Clinical presentation starts as soon as birth and virtually all patients develop symptoms within the first 6 months of life [4]. After exposure to cold temperatures or sudden drops that may be caused by air conditioning, rash, fever and arthralgia are most frequently reported [1]. The rash develops approximately 1-2 hours after cold exposure and is painful, pruritic and urticaria-like [4]. Low-grade fever and arthralgia ensue several hours after the onset of rash, while additional symptoms include sweating, headaches, nausea and extreme thirst [4]. Ocular symptoms such as conjunctivitis are frequent, while certain reports have also documented keratitis [3].

• Fever

  A painful, pruritic, urticaria-like rash that is followed by fever, joint pain, fatigue, headache and fever is the typical clinical course. Symptoms are preceded by exposure to cold temperatures by 1-2 hours, which is a hallmark of FCU. [symptoma.com]

  This condition rarely occurs in infancy, and DOES NOT present with fevers or arthralgias. [autoinflammatory.org]

  NLRP3 Deletion and Duplication Analysis NLRP3 Whole Gene Sequencing Periodic Fever, 6 Gene Deletion and Duplication Panel Periodic Fever, 6 Gene NGS Panel Periodic Fever Deletion and Duplication Panel Periodic Fever NGS Panel Search Tests Search this [ddccliniclab.org]

• Inflammation

  Have identified two mutations in the gene NLRP12 appear to reduce the ability of the Monarch-1 protein to inhibit inflammation, causing episodes of fever and inflammation that occur in this process. [ivami.com]

  This can also occur during flares with NOMID/ CINCA and Muckle-Wells Syndrome, but people with FCAS do NOT generally have the other persistent eye inflammation issues present, as seen in NOMID patients. [autoinflammatory.org]

  Defective production of these causes oversecretion of an inflammatory chemical called interleukin-1, resulting in systemic manifestations of inflammation. [news-medical.net]

  These genes normally give instructions for making proteins that help regulate the process of inflammation in the immune system. When these genes change, the body’s ability to control inflammation is impaired, which causes symptoms. [patientworthy.com]

• Amyloidosis

  Amyloidosis of the amyloidosis-associated type is the main complication of MWS and is sometimes associated with FCU. In FCU, cold exposure is the triggering factor of the inflammatory crisis. [ncbi.nlm.nih.gov]

  Of particular note is that the severity phenotype does not predict who will develop systemic amyloidosis. Even patients with relatively mild symptoms (FCAS-like) can develop systemic amyloidosis. [dermatologyadvisor.com]

  Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis). Clin Auton Res. 2018 Mar 6. [Medline]. Floege J, Bartsch A, Schulze M, Shaldon S, Koch KM, Smeby LC. [medscape.com]

  Renal and systemic amyloidosis is a major cause of morbidity in MWS and FCAS. Treatment with anakinra typically results in improvement of symptoms. [genedx.com]

• Chills

  FACU differs from familial cold auto-inflammatory syndrome in symptom timing and the absence of fever, chills, and joint pain. The cause is suspected to be mast cell related. Treatment of reactions is similar to that for ACU. [coldallergy.org]

  Associated fever, chills, joint pains, nausea, stiffness and swelling of the hands and feet frequently occur. The symptoms are variable, ranging from mild to incapacitating. The pathogenesis of FCU remains unknown. [ncbi.nlm.nih.gov]

  These apple cider hot toddies are a simple and tasty way to warm up tonight when you are feeling a chill in your bones. Try one of these drinks tonight; they are a perfect way to take the chill off! [theinspiredhome.com]

  Roughly 1-4 hours when a cold exposure rash, fever, chills, joint pains, and red eyes develop. Alternative less common symptoms embrace extreme thirst, drowsiness, nausea, and headaches. An “attack” typically lasts 24-48 hours. [aryanzherbal.com]

