guidebook. - Fanconi Anemia Research Fund

Introduction
This edition of guidelines for the care of patients with
Fanconi anemia is the result of a Consensus Conference
held by the Fanconi Anemia Research Fund in Chicago,
Illinois on April 11 and 12, 2008. It is intended as a
complete replacement for earlier versions published in
1999 and 2003. Our audience is physicians who provide
primary care for FA patients, and patients and families
who wish to secure optimal treatment through medical
understanding, consultation and appropriate referral.
These guidelines begin with a comprehensive checklist
for physicians and medical specialists and diagnostic
criteria. Subsequent chapters examine more specific
issues faced by the FA patient. The guidelines conclude
with important psychosocial considerations that bear
upon the well-being of the patient and extended family.
Where possible, the guidelines rely on evidence-based
medicine. Where adequate data are lacking because of
limitations of numbers, time frame or present knowledge,
the consensus of expert opinion underlies the recommendations.
All chapters have been peer-reviewed
and speak to the state of best practices as of the date
of each chapter. To avoid being excessively prescriptive,
the title of this book has been changed deliberately
from “Standards” to “Guidelines.” From the discussions
at the Consensus Conference, the authors realize that
a more robust clinical database must be developed to
gather additional evidence upon which to base recommendations.
FA-related science has advanced significantly in the five
years since the last publication in 2003: