CAPS consists of three different diseases that are classified in terms of clinical pictures, organ involvement, severity, as well as triggers. They share similar features as well.

MWS manifests in infancy or childhood and continues onwards. Its symptoms include intermittent mild-to-moderate fever, recurrent non-itchy rashes, arthritis/arthralgia, malaise, and chills. Additionally, eye pathology such as conjunctivitis, uveitis, and episcleritis are observed in these patients. Furthermore, progressive bilateral sensorineural hearing loss is common and develops in adolescence, early adulthood or beyond. Headaches as a result of aseptic meningitis can occur as well. Amyloidosis of the organs such as the kidneys may develop in approximately one-third of patients. Finally, pigmented skin lesions are observed in individuals with MWS.

These attacks can occur spontaneously or may be a consequence of triggers such as cold weather, exercise, or stress. Note that while exposure to cold temperatures is a common trigger of FCAS, it is an infrequent precipitating factor in MWS. Moreover, the episodes are usually random and last for a duration of less than 36 hours although they can continue for five days. The patient usually feels well between these acute relapses.

Physical exam

Remarkable findings include lymphadenopathy and/or hepatosplenomegaly. Also, arthritis of the large joints, skin rashes, skin discoloration, and inflammatory eye conditions such as conjunctivitis are remarkable on the exam during flare-ups.

• Splenomegaly

  Conjunctivitis Pink eye 0000509 Cranial nerve paralysis 0006824 Episcleritis Inflammation of the thin layer on top of the white part of eye 0100534 Hepatomegaly Enlarged liver 0002240 Progressive sensorineural hearing impairment 0000408 Skin rash 0000988 Splenomegaly [rarediseases.info.nih.gov]

• Fever

  Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. [en.wikipedia.org]

  Periodic Fevers Moderate, low-grade fevers are often present, and add to the frequent suffering. Fevers start in early infancy. [autoinflammatory.org]

  Muckle-Wells Syndrome (MWS) is a rare type of genetic disease that is characterized by occasional occurrences of skin rash, fever and joint pain as well as various other problems. [hxbenefit.com]

• Amyloidosis

  […] dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis. [en.wikipedia.org]

  Amyloidosis MWS can have severe consequences due to chronic high levels of inflammation in the body. [autoinflammatory.org]

  […] disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. [bionity.com]

• Fatigue

  Cold, fatigue, stress, or exercise are universal triggers of acute inflammation however acute attacks may appear unprovoked. [orpha.net]

  In clinical studies, fatigue was measured using functional assessment of chronic illness therapy-fatigue or FACIT-F and short form-36 or SF-36, physical component score instruments. [science.gov]

  Hyperactivity has been reported with successful treatment, perhaps due to the improvement in fatigue. Weight gain can occur, particularly in females. [dermnetnz.org]

• Chills

  Intense general malaise and chills occur at the same time and lead to severe disability. [orpha.net]

  Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. [en.wikipedia.org]

  Individuals with MWS often have episodic fever, chills, and painful joints. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. [bionity.com]

• Malaise

  Intense general malaise and chills occur at the same time and lead to severe disability. [orpha.net]

  This cytokine interacts with a receptor on the surface of other immune cells to produce symptoms of inflammation such as fever, arthritis, and malaise. In MWS, the increased activity of cryopyrin leads to an increase in interleukin 1β. [en.wikipedia.org]

  This chemical interacts with a receptor on the surface of other immune cells to produce symptoms of inflammation such as fever, arthritis, and malaise. In MWS, the increased activity of cryopyrin leads to an increase in interleukin 1β. [bionity.com]

• Abdominal Pain

  Additional features include severe chronic fatigue, recurrent headaches, cognitive impairment, ocular involvement (conjunctivitis, uveitis, episcleritis), oral aphthosis, lymphadenopathy, thoracic and abdominal pain. [orpha.net]

  Patients diagnosed during childhood reported musculoskeletal symptoms (62%), rash (62%), fever (54%), and abdominal pain (31%). Those diagnosed as adults described musculoskeletal symptoms (86%), rash (67%), hearing loss (52%), and fatigue (29%). [ncbi.nlm.nih.gov]