• Fatigue

  Most symptoms during an episode last less than 24 hours, and can also include conjunctivitis in the eyes, sweating, fatigue, headaches, generalized pains, extreme thirst, and nausea in addition to the fever, rash and joint pains. [autoinflammatory.org]

  Neurologic: Some have headaches and fatigue with fever after cold exposure. [autoinflammatory-search.org]

  They include: Itchy, burning rash that usually starts on the face or extremities and spreads Fever (may last from a few hours to three days) Joint pain Conjunctivitis (redness in the whites of the eyes) Swelling Fatigue Muscle pain Intense sweating Headache [patientworthy.com]

  A painful, pruritic, urticaria-like rash that is followed by fever, joint pain, fatigue, headache and fever is the typical clinical course. Symptoms are preceded by exposure to cold temperatures by 1-2 hours, which is a hallmark of FCU. [symptoma.com]

• Nausea

  Associated fever, chills, joint pains, nausea, stiffness and swelling of the hands and feet frequently occur. The symptoms are variable, ranging from mild to incapacitating. The pathogenesis of FCU remains unknown. [ncbi.nlm.nih.gov]

  Most symptoms during an episode last less than 24 hours, and can also include conjunctivitis in the eyes, sweating, fatigue, headaches, generalized pains, extreme thirst, and nausea in addition to the fever, rash and joint pains. [autoinflammatory.org]

  Profuse sweating, drowsiness, headache, extreme thirst, and nausea are also noticed after cold exposure. [orpha.net]

  Alternative less common symptoms embrace extreme thirst, drowsiness, nausea, and headaches. An “attack” typically lasts 24-48 hours. The rash isn’t fretful, however is commonly delineate as painful or “burning.” [aryanzherbal.com]

• Polydipsia

  […] these symptoms Headache Headaches 0002315 Nausea and vomiting 0002017 5%-29% of people have these symptoms Abdominal pain Pain in stomach Stomach pain [ more ] 0002027 Arthralgia Joint pain 0002829 Conjunctivitis Pink eye 0000509 Dehydration 0001944 Polydipsia [rarediseases.info.nih.gov]

• Hearing Impairment

  About 50% of patients will have some degree of sensorineural hearing impairment, which may require the use of hearing aids. [dermatologyadvisor.com]

  Changes in these genes impair the body's mechanisms for controlling inflammation, resulting in the signs and symptoms of this condition. [rarediseases.info.nih.gov]

• Blurred Vision

  vision, watering eyes Episodes usually last for less than day. [patientworthy.com]

  But in that time, the person suffers greatly from many symptoms, which may include: rash, fevers, fatigue, chills, joint and other pain, conjunctivitis (redness of the whites of the eyes), extreme sweating, headaches, excessive thirst, blurred vision, [autoinflammatory.org]

  Other symptoms include profuse sweating, drowsiness, headache, extreme thirst, red eyes, blurred vision, eye pain, watering eyes and nausea Symptoms occur within hours after exposure to cold. [rarediseases.org]

• Periorbital Edema

  Absence of More Severe Symptoms In FCAS patients, there is NO evidence of periorbital edema (swelling around the eye orbit), lymphadenopathy (enlarged lymph nodes), or inflammation of the pleural, peritoneal or pericardial cavities in the body (serositis [autoinflammatory.org]

  edema, serositis and lymph node involvement are hallmarks of FCU. [symptoma.com]

  Ocular inflammation with periorbital edema or conjunctivitis is common. [41] Arthralgia is more prominent than arthritis and generally involves single joints, especially the hip, knees, and ankles. Scrotal inflammation may occur. [emedicine.medscape.com]

• Eye Swelling

  They include: Itchy, burning rash that usually starts on the face or extremities and spreads Fever (may last from a few hours to three days) Joint pain Conjunctivitis (redness in the whites of the eyes) Swelling Fatigue Muscle pain Intense sweating Headache [patientworthy.com]

