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MarcelloCiaccio
Editor
Clinical and
Laboratory Medicine
Textbook
123

Clinical and Laboratory Medicine Textbook

Marcello Ciaccio
Editor
Clinical and Laboratory
Medicine Textbook

Editor
Marcello Ciaccio
School of Medicine and Surgery
University of Palermo
Palermo, Italy
ISBN 978-3-031-24957-0 ISBN 978-3-031-24958-7 (eBook)
https://doi.org/10.1007/978-3-031-24958-7
The translation was done with the help of articial intelligence (machine translation by the service DeepL.com). A
subsequent human revision was done primarily in terms of content.
Translation from the Italian language edition: Trattato di biochimica clinica e medicina di laboratorio. © EDISES
Edizioni 2021. All Rights Reserved.
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2023
This work is subject to copyright. All rights are solely and exclusively licensed by the Publisher, whether the whole or
part of the material is concerned, specically the rights of reprinting, reuse of illustrations, recitation, broadcasting,
reproduction on microlms 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 specic 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,
expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been
made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional afliations.
This Springer imprint is published by the registered company Springer Nature Switzerland AG
The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland

To Anna Maria,
https://t.me/medicina_free
with great love.
Your father

Foreword
https://t.me/medicina_free
The COVID-19 pandemic, with requirements for social distancing, has accelerated the development of novel teaching methodologies in medical schools. Several medical specialties,
including laboratory medicine, have decided to employ novel teaching methodologies such as
the use of telemedicine, remote teaching, online curricula, virtual rotations, virtual conferences, simulations, and learning consortia. Traditional teaching methodologies, therefore, are
challenged by innovative proposals, but I strongly believe that medical textbooks should still
be considered one of the fundamental sources of medical information. This is particularly true
for laboratory medicine, one of the youngest medical disciplines, as the number, type, and
complexity of laboratory testing have increased markedly during the past 50years, and healthcare providers increasingly rely on laboratory tests to make diagnoses, assess the efcacy of
therapy (or even to predict the outcome of therapy), and follow the natural progression of diseases. In addition, innovative biomarkers and the adoption of “omics” are increasingly used for
more personalized medicine, wellness promotion, and disease prevention. This is the rst reason for accepting the invitation to write a foreword to the textbook by Marcello Ciaccio
Clinical and Laboratory Medicine Textbook.
The second reason is that this textbook fully recognizes the development of laboratory medicine and its evolution over the past decades. Today, laboratory medicine is a highly complex set
of medical subdisciplines that span the breadth of diagnostic testing needed to support all health
care. It includes clinical biochemistry, hematology and hemopathology, coagulation, medical
microbiology and virology, molecular pathology and genetics, and transfusion medicine. More
recently, the integration between pathology and laboratory medicine, known by the acronym
“PALM”, has been proposed to ensure a holistic approach to diagnostic testing. PALM services,
infact, are cross-cutting, intersectoral, and provide the foundation for safe, effective, and equitable healthcare delivery, population health, and global health security. Until a few years ago,
medical education on laboratory testing was found to be inadequate in Italy, as well as in many
other countries including the United States. Despite the integral role of laboratory testing in the
practice of medicine, formal teaching of laboratory medicine was a relatively neglected component of the medical school curriculum, and for many years, successive editions of traditional
textbooks did not reect the changing paradigm of the discipline. Most textbooks, infact,
focused on only the methodological aspects of laboratory tests, omitting fundamental requirements of the extra-analytical phases. In particular, medical students should be trained to appropriately request laboratory tests, as well as to correctly interpret and use laboratory information.
Infact, physicians, who use clinical laboratory services, need to be familiar with their role in
ensuring quality test results through appropriate test selection, interpretation, and clinical action.
This should be recognized as a fundamental issue in teaching laboratory medicine in medical
schools and this textbook fully recognizes this strategic aspect of medical education in laboratory medicine. By selecting the appropriate tests and interpreting the results correctly, medical
students and physicians using this book should be able to optimize patient outcomes and reduce
the cost of achieving a diagnosis. Most chapters begin with a brief description of the disorder/
medical condition followed by a discussion that includes sentences, tables, and gures detailing
the laboratory evaluation of specic disorders, and coverage of diagnosis and baseline tests to
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exclude diagnostic possibilities and clinical indications that warrant further screening and special testing. Obviously, the methodological aspects are included and represent the fundamental
information to link clinical needs, analytical performance specications, and diagnostic
accuracy.
The third reason which highlights the value of the textbook is the faculty, as the chapters
have been prepared and written by true experts, thus allowing an effective “evidence-based”
approach which, in turn, assures an updated, reliable, and accurate handling of the matter. In
an interconnected and integrated medicine, laboratory information plays an increasingly
dominant role, but medical student knowledge should be improved to allow future physicians to manage the high complexity of the current test menu, to more appropriately require
laboratory tests, to interpret better and use laboratory information, and to integrate it into the
right clinical context. An in-depth knowledge of laboratory medicine principles is vital to all
practicing physicians. Great variation exists in the ways that medical students learn the principles of laboratory medicine: to ensure that important principles are addressed, medical
schools should establish goals and objectives specically related to laboratory medicine and
experiment with optimal teaching and assessment methods. Medical students should understand the differences in interpretation that different settings require and that laboratory tests
must be interpreted in conjunction with the entire clinical presentation. They should be able
to order not only all of the tests necessary in a particular clinical setting but also only the
tests that are medically useful for their patients. They should know their limitations of
knowledge in this area and how to seek appropriate consultation from clinical pathologists,
clinical scientists, midlevel provider laboratory personnel, and other subspecialists to maximize appropriate patient care. They should understand the scientic underpinnings of laboratory medicine, for the purpose of proper use of current testing and also to be able to assess
future modalities wisely. They should also understand the therapeutic modalities available
from the clinical laboratory, such as the appropriate use of blood products, cell therapy, and
other individualized patient treatments, and understand the cost-effective, evidence-based
use of the treatments. Structured classroom teaching, even in an era of novel methodologies,
still represents an effective approach to transfering knowledge to medical students through
the guidance of a mentor who must be an expert, highly skilled in laboratory medicine.
However, even the best mentor cannot provide a series of lessons comprehensive of the
increasingly complex and huge number of laboratory tests. Medical students, however,
should be allowed to know and understand the complexity of current laboratory testing: they
need to look up a textbook!
A valuable and updated textbook, such as the textbook by Marcello Ciaccio is, therefore, an
invaluable and irreplaceable tool to provide an accurate teaching of laboratory medicine in
medical schools. The textbook should not substitute ex cathedra lecturers, nor ward rounds to
discuss clinical cases and practical laboratory training in the interpretation of peripheral blood
smears and microscopic examination of urine sediment. It should be a source of valuable information for covering the aspects of laboratory testing not treated during the course of study and/
or in-depth self-directed learning.
Foreword
MarioPlebani
Padua, Italy
Galveston, TX, USA

