Living with Familial cold autoinflammatory syndrome 2
A rare inherited condition with repeated fever episodes, often triggered by cold, starting in infancy.
Understanding Familial cold autoinflammatory syndrome 2
Episodes can include muscle and joint pain, joint swelling, hives, headache, and rash. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated fever
- Hives
- Joint pain
- Muscle aches
- Headache
- Hearing loss from the inner ear
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in NLRP12 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 The International Foundation for Autoimmune & Autoinflammatory Arthritis 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 NLRP12 gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: familial cold autoinflammatory syndrome caused by mutation in nlrp12; familial cold autoinflammatory syndrome type 2; fcas2; fcas2 - familial cold autoinflammatory syndrome type 2; nalp12-associated hereditary periodic fever syndrome; naps12
Patient organizations
- The International Foundation for Autoimmune & Autoinflammatory ArthritisFamilial cold autoinflammatory syndrome 2 · 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 2.
Explore research for Familial cold autoinflammatory syndrome 2
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