Familial Cold Autoinflammatory Syndrome

Familial Cold Autoinflammatory Syndrome (FCAS) is a rare genetic disorder characterized by recurrent episodes of rash, fever, and arthralgia after exposure to cold temperatures. The syndrome is also known as Familial Cold Urticaria.

Pronunciation

Familial: /fəˈmɪliəl/ Cold: /koʊld/ Autoinflammatory: /ˌɔːtoʊɪnˈflæmətɔːri/ Syndrome: /ˈsɪndroʊm/

Etymology

The term "Familial Cold Autoinflammatory Syndrome" is derived from its familial nature (it is often inherited), the triggering factor (cold), and the resulting autoinflammatory response.

Symptoms

The primary symptoms of FCAS include:

• Rash
• Fever
• Arthralgia (joint pain)
• Conjunctivitis (redness and swelling of the eyes)
• Fatigue

Causes

FCAS is caused by mutations in the NLRP3 gene, which is involved in the body's immune response. These mutations lead to an overactive inflammatory response, particularly in response to cold temperatures.

Diagnosis

Diagnosis of FCAS is typically based on the characteristic symptoms and a family history of the condition. Genetic testing can confirm the diagnosis.

Treatment

Treatment for FCAS primarily involves managing symptoms and preventing flare-ups. This may include avoiding cold temperatures and taking medications to control inflammation.

Related Terms

• Autoinflammatory diseases
• Cryopyrin-associated periodic syndrome
• Muckle-Wells syndrome
• Neonatal-onset multisystem inflammatory disease

This WikiMD.org article is a stub. You can help make it a full article.