Living with Familial cold autoinflammatory syndrome
An inherited condition with itchy or burning rash, fever, and joint pain after cold exposure.
Understanding Familial cold autoinflammatory syndrome
Exposure to cold causes an itchy or burning rash, fever, and joint pain. It can begin at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hives (itchy or burning rash)
- Fever
- Joint pain or arthritis
- Muscle aches
- Headache
- Tiredness (fatigue)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, allergy and immune system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in NLRP3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Autoimmune Association and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Autoimmune Association, Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Autoimmune Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the NLRP3 or NLRP12 gene can cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: cold-induced autoinflammatory syndrome, familial; familial cold urticaria; fcas; fcas - familial cold autoinflammatory syndrome; fcu; fcu - familial cold urticaria
Patient organizations
- Autoimmune AssociationFamilial cold autoinflammatory syndrome · United States
- The International Foundation for Autoimmune & Autoinflammatory ArthritisFamilial cold autoinflammatory syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial cold autoinflammatory syndrome.
Explore research for Familial cold autoinflammatory syndrome
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