  […] of the eyes, swelling of one or more lymph nodes, and serositis (the inflammation of the serous membrane which lines and encloses several body cavities, including the abdomen and the heart). [rarediseases.org]

• Arthralgia

  Abstract This is a case of a 26‐year‐old Caucasian woman with a lifelong history of an episodic urticaria associated with arthralgia, precipitated by exposure to cold. She had no other significant past medical history. [onlinelibrary.wiley.com]

  Abstract Familial cold urticaria (FCU) is a rare autosomal dominant inflammatory disorder characterized by intermittent episodes of rash with fever, arthralgias, conjunctivitis, and leukocytosis. [ncbi.nlm.nih.gov]

  MWS is characterized by progressive sensorineural deafness as well as recurrent episodes of skin rash, fever and arthralgia (1). [medicaljournals.se]

• Myalgia

  Definition A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure [uniprot.org]

  It is characterized by recurrent episodes of skin rash with arthralgias, myalgias, fever and chills. Typically those attacks occur after exposure to cold. [moldiag.com]

  FCAS causes hives, fever, chills, myalgias, headache, stiffness and swelling, among other symptoms. “It's like you're freezing from the inside out,” says Rachel Doherty. “Your whole body contracts until you warm up, which can take hours or days.” [news-medical.net]

  Myalgia is another frequent finding in patients with FMF (reported in 20% of cases). [emedicine.medscape.com]

  Other symptoms include myalgia, urticaria and occasionally headaches, sensorineural hearing loss, buccal aphthous ulcers, and lymphadenopathy. Symptom onset occurs during the first days of life (Jeru et al. 2011). [preventiongenetics.com]

• Sweating

  Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ] 0000975 Myalgia Muscle ache Muscle pain [ more ] 0003326 Pruritus Itching Itchy skin Skin itching [ more ] 0000989 Urticaria Hives 0001025 30%-79% of people [rarediseases.info.nih.gov]

• Skin Rash

  […] months Urticarial rash + ND ND ND + ND – ND FCAS 31 years/F 2 years Skin rash + ND + + + ND ND ND Yamashita et al. 1987 (17) FCAS 3 years/M 2 months Skin rash + ND + – + ND ND ND CINCA 14 years/M At birth Skin rash ND ND + + ND ND ND + Inamo et al. 1994 [medicaljournals.se]

  The skin rashes appear almost within minutes of exposure to cold The body skin exposed to cold is typically affected. Intense itching may lead to skin ulceration and scarring, which can cause emotional stress from cosmetic concerns. [dovemed.com]

  What are the features of the skin rash of familial cold autoinflammatory syndrome? The skin rash is often the first sign of this syndrome, appearing soon after birth or in early infancy. [dermnetnz.org]

  In addition to the skin rash, episodes are characterized by fever, chills, and joint pain, most often affecting the hands, knees, and ankles. [ghr.nlm.nih.gov]

• Eruptions

  She reported several family members with a history of very similar episodic eruptions without definitive diagnoses. An examination showed an urticarial eruption over her limbs with no other systemic findings. [onlinelibrary.wiley.com]

  Cutis. 2016 January;97(1):59-62 Cold urticaria is a physical urticaria characterized by a localized or systemic eruption of papules upon exposure of the skin to cold air, liquids, and/or objects. [mdedge.com]

  People who have the “acquired form,” however, erupt into hives within two to five minutes after exposure. [inverse.com]

  The good news is that treatment is usually successful, meaning skin eruptions are suppressed. Avoiding contact with cold water, air or objects is crucial. [healthcentral.com]

  It's conjointly been mentioned as cold hypersensitivity, cold pathergy, and familial cold polymorphous eruption. It's also been documented as fireplace and Ice Syndrome. [ayurvedayogashram.com]

• Increased Sweating

  Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ] 0000975 Myalgia Muscle ache Muscle pain [ more ] 0003326 Pruritus Itching Itchy skin Skin itching [ more ] 0000989 Urticaria Hives 0001025 30%-79% of people [rarediseases.info.nih.gov]