  He also had joint and muscle pain in the absence of inflammatory signs; he had a few episodes of abdominal pain and evanescent rash on 2 occasions. There was no family history of recurrent fevers or connective tissue diseases. [reumatologiaclinica.org]

  Each episode, which commonly manifests in childhood, include abdominal pain, arthritis, urticaria, and conjunctivitis. The disease may later be complicated by sensorineural deafness and secondary amyloidosis (type AA). [nature.com]

• Nausea

  weight gain, injection site reactions (such as redness, swelling, warmth, or itching), and nausea. [ilaris.com]

  Other symptoms include fever, chills, nausea, extreme thirst, headache and joint pain. [arthritis.org]

  Biopsy, Genetic Testing, Others), Medication (Rilonacept, Canakinumab, Anakinra, Anti-Inflammatory Drugs, Corticosteroids, Others), Route of Administration (Oral, Parenteral, Others), Symptoms (Bloated Feeling, Intermittent Constipation, Abdominal Pain, Nausea [databridgemarketresearch.com]

  In addition to fever and joint pain, other possible symptoms include muscle aches, chills, drowsiness, eye redness, headache, and nausea. [medlineplus.gov]

• Aphthous Ulceration

  Associated findings may include renal amyloidosis (and renal insufficiency), aminoaciduria, conjunctivitis, abdominal pain, angioedema, meningitis, and aphthous ulceration of the buccal mucosa. [accessanesthesiology.mhmedical.com]

  While periodic fever adenitis pharyngitis aphthous ulcer (PFAPA) syndrome (aphthous stomatitis, pharyngitis, and adenitis), systemic juvenile idiopathic arthritis (sJIA), adult-onset Still disease, and Behcet disease overlap phenotypically with autoinflammatory [mayocliniclabs.com]

  Oral and vaginal aphthous ulcers may be present. Cervical lymphadenopathy is a common manifestation of HIDS, as are severe headache and splenomegaly. Pleurisy is uncommon. Amyloidosis has not been reported in patients with HIDS. [emedicine.medscape.com]

• Hepatosplenomegaly

  She also had hepatosplenomegaly and hyperimmunoglobulinemia, but did not have persistent arthritis, or any neurological or gastrointestinal disorder. No growth retardation was observed. [ncbi.nlm.nih.gov]

  The presence of hepatosplenomegaly had been detected in a pediatric examination. He also had joint and muscle pain in the absence of inflammatory signs; he had a few episodes of abdominal pain and evanescent rash on 2 occasions. [reumatologiaclinica.org]

  Physical examination revealed an elevated temperature (38.4°C) and generalized urticaria but no evidence of hepatosplenomegaly, adenopathy, or arthritis. [mdedge.com]

  Also, patients develop osteopathy and long-bone epiphyseal overgrowth, growth delay, and progressive sensory neural hearing loss, lymphadenopathy, with/or without hepatosplenomegaly. [clevelandclinicmeded.com]

  Physical exam Remarkable findings include lymphadenopathy and/or hepatosplenomegaly. [symptoma.com]

• Hepatomegaly

  Joint pain 0002829 Arthritis Joint inflammation 0001369 Broad foot Broad feet Wide foot [ more ] 0001769 Conjunctivitis Pink eye 0000509 Cranial nerve paralysis 0006824 Episcleritis Inflammation of the thin layer on top of the white part of eye 0100534 Hepatomegaly [rarediseases.info.nih.gov]

• Arthritis

  Arthritis and Rheumatism 2011; 63 (Issue 3): 840–849. [dermnetnz.org]

  Arthritis Rheum 65:824–831 CrossRef PubMed Google Scholar 7. [link.springer.com]

  Arthritis Res Ther 2011;13:R53. [karger.com]

  Arthritis Res Ther 2013;15:R30. 3. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004;50:607-12. 4. Farasat S, Aksentijevich I, Toro JR. [jpgmonline.com]

• Arthralgia

  Myalgia, arthralgias and distal edema are very common. With age, patients develop eythematous band over the hands as well as digital clubbing. [orpha.net]

  and fever after general exposure to cold, not necessarily by touch mildest form of CAPS, is characterized by recurrent and short-lived episodes of rash, fever, arthralgias, and conjunctivitis that are triggered by exposure to cold symptoms occur early [gpnotebook.com]

