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Hemochromatosis: Genetics, pathopysiology, diagnosis and treatment
GASTROENTEROLOGY 2000;119:1409 –1410
PRINT AND MEDIA REVIEWS Lawrence S. Friedman, M.D. Print and Media Review Editor Gastrointestinal Unit Massachusetts General Hospital Boston, Massachusetts
Hemochromatosis: Genetics, Pathopysiology, Diagnosis and Treatment. By James C. Barton and Crowin Q. Edwards. 600 pp. $215.00. Cambridge University Press, New York, New York, 2000. ISBN 0-5215-9380-8. Hemochromatosis is the most common known autosomal recessive disorder in the white population. When treated early, the full spectrum of complications of iron overload may be prevented, making hemochromatosis one of the most satisfying conditions to diagnose and treat. While phlebotomy remains the mainstay of therapy and physicians may feel confident in their ability to care for patients with hemochromatosis, understanding of the disease has undergone important advances in the past decade. With improved understanding of iron metabolism, complications of iron overload, and, most importantly, identification of the HFE gene, hemochromatosis is a condition that deserves more than a periodic afterthought when a new patient with an elevated iron saturation is identified. This book is described by the editors as a comprehensive clinical reference that may be used as a resource by any clinician caring for patients with hemochromatosis. The text is 600 pages long with 93 authors contributing to 57 chapters in 13 sections. (Drs. Barton and Edwards contributed to 6 and 4 chapters, respectively.) The first main section is comprised of 7 chapters on the genetics of hemochromatosis, with reviews on inheritance, population genetics, HLA associations, and the HFE gene. The next section of 8 chapters is devoted to metal absorption and metabolism in hemochromatosis, iron-binding proteins, ferritin, and iron metabolism. Both these sections provide great detail with historically relevant information and a wealth of current references. Our understanding of the topics discussed in these sections has undergone the greatest expansion in recent years, and these sections alone would earn the text a place on the library shelf of any gastroenterologist. The chapters are well written and concise, and the chapter titles are descriptive, allowing the reader to focus easily on one’s area of interest. The few photomicrographs are of high quality. Although tables and charts are relatively sparse throughout the text, they were generally not missed, except for those devoted to HFE mutations, HLA associations, and allele frequencies. The next 4 sections on diagnostic techniques for iron overload, complications of iron overload, therapy of hemochromatosis, and infections and immunity in hemochromatosis provide the bulk of the text. The 10 chapters on the complications of iron overload, in particular, are the most useful to the practitioner treating patients with the disorder. Individual chapters are devoted to affected organ systems. These chapters provide in-depth descriptions of the current understanding of
the toxicity of iron and its manifestations. The chapters on diabetes mellitus, cardiac abnormalities, and nondiabetic endocrinopathy stand out. There are additional sections on the relationship of hemochromatosis to other iron overload disorders, obligatory chapters on screening and the cost-effectiveness of screening, and an interesting discussion on the societal and ethical issues involved in genetic screening and blood and tissue donation in the setting of this genetic disorder. In a book devoted to a single subject, the depth with which many of the topics are treated is refreshing, and information that generally is not covered in standard textbooks can be found in this text. Bottom Line: This reference text succeeds resoundingly as a comprehensive and current resource for any physician treating patients with disorders of iron overload.
MICHAEL THIIM, M.D. Gastrointestinal Unit Massachusetts General Hospital Boston, Massachusetts Gastritis. Edited by David Y. Graham, Robert Genta, and Michael Dixon. 272 pp. $165.00. Lippincott Williams & Wilkins, Philadelphia, Pennsylvania, 1999. ISBN 0-39751675-4. In this multiauthored text, a panel of 33 international contributors from various disciplines provide a comprehensive and authoritative textbook focused on gastritis. As expected, the main topic is Helicobacter pylori, the pathogen that has revolutionized how we think about and treat gastritis. Also covered are other forms of this condition, including autoimmune, infectious, lymphocytic, granulomatous, and reactive gastritides. The text is organized into 6 sections comprising 20 chapters on anatomy, histology, etiology, H. pylori, gastric neoplasia, and economics. A fifth or more of the text is devoted to H. pylori and its relationship to gastritis, ulcer, and neoplasia. In general, the text is liberally illustrated with extensive photomicrographs, charts, and tables. Compared with most textbooks, the photomicrographs are of top quality; most are reproduced in full color on high-quality glossy stock. Also noteworthy is the extensive use of full-color illustrations that provide overviews of the pathology and pathophysiology of gastritis. Many of the graphics in this text would be admirably suited to use as teaching slides for medical student or postgraduate courses. The chapters on autoimmune gastritis and lymphocytic gastritis that lack color photomicrographs and resort to black and white material seem quite lackluster in comparison to other chapters that are enlivened with superb
