made this project possible. I would also like to thank all my colleagues who reviewed chapters of this book. vii

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9 Contents 1 History of Sickle Cell Anemia Further Readings Genetics and Pathophysiology of Sickle Cell Anemia Introduction Risk of Inheritance Sickle Cell Trait Pathophysiology of Sickle Cell Anemia Further Readings Variants of Sickle Cell Anemia Introduction Normal Hemoglobins Abnormal Hemoglobins Sickle Syndromes The Alpha Thalassemia (α-thalassemia) Syndromes Sickle Alpha Thalassemia The Sickle Beta-Thalassemia Syndromes Sickle-Hereditary Persistence of Fetal Hb Sickle-HbD Disease Sickle-HbO Arab Disease Sickle-HbE Disease Further Readings Clinical Features of Sickle Cell Anemia Introduction Epidemiology Clinical Manifestations Investigations of Patients with Sickle Cell Anemia Management Prognosis Further Readings ix

10 x Contents 5 The Spleen and Sickle Cell Anemia Introduction Embryology Functions of the Spleen Post-splenectomy Complications Immunizations and Splenectomy Splenic Complications of Sickle Cell Anemia Acute Splenic Sequestration Crisis Hypersplenism Splenic Abscess Massive Splenic Infarction Partial Splenectomy Laparoscopic Splenectomy Perioperative Management of Children with SCA Overwhelming Post-splenectomy Infection (OPSI) Further Reading Hepatobiliary Complications of Sickle Cell Anemia Introduction Cholelithiasis Presentation Diagnosis Treatment Choledocholithiasis Biliary Sludge Sickle Cell Cholangiopathy Pancreatitis Sickle Cell Hepatopathy Acute Sickle Cell Hepatic Crisis Hepatic Sequestration Crisis Acute Sickle Cell Intrahepatic Cholestasis Hepatitis B and C Further Reading The Acute Chest Syndrome in Sickle Cell Anemia Introduction Etiology Investigations and Diagnosis Complications of ACS Management Further Reading Musculoskeletal Manifestations of Sickle Cell Anemia Introduction Acute Vaso-occlusive Crisis Osteomyelitis and Septic Arthritis

11 Contents xi 8.4 Avascular Necrosis Osteopenia and Osteoporosis Abnormal Growth and Development Soft Tissue Abnormalities Further Reading Gastrointestinal Complications of Sickle Cell Anemia Introduction Abdominal Vaso-Occlusive Crisis Peptic Ulcer Disease Acute Pancreatitis Ischemic Colitis Further Reading Leg Ulcers in Patients with Sickle Cell Anemia Introduction Pathogenesis Classification Treatment Further Reading The Hand-Foot Syndrome in Patients with Sickle Cell Anemia Introduction Etiology Radiological and Laboratory Findings Management Further Reading Acute Appendicitis and Sickle Cell Anemia Introduction Pathology Further Reading Ophthalmologic Manifestations of Sickle Cell Anemia Introduction Management Perioperative Management Further Reading Cardiovascular Complications of Sickle Cell Anemia Introduction Pulmonary Artery Hypertension (PAH) Pathophysiology of PAH Clinical Features of PAH Investigations of PAH Treatment of SCA-Related PAH Cardiac Complications

12 xii Contents 14.8 Peripheral Vascular Disease in Patients with Sickle Cell Anemia Further Reading Cerebrovascular Complications of Sickle Cell Anemia Introduction Incidence Mechanism of Stroke in Sickle Cell Anemia Treatment of Stroke Preventive Measures Investigations Cerebral Infarction Acute Stroke Management Prevention of Recurrent Stroke Intracranial Hemorrhage Subarachnoid Hemorrhage Intraventricular Hemorrhage Moyamoya Syndrome Epidural Hematoma Further Reading Renal Complications of Sickle Cell Anemia Introduction Pathophysiology Pathogenesis Renal Manifestations of SCA Investigations Treatment Further Reading Priapism and Sickle Cell Anemia Introduction Classification Pathophysiology of Priapism Clinical Features Treatment of Priapism Complications of Priapism Further Reading Perioperative Management of Patients with Sickle Cell Anemia Further Reading Recent Advances in the Treatment of Sickle Cell Anemia Introduction Hydroxyurea Blood Transfusion Bone Marrow or Stem Cell Transplantation

13 Contents xiii 19.5 Gene Therapy Family Counseling Further Reading Blood Transfusion Therapy for Patients with Sickle Cell Anemia Introduction Indications for Blood Transfusion Indications for Episodic Blood Transfusion Chronic Blood Transfusion Therapy Controversial Indication for Blood Transfusions Recommendations for Blood Transfusion Transfusion Precautions Types of Blood Transfusions Methods of Blood Transfusion Blood Transfusion Complications Further Reading Hydroxyurea Treatment for Sickle Cell Anemia Introduction Hydroxyurea Mechanism of Action Indications for Hydroxyurea Treatment Evaluation and Investigations Monitoring of Patients Withdrawal of Hydroxyurea Treatment and Dosage Benefits of Hydroxyurea for Patients with Sickle Cell Anemia Side Effects of Hydroxyurea Further Reading Hematopoietic Stem Cell Transplantation for Patients with Sickle Cell Anemia Introduction History of Bone Marrow Transplantation Selection Criteria and Indications for Hematopoietic Stem Cell Transplantation Outcome of Bone Marrow Transplantation Transplantation from Alternative Sources of Stem Cells Further Reading