Familial cold autoinflammatory syndrome (FCAS) is a rare genetic
condition caused by a mutation in the gene CIAS1 (H. Hoffman, 2001A).
The condition was first reported in 1940 by Kile and Rusk. It is
transmitted from generation to generation in an autosomal dominant
pattern and affects approximately 50% of offspring. Male and female
children are equally affected. FCAS has been inadvertently associated
with Acquired Cold Urticaria (ACU); however, they are distinct and
unrelated conditions (H. Hoffman, 2003). Familial cold autoinflammatory syndrome is one of a cluster of
hereditary periodic fevers associated with mutations in the gene CIAS1.
Collectively, these disorders are referred to as CIAS1 Associated
Periodic Syndromes (CAPS) and also include Muckle-Wells Syndrome (MWS)
and Neonatal Onset Multisystem Inflammatory Disorder (NOMID).
FCAS is characterized by fever, rash, chills, arthralgia, myalgia, and
fatigue brought on by exposure to cold. These symptoms may also be
accompanied by conjunctivitis and peri-articular inflammation. The
onset of symptoms is often related to a change in temperature rather
than an absolute ambient temperature. The mean time to onset of
symptoms following exposure to cold is 1.5 hours; rash presents as the
initial symptom of an episode. The length of a FCAS episode is usually
less than 24 hours. Laboratory abnormalities associated with FCAS include an elevated white
count and elevated acute phase reactants such as C-reactive protein
(CRP) and serum amyloid A (SAA).
Introductory Letter from Hal Hoffman, M.D.
I would like to call your attention to a research study of FCAS that is now beginning.
This study will involve collecting daily diary information about symptoms that FCAS patients experience, and obtaining periodic blood samples to monitor variation in the amount of inflammation in FCAS patients. The study should begin sometime in the next few months and last for up to three months. Patients who agree to participate will be asked to complete a simple one-page questionnaire form on a daily basis as well as to have their blood drawn three times during the study. This questionnaire will be available on the internet, but there will also be a paper form that can be filled out and sent by mail for those of you who prefer this method. The study will also require signing an informed consent document and completing a more in-depth questionnaire at the beginning of the study and another short questionnaire at the end of the study. All of the information collected will be confidential and will not be included in your medical record.
The reason we are doing this study is to better understand daily symptoms and chronic inflammation that people with FCAS experience. It is extremely important to have as many daily diaries and blood samples from as many patients as possible, because the results will be used to help guide potential future studies to determine if medications are effective at preventing FCAS symptoms and inflammation. If you are aware of relatives with FCAS who may not have received this newsletter, please let them know about the study so they can participate as well. All costs associated with mailing forms and blood draws will be covered. Subjects will be compensated $25.00 for time and effort associated with each of the blood draws and $25.00 for each month of completing the daily diaries. You will not receive specific results pertaining to your questionnaire responses, but you will be provided with overall results at the end of the study. You will not receive specific laboratory results, unless the result warrants further evaluation.
This study is sponsored by Regeneron Pharmacuticals, Inc., a company that manufactures IL-1 Trap. This investigational drug is currently under study at the National Institute of Health for the treatment of FCAS and related conditions. It is hoped that this questionnaire study will lead to more studies of FCAS; particularly those that will involve development of future treatments. We cannot guarantee, however, that such studies will occur or whether any specific participant in this study will be able to participate in future studies.
This study will be conducted by my collaborator Dr. Fred Wolfe at the National Databank for Rheumatic Diseases, who has experience in collecting information in this manner. If you are interested in participating, please contact his office at: NDB, 1035 N Emporia Suite 230 Wichtia, KS 67214, Phone: (316)263-2125 or 1-800-323-5871 ext 143 or ext 119.
If you received this letter or an email from Hal Hoffman, MD and would like to enroll in this study, please contact the NDB at 1-800-323-5871 ext. 143 or ext 119.
The NDB office is open from 8am to 6pm Central Standard Time.