• Hyperhidrosis

  Showing of 22 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Arthritis Joint inflammation 0001369 Dysesthesia 0012534 Erythema 0010783 Fatigue Tired Tiredness [ more ] 0012378 Fever 0001945 Hyperhidrosis Excessive [rarediseases.info.nih.gov]

• Headache

  Low-grade fever and arthralgia ensue several hours after the onset of rash, while additional symptoms include sweating, headaches, nausea and extreme thirst. [symptoma.com]

  Most symptoms during an episode last less than 24 hours, and can also include conjunctivitis in the eyes, sweating, fatigue, headaches, generalized pains, extreme thirst, and nausea in addition to the fever, rash and joint pains. [autoinflammatory.org]

  Patients also can develop fever, chills, nausea, severe thirst, red eyes, headaches and joint pain. Episodes usually last up to one day. What causes the disease? CAPS are genetic diseases. [rheumatology.org]

• Confusion

  People are typically confused because allergies are sometimes called hay fever, but this isn’t a fever. How long you notice the symptoms also provides a clue to the cause. If you have a cold, the symptoms will normally last no longer than two weeks. [bellyfatlossreview.com]

  FCAS must NOT be confused with Acquired Cold Urticaria (ACU) also known as Cold Urticaria (CU), which is a common, non-genetic kind of allergic reaction to cold temperatures that develops later in life, and presents with symptoms of rash and allergic [autoinflammatory.org]

  Overdose Overdose symptoms include confusion, trouble sleeping, feeling excited or agitated, nausea, or diarrhea. Contact your doctor immediately if you suspect overdose. [qualitypillprovider.com]

  While histamine release from drugs is not known to trigger cold urticaria, an urticarial reaction from any source can confuse the clinical picture of a patient with cold urticaria. [frontiersin.org]

• Irritability

  Experiencing chronic sneezing, an irritated throat, and a pounding headache? Well alcohol may actually solve – and not aggravate – your problem, a study has found. [metro.co.uk]

  These chemicals are responsible for the redness of the skin and irritation in the body system. [epainassist.com]

  Conjunctivitis The presence of conjunctivitis (irritation and redness in the white area of the eye) with attacks or flares of FCAS. [autoinflammatory.org]

  Multiple medical journals have confirmed the soothing qualities of peppermint oil for digestion, specifically in the treatment of irritable bowel syndrome. Of course, peppermint can be ingested in many non-alcoholic forms, too. [vice.com]

FCU may be established on the basis of diagnostic criteria that have been proposed in order to distinguish it from other conditions that present with similar symptoms, such as familial Mediterranean fever, hyper-IgD syndrome and acquired cold urticaria. Confirmed autosomal dominant pattern of inheritance, onset before 6 months of age, recurrent episodic appearance of fever and rash, but also conjunctivitis when exposed to cold environments, resolution of symptoms within 24 hours of their onset, together with absence of deafness, periorbital edema, serositis and lymph node involvement are hallmarks of FCU [4]. To distinguish this condition from other cryopyrinopathies, absence of neurological symptoms and presence of optic neuritis and papilledema should be evaluated (which is characteristic for CINCA) [7]. Genetic testing to establish NLRP gene mutations is a definite diagnostic measure, but because it is scarcely available, workup remains on clinical criteria.

