BookAnnamaria Colao, Marie-Lise Jaffrain-Rea, Albert Beckers, editors.
Summary: This comprehensive reference book is meant to support clinicians in the diagnosis and treatment of polyendocrine diseases and endocrine neoplastic syndromes. Although a large majority of endocrine diseases present as sporadic cases, an increasing proportion can be identified as part of a polyendocrine or systemic syndrome. These include autoimmune endocrine diseases, which may be part of autoimmune polyendocrine disorders (APS) or rare complex disorders such as POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes) or IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndromes. On the other hand, endocrine tumors may develop in a variety of clinical conditions, including multiple endocrine neoplasia (MEN) syndromes, syndromic diseases such as McCune Albright or Carneys complex, or peculiar familial associations such as pheochromocytoma/paraganglioma syndromes. The book discusses the significant advances that have been made in the clinical and genetic characterization of such entities, with major implications in terms of diagnosis and clinical management - with special attention to emerging syndromes, familial screening , multidisciplinarity and multimodal treatment. This volume is intended for clinicians, residents, specialists and physicians involved in the diagnosis and treatment of affected patients, including specialists in endocrinology, internal medicine, oncology , genetics and imaging.
Contents:
Intro
Series Preface
Volume Preface
Contents
About the Editors
Contributors
Part I: Polyendocrine Disorders in Autoimmune and Systemic Diseases
1 Autoimmune Polyendocrine Syndromes (APS) or Multiple Autoimmune Syndromes (MAS)
Introduction
Criteria for the Diagnosis of Autoimmune Diseases
Classification of Autoimmune Diseases
Natural History of Autoimmune Diseases
Old Classification of APS
New Classifications of APS/MAS
Hypothesis on the Pathogenesis of APS/MAS
APS/MAS-1
Historical Features
Frequency and Epidemiology Animal Models of APS/MAS-1
Genetics of APS/MAS-1
Main Clinical Manifestations of APS/MAS-1
Chronic Mucocutaneous Candidiasis (CMC)
Chronic Hypoparathyroidism (CH)
Autoimmune Addisonś Disease (AAD)
Minor Autoimmune Diseases
Premature Ovarian Failure (POF)
Autoimmune Gastritis (AG)
Auto-Immune Thyroid Diseases (AITD)
Type 1 Diabetes Mellitus (DM-1)
Alopecia Areata (AA)
Vitiligo
Autoimmune Hepatitis (AH)
Autoimmune Enteropathy (AE)
Splenic Atrophy (SA)
Pituitary Failure (PF)
Renal Diseases
Pulmonary Diseases (PD) Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
Vasculitis
Ectodermal Dystrophy
Cancer
Other Rare Diseases
Total Number of Diseases in the Italian Cohort of APS/MAS-1
Diseases of APS/MAS-1 and Related Autoantibodies
New Diagnostic Criteria for APS/MAS-1
How to Manage Patients with ASP/MAS-1
When to Investigate for AIRE Gene Mutations
Therapy
APS/MAS-2
Historical Features
Animal Models
Genetics of APS/MAS-2
Frequency and Epidemiology of APS/MAS-2
Main Clinical Manifestations of APS/MAS-2
Autoimmune Addisonś Disease (AAD) Autoimmune Thyroid Diseases (AITD)
Type 1 Diabetes Mellitus (DM-I)
Combinations of the Three Major Diseases
Incomplete or Subclinical Forms of APS/MAS-2
Minor Autoimmune Diseases
Premature Ovarian Failure (POF)
Autoimmune Gastritis (AG)
Vitiligo
Alopecia
Celiac Disease
Other Autoimmune Diseases
Autoimmune Diseases and Autoantibodies in APS/MAS-2
Therapy
APS/MAS-3
General Considerations
Frequency of APS/MAS-3
A New Classification of APS/MAS-3
Genetics of APS/MAS-3
APS/MAS 3A: Association Between AITD and Other Autoimmune Endocrine Diseases AITD and DM-1
AITD and Hirataś Disease (HD)
AITD and Hypergonadotropic Hypogonadism (HH)
AITD and Lymphocytic Adenohypophysitis (LAH)
AITD and Lymphocytic Neurohypophysitis (LNH)
AITD and Chronic Hypoparathyroidism (CH)
AITD and Lymphocytic Mastopathy
Incomplete APS/MAS 3A
APS/MAS-3B: Association Between AITD and Other Autoimmune Diseases of the Digestive System
AITD and Autoimmune Gastritis (AG)
AITD and Pernicious Anemia (PA)
AITD and Celiac Disease (CD)
AITD and Autoimmune Hepatitis (AH)
AITD and Primary Biliary Cholangitis (PBC)