PRINT AND MEDIA REVIEWS Lawrence S. Friedman, M.D. Print and Media Review Editor Gastrointestinal Unit Massachusetts General Hospital Boston, Massachusetts
Hemochromatosis: Genetics, Pathopysiology, Diagnosis and Treatment. By James C. Barton and Crowin Q. Edwards. 600 pp. $215.00. Cambridge University Press, New York, New York, 2000. ISBN 0-5215-9380-8. Hemochromatosis is the most common known autosomal recessive disorder in the white population. When treated early, the full spectrum of complications of iron overload may be prevented, making hemochromatosis one of the most satisfying conditions to diagnose and treat. While phlebotomy remains the mainstay of therapy and physicians may feel confident in their ability to care for patients with hemochromatosis, understanding of the disease has undergone important advances in the past decade. With improved understanding of iron metabolism, complications of iron overload, and, most importantly, identification of the HFE gene, hemochromatosis is a condition that deserves more than a periodic afterthought when a new patient with an elevated iron saturation is identified. This book is described by the editors as a comprehensive clinical reference that may be used as a resource by any clinician caring for patients with hemochromatosis. The text is 600 pages long with 93 authors contributing to 57 chapters in 13 sections. (Drs. Barton and Edwards contributed to 6 and 4 chapters, respectively.) The first main section is comprised of 7 chapters on the genetics of hemochromatosis, with reviews on inheritance, population genetics, HLA associations, and the HFE gene. The next section of 8 chapters is devoted to metal absorption and metabolism in hemochromatosis, iron-binding proteins, ferritin, and iron metabolism. Both these sections provide great detail with historically relevant information and a wealth of current references. Our understanding of the topics discussed in these sections has undergone the greatest expansion in recent years, and these sections alone would earn the text a place on the library shelf of any gastroenterologist. The chapters are well written and concise, and the chapter titles are descriptive, allowing the reader to focus easily on one’s area of interest. The few photomicrographs are of high quality. Although tables and charts are relatively sparse throughout the text, they were generally not missed, except for those devoted to HFE mutations, HLA associations, and allele frequencies. The next 4 sections on diagnostic techniques for iron overload, complications of iron overload, therapy of hemochromatosis, and infections and immunity in hemochromatosis provide the bulk of the text. The 10 chapters on the complications of iron overload, in particular, are the most useful to the practitioner treating patients with the disorder. Individual chapters are devoted to affected organ systems. These chapters provide in-depth descriptions of the current understanding of
the toxicity of iron and its manifestations. The chapters on diabetes mellitus, cardiac abnormalities, and nondiabetic endocrinopathy stand out. There are additional sections on the relationship of hemochromatosis to other iron overload disorders, obligatory chapters on screening and the cost-effectiveness of screening, and an interesting discussion on the societal and ethical issues involved in genetic screening and blood and tissue donation in the setting of this genetic disorder. In a book devoted to a single subject, the depth with which many of the topics are treated is refreshing, and information that generally is not covered in standard textbooks can be found in this text. Bottom Line: This reference text succeeds resoundingly as a comprehensive and current resource for any physician treating patients with disorders of iron overload.
MICHAEL THIIM, M.D. Gastrointestinal Unit Massachusetts General Hospital Boston, Massachusetts Gastritis. Edited by David Y. Graham, Robert Genta, and Michael Dixon. 272 pp. $165.00. Lippincott Williams & Wilkins, Philadelphia, Pennsylvania, 1999. ISBN 0-39751675-4. In this multiauthored text, a panel of 33 international contributors from various disciplines provide a comprehensive and authoritative textbook focused on gastritis. As expected, the main topic is Helicobacter pylori, the pathogen that has revolutionized how we think about and treat gastritis. Also covered are other forms of this condition, including autoimmune, infectious, lymphocytic, granulomatous, and reactive gastritides. The text is organized into 6 sections comprising 20 chapters on anatomy, histology, etiology, H. pylori, gastric neoplasia, and economics. A fifth or more of the text is devoted to H. pylori and its relationship to gastritis, ulcer, and neoplasia. In general, the text is liberally illustrated with extensive photomicrographs, charts, and tables. Compared with most textbooks, the photomicrographs are of top quality; most are reproduced in full color on high-quality glossy stock. Also noteworthy is the extensive use of full-color illustrations that provide overviews of the pathology and pathophysiology of gastritis. Many of the graphics in this text would be admirably suited to use as teaching slides for medical student or postgraduate courses. The chapters on autoimmune gastritis and lymphocytic gastritis that lack color photomicrographs and resort to black and white material seem quite lackluster in comparison to other chapters that are enlivened with superb