• Leukocytosis

  Furthermore, leukocytosis was an initial symptom after exposure to cold. [creighton.pure.elsevier.com]

  Abstract Familial cold urticaria (FCU) is a rare autosomal dominant inflammatory disorder characterized by intermittent episodes of rash with fever, arthralgias, conjunctivitis, and leukocytosis. [ncbi.nlm.nih.gov]

  A generalized reaction involving leukocytosis. [^] 11. Kaplan AP et al. (1981) Idiopathic cold urticaria: in vitro demonstration of histamine release upon challenge of skin biopsies. [^] 12. None (1981) Exploiting the cold-urticaria model. [^] 13. [moldiag.com]

  Leukocytosis with flares. [1] Search Keywords: Cold, urticaria, cold induced, cold-induced, cold-triggered, cold urticaria, familial cold urticara syndrome, FCUS, familal cold autoinflammatory syndrome, FCAS, cold bumps, cold urticaria, NLRP3, Cryopyrin [autoinflammatory-search.org]

  A generalized reaction involving leukocytosis. 56 61 Tindall JP...Rosse WF 5797070 1969 13 Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 6 Hoffman HM...Kolodner RD 12522564 2003 14 Idiopathic [malacards.org]

Initial therapeutic strategies included administration of NSAIDs, corticosteroids and body warming, but the introduction of IL-1β receptor antagonists resulted in dramatic improvement and maintenance of symptoms [4] [9]. Anakira has shown to be very effective in many patients and is given subcutaneously in doses of 0.5-1.5 mg/kg/day. Apart from injection-site reaction, which showed to be present in up to 50% of patients according to some studies [10], adverse effects are minimal and is safe for long-term use.

A very early onset of symptoms (< 6 months of age) and their frequent appearance may be severely debilitating for the patient, but the prognosis has drastically improved with the introduction of IL-1 receptor antagonists. Late-onset amyloidosis that involves the kidneys, a potentially life-threatening complication, is reported in less than 2% of patients [9], and is more frequently observed in other cryopyrinopathies [9]. Nevertheless, monitoring of renal function is generally recommended [4]. This condition does not pose significant risk in terms of life expectancy and it is considered to be the mildest variant of cryopyrinopathies [4].

In the vast majority of cases, FCU develops due to mutations of cryopyrin, a protein that is coded by the NALP3 (knows as CIAS1) gene on chromosome 1q44 [2]. NALP3 gene products, including cryopyrin, belong to the group of nucleotide-binding domain and leucine-rich-repeat containing proteins (NLRs) and numerous mutations of these molecules have been identified across all diseases that are classified into cryopyrinopathies [5]. Additionally, these mutations are transmitted by an autosomal dominant pattern of inheritance, with a 50% chance for children to be born with these mutations if one of the parents is suffering from FCU.

FCU is considered to be a very rare clinical entity and only about 150 cases have been documented, mainly from Europe and North America [6]. Moreover, rough incidence rates estimate that FCU develops in less than 1 in 1 million individuals [4]. Apart from genetic predisposition, risk factors for this condition have not been established.

The pathogenesis of FCU starts with mutations in the NLRP family of genes. NALP1 belongs to this group and codes for cryopyrin, an important constituent of numerous pro-inflammatory activities exerted by the immune system. One of the pivotal roles of cryopyrin is the assembly of the inflammasome and upregulation of transcription pathways, mainly NF-κB, ultimately leading to increased cleavage of IL-1β from its inactive forms [8]. IL-1β is one of the most potent pro-inflammatory cytokines, while abnormalities in concentrations of IL-6, tumor necrosis factor alpha (TNF-α) and granulocyte-colony stimulating factor (G-CSF) have also been documented [8] [9]. On the contrary, mutations of proteins that should suppress the inflammatory response, such as monarch-1 (or NLRP12) have also been discovered [5], indicating that FCU is characterized by both overt stimulation and reduced capacity for inhibition of the inflammatory response. For unknown reasons, these mechanisms are triggered at very cold temperatures and lead to the development symptoms.

Although specific mutations have been established, current prevention strategies do not exist. Genetic counseling for families with known mutations may be advised, as there is a 50% chance for disease transmission.

