Familial Mediterranean Fever

  • Marco Gattorno

Part of the Rare Diseases of the Immune System book series (RDIS, volume 3)

Table of contents

  1. Front Matter
    Pages i-vii
  2. Guillaume Sarrabay, Isabelle Touitou
    Pages 1-12
  3. Jae Jin Chae, Daniel L. Kastner
    Pages 13-30
  4. Tilmann Kallinich, Nuray Aktay, Seza Ozen
    Pages 31-45
  5. Ilan Ben-Zvi, Merav Lidar, Eitan Giat, Olga Kukuy, Yaron Zafrir, Chagai Grossman et al.
    Pages 47-80
  6. Lucia Cerrito, Ludovico Luca Sicignano, Elena Verrecchia, Raffaele Manna
    Pages 81-90
  7. Huri Özdoğan, Serdal Uğurlu
    Pages 137-157
  8. Back Matter
    Pages 159-162

About this book


This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic autoinflammatory disease. The opening chapters explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies. A large part of the book is then devoted to a detailed description of the typical and atypical clinical presentations, the disease course, and potential complications in both pediatric and adult patients. Guidance is provided on the measurement of disease severity and the management of patients in daily practice. The advice regarding treatment is based on the best currently available evidence and attention is also paid to important emerging treatments.

The book is part of Springer’s series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. Monogenic autoinflammatory diseases are hereditary disorders that are caused by single-gene defects in innate immune regulatory pathways and are characterized by a clinical and biological inflammatory syndrome in which there is limited, if any, evidence of autoimmunity. Familial Mediterranean fever itself is due to a mutation in the MEFV gene, which codes for the protein pyrin; it is characterized by periodic fever and episodes of painful inflammation in the abdomen, chest, and joints. Familial Mediterranean Fever will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with the disease.


Colchicine IL-1 MEFV/pyrin Monogenic autoinflammatory disease Periodic fever

Editors and affiliations

  • Marco Gattorno
    • 1
  1. 1.II Paediatric Unit-RheumatologyG. Gaslini InstituteGenovaItaly

Bibliographic information

  • DOI
  • Copyright Information Springer International Publishing Switzerland 2015
  • Publisher Name Springer, Cham
  • eBook Packages Medicine Medicine (R0)
  • Print ISBN 978-3-319-14614-0
  • Online ISBN 978-3-319-14615-7
  • Series Print ISSN 2282-6505
  • Series Online ISSN 2283-6403
  • Buy this book on publisher's site