Foreword
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References
Plebani M (2016) Towards a new paradigm in laboratory medicine: the ve rights. Clin Chem Lab Med
54:1881–1891
Smith BR, Aguero-Rosenfeld M, Anastasi J, Baron B, Berg A, Bock JL et al (2010) Academy of Clinical
Laboratory Physicians and Scientists. Educating medical students in laboratory medicine: a proposed curriculum. Am J Clin Pathol 133:533–542.
Wilson ML, Fleming KA, Kuti MA, Looi LM, Lago N, Ru K (2018) Access to pathology and laboratory medi-
cine services: a crucial gap. Lancet. 391:1927–1938.

Preface
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Laboratory Medicine is a highly dynamic discipline which has undergone a signicant evolution and revolution over the years. Technological innovation represents the leitmotif of change,
characterized not only by the introduction of methods with high analytical performance but
also by a mature consideration of the value and signicance of Laboratory Medicine. The latter
has undergone an essential transition from an essentialist vision, focused exclusively on the
analytical aspect, to a holistic vision centered on the patient. The common goal of Laboratory
Medicine and Clinical Medicine is to improve patient outcomes. Although Laboratory
Medicine is a “faceless” discipline, it has a central role in the Health System as it is an integral
and integrated part of clinical-care pathways, from screening to diagnosis to prognosis and
therapy monitoring.
In the future, the Clinical Laboratory will acquire an increasingly central role in the panorama of Clinical Medicine, guiding its change from a generalized conception of health and
disease to an individualized approach, which involves decisions and interventions tailored to
the individual patient, based on the answers.
In the past, medicine was practiced according to the signs and symptoms presented by the
patient and was based exclusively on the individual knowledge of the physician. Currently,
medicine is based on evidence produced by scientic research, including clinical studies,
known as evidence-based medicine. In the near future, medicine will be adapted to the individual patient. Indeed, advances in science and technology, as well as the development of
“Omics Sciences”, have led to a signicant increase in knowledge of the pathophysiology of
many diseases. Understanding the differences associated with disease at different levels,
including genome, transcriptome, proteome, and metabolome, is the basis for developing
Precision Medicine. In this context, Laboratory Medicine plays a leading role by providing a
large panel of genetic, epigenetic, and circulating biomarkers, which allow for dening the
molecular prole of an individual in order to obtain a “personal” description of the state of
health.
The Clinical and Laboratory Medicine Textbook is translated from the Italian Text Trattato
di Biochimica Clinica e Medicina di Laboratorio, which has a huge spread in Italy. Indeed, it
represents an innovative text on Clinical and Laboratory Medicine because each topic is presented exhaustively, from the explanation of the pathophysiological mechanisms, with a particular focus on the biochemical-clinical characteristics, to the description of the main clinical
pictures, highlighting the importance of the role of Laboratory Medicine and providing the
tools for the correct use and interpretation of laboratory data, according to the most recent
guidelines and scientic evidence.
In particular, diseases with a high incidence in the population, such as diabetes mellitus,
cardiovascular diseases, dyslipidemias, and autoimmune diseases, and rarer diseases, such as
hereditary metabolic diseases, are described. In addition, there are original topics, such as
clinical biochemistry of the mind, and topics of great relevance, such as biological drugs, bio-
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banks, health technology assessment, and omics sciences. Finally, a chapter is dedicated to the
COVID-19 pandemic.
The textbook is aimed at all Medical Science professionals who wish to have a broad, complete, and in-depth knowledge of Clinical Biochemistry and Laboratory Medicine and who
wish to deepen specic aspects of the Clinical Laboratory and update themselves on technological and biotechnological advances in the medical eld.
Palermo, Italy MarcelloCiaccio
Preface
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