Familial cold urticaria (FCU), or familial cold autoinflammatory syndrome (FCAS), is a clinical entity that belongs to the group of cryopyrinopathies, together with Muckle Wells syndrome (MWS) and Chronic Infantile Neurological Cutaneous and Articular syndrome (CINCA) [1]. Mutations of the NALP3 gene (also known as CIAS1) on chromosome 1q44 and alterations of cryopyrin, a protein that is expressed in peripheral leukocytes and chondrocytes, are the underlying cause of symptoms in this group of diseases [2]. Cryopyrin is involved in various pro-inflammatory processes, one of them being activation of caspase 1 and nuclear transcription factor-kappa B (NF-κB), eventually causing upregulation of interleukin 1 (IL-1) production and inflammation that produces symptoms [3]. FCU has shown to have an autosomal dominant pattern of inheritance, but sporadic cases in whom de novo mutations occurred have been reported [4]. Only about 150 cases in Europe and North America have been documented in literature and incidence rates are estimated to be below 1 per 1 million individuals [4] [5]. The clinical presentation includes a very early onset, as the majority of patients develop clear symptoms within the first 6 months of life [6]. A painful, pruritic, urticaria-like rash that is followed by fever, joint pain, fatigue, headache and fever is the typical clinical course [7]. Symptoms are preceded by exposure to cold temperatures by 1-2 hours, which is a hallmark of FCU [7]. Symptoms come in attacks and the duration may vary depending severity of exposure, but in most patients, resolution is seen within 24 hours [4]. To make the diagnosis, evident appearance of symptoms after exposure to cold temperatures and a positive family history for similar complaints are highly suggestive of FCU. When symptoms are present, acute-phase reactants such as C-reactive protein as well as leukocyte count may be elevated [7]. Although identification of NALP3 mutations can confirm the diagnosis, this test is not readily available. Treatment principles have drastically changed with the introduction of anakira, an IL-1β receptor antagonist, which showed markedly better results compared to non-steroidal anti-inflammatory drugs (NSAIDs) and corticosteroids, both in terms of efficacy and severity of adverse effects [4]. When it comes to prevention, genetic counseling is advisable for families in whom NALP3 gene mutations have been established.

Familial cold urticaria (FCU), also known as familial cold autoinflammatory syndrome (FCAS), belongs to the group of diseases known as cryopyrinopathies, together with Muckle-Wells syndrome (MWS) and Chronic Infantile Neurological Cutaneous and Articular syndrome (CINCA). In FCU, symptoms arise due to mutations of cryopyrin, a protein that is involved in production of an inflammatory response. Namely, cryopyrin is abnormally activated and stimulates production of interleukin-1 (IL-1), one of the most potent molecules that mobilizes cells of the immune system and triggers the onset of symptoms. The condition is genetic in origin, as it is transferred from parents to children by autosomal dominant pattern of inheritance, meaning that one of the parents also suffers from this condition. Only 150 cases have been described in literature so far, mainly from Europe and the United States, with estimations that FCU is seen in less than 1 in 1 million individuals. The hallmark of FCU is the appearance of symptoms such as rash, joint pain and fever after exposure to cold temperatures. After 1-2 hours, a rash that is itchy, painful and resembles urticaria (seen in allergies) develops, followed by low-grade fever, joint pain, conjunctivitis, headaches, drowsiness and extreme thirst. These complaints usually resolve within 24 hours after their appearance and recur practically every day. To distinguish FCU from other diseases that belong in the same group, the onset of symptoms before 6 months of age (some may even present at birth) and absence of neurological and hearing symptoms may be useful. To make the diagnosis, signs and symptoms together with patient history should suffice, while genetic testing may serve as a definite measure, but it is not commercially available. Treatment is focused on alleviation of symptoms through administration of drugs that suppress inflammation, such as non-steroidal anti-inflammatory drugs (NSAIDs) and corticosterodis, but the introduction of anakira, an interleukin-1 receptor antagonist, has significantly improved management of patients. Complications of FCU are rare and minimal compared to Muckle Wells syndrome and CINCA and life expectancy is normal compared to the general population, but an early diagnosis may significantly reduce the burden this condition may have on the quality of life.

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