Familial cold urticaria
Encyclopedia
Familial cold urticaria (also properly known as familial cold autoinflammatory syndrome, FCAS) is an autosomal dominant condition characterized by rash
, conjunctivitis
, fever
/chills and arthralgia
s elicited by exposure to cold - sometimes temperatures below 22°C (72°F).
It has been mapped to CIAS1
and is a slightly milder member of the disease family including Muckle–Wells syndrome and NOMID. It is rare and is estimated as having a prevalence of 1 per million people and mainly affects Americans and Europeans.
FCAS is one of the cryopyrin-associated periodic syndrome
s (CAPS) caused by mutations in the CIAS1
/NALP3 (aka NLRP3) gene
at location 1q44.
The effect of FCAS on the quality of life of patients is far reaching. A survey of patients in the United States in 2008 found, "To cope with their underlying disease and to try to avoid symptomatic, painful, flares patients reported limiting their work, school, family, and social activities. Seventy-eight percent of survey participants described an impact of the disease on their work, including absenteeism and impaired job advancement; frequently they quit their job as a consequence of their disease".
Treatment using anakinra
(Kineret) has been shown effective for FCAS although this does mean daily injections of the immunosuppressant
into an area such as the lower abdomen
. The monoclonal antibody canakinumab
(Ilaris) is also used.
Rash
A rash is a change of the skin which affects its color, appearance or texture. A rash may be localized in one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, chapped, dry, cracked or blistered, swell and may be painful. The causes, and...
, conjunctivitis
Conjunctivitis
Conjunctivitis refers to inflammation of the conjunctiva...
, fever
Fever
Fever is a common medical sign characterized by an elevation of temperature above the normal range of due to an increase in the body temperature regulatory set-point. This increase in set-point triggers increased muscle tone and shivering.As a person's temperature increases, there is, in...
/chills and arthralgia
Arthralgia
Arthralgia literally means joint pain; it is a symptom of injury, infection, illnesses or an allergic reaction to medication....
s elicited by exposure to cold - sometimes temperatures below 22°C (72°F).
It has been mapped to CIAS1
CIAS1
NACHT, LRR and PYD domains-containing protein 3 or cryopyrin is a protein that in humans is encoded by the NLRP3 gene. The gene is also called cold induced autoinflammatory syndrome 1 and is located on the long arm of chromosome 1...
and is a slightly milder member of the disease family including Muckle–Wells syndrome and NOMID. It is rare and is estimated as having a prevalence of 1 per million people and mainly affects Americans and Europeans.
FCAS is one of the cryopyrin-associated periodic syndrome
Cryopyrin-associated periodic syndrome
Cryopyrin-associated periodic syndrome is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome , the Muckle-Wells syndrome , and neonatal-onset multisystem inflammatory disease...
s (CAPS) caused by mutations in the CIAS1
CIAS1
NACHT, LRR and PYD domains-containing protein 3 or cryopyrin is a protein that in humans is encoded by the NLRP3 gene. The gene is also called cold induced autoinflammatory syndrome 1 and is located on the long arm of chromosome 1...
/NALP3 (aka NLRP3) gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
at location 1q44.
The effect of FCAS on the quality of life of patients is far reaching. A survey of patients in the United States in 2008 found, "To cope with their underlying disease and to try to avoid symptomatic, painful, flares patients reported limiting their work, school, family, and social activities. Seventy-eight percent of survey participants described an impact of the disease on their work, including absenteeism and impaired job advancement; frequently they quit their job as a consequence of their disease".
Treatment using anakinra
Anakinra
Anakinra is a drug used to treat rheumatoid arthritis.-Mechanism:Anakinra is an interleukin-1 receptor antagonist...
(Kineret) has been shown effective for FCAS although this does mean daily injections of the immunosuppressant
Immunosuppressant
An immunosuppressant is any substance that performs immunosuppression of the immune system. They may be either exogenous, as immunosuppressive drugs, or endogenous, as ,e. g., testosterone...
into an area such as the lower abdomen
Abdomen
In vertebrates such as mammals the abdomen constitutes the part of the body between the thorax and pelvis. The region enclosed by the abdomen is termed the abdominal cavity...
. The monoclonal antibody canakinumab
Canakinumab
Canakinumab is a human monoclonal antibody targeted at interleukin-1 beta. It has no cross-reactivity with other members of the interleukin-1 family, including interleukin-1 alpha....
(Ilaris) is also used.
See also
- Cold urticaria
- ErythemaErythemaErythema is redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. It occurs with any skin injury, infection, or inflammation...
- DiascopyDiascopyDiascopy is a test for blanchability performed by applying pressure with a finger or glass slide and observing color changes.It is used to determine whether a lesion is vascular or nonvascular or hemorrhagic . Hemorrhagic lesions and nonvascular lesions do not blanch; inflammatory lesions do...
- Skin lesion
- AmyloidosisAmyloidosisIn medicine, amyloidosis refers to a variety of conditions whereby the body produces "bad proteins", denoted as amyloid proteins, which are abnormally deposited in organs and/or tissues and cause harm. A protein is described as being amyloid if, due to an alteration in its secondary structure, it...
- List of cutaneous conditions