  Methods: : A 46-year old man with urticaria-like skin eruptions, periodic fever, arthralgias and sensorineural hearing loss was referred for ophthalmological evaluation. MWS was suspected. [iovs.arvojournals.org]

• Myalgia

  Myalgia, arthralgias and distal edema are very common. With age, patients develop eythematous band over the hands as well as digital clubbing. [orpha.net]

  It is characterized by recurrent self-limiting episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis from childhood. Progressive sensorineural hearing loss and amyloidosis are two late complications. [ncbi.nlm.nih.gov]

• Ankle Pain

  Back pain, joint and ankle pain, GI issues, some headaches, plugged ears and ear infections, fatigue are def. daily and some are weekly issues. He also has many tics and neuro. issues that show daily. I will try to give you a call for sure. [rareshare.org]

• Knee Pain

  I noticed his pattern of mouth ulcers, fevers, rash, and joint pain and when I brought these symptoms up to his regular physician he looked at me like I was a nut. Even my husband wasn't understanding our sons battle with itching and knee pain. [rareconnect.org]

• Urticaria

  "Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome". The Quarterly Journal of Medicine. 31: 235–48. PMID 14476827. External links[edit] [en.wikipedia.org]

  Disease definition Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural [orpha.net]

  Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962 Apr;31:235-48. PMID 14476827 ^ Rynne M, Maclean C, Bybee A, McDermott MF, Emery P. [bionity.com]

  Muckle–Wells Syndrome Synonyms The disease is referred to by various names like: Urticaria, deafness and amyloidosis UDA syndrome Urticaria-deafness-amyloidosis syndrome Muckle-Wells Syndrome History This syndrome was described for the first time in the [hxbenefit.com]

• Skin Lesion

  In addition, pigmented skin lesions may occur in affected individuals. Muckle-Wells syndrome is a rare disorder. It has been reported in many regions of the world, but its prevalence is unknown. [ghr.nlm.nih.gov]

  Herein we describe six cases of MWS showing, in addition to the classic features of MWS, unique skin lesions that to the best of our knowledge have not been described before in association with MWS. [ncbi.nlm.nih.gov]

  In addition, pigmented skin lesions may occur in affected individuals. Diagnosis of Muckle-Wells Syndrome History and clinical examination usually clinch the diagnosis. [boneandspine.com]

• Eruptions

  Muckle-Wells syndrome is characterized by a recurrent urticarial eruption that is associated with episodic fever, myalgia, arthralgia, malaise, progressive sensorineural hearing loss, and amyloid nephropathy (the most severe complication). [ncbi.nlm.nih.gov]

  It is characterized by a chronic urticarial eruption that starts early in infancy or childhood. The distribution of the cutaneous eruption is widespread and favors the arms and legs over the face and trunk. [mdedge.com]

  Methods: : A 46-year old man with urticaria-like skin eruptions, periodic fever, arthralgias and sensorineural hearing loss was referred for ophthalmological evaluation. MWS was suspected. [iovs.arvojournals.org]

• Hyperpigmentation

  Describe six cases of sclerodermoid lesions, with hyperpigmentation, sclerosis and hypertrichosis4. [scielo.br]

  […] joints of the extremities), chronic headache, and irritability secondary to increased intracranial pressure due to chronic aseptic meningitis of mild intensity, demyelinating lesions, 14 cutaneous lesions (aphthosis, ichthyosis, hypertrichosis, and hyperpigmentation [revistanefrologia.com]

• Skin Discoloration

  Also, arthritis of the large joints, skin rashes, skin discoloration, and inflammatory eye conditions such as conjunctivitis are remarkable on the exam during flare-ups. [symptoma.com]

• Progressive Hearing Loss

  hearing loss and amyloidosis. [rarediseases.org]

• Progressive Sensorineural Deafness

  Progressive sensorineural deafness, and, in approximately one third of the patients, amyloidosis of the kidneys as well as of other organs may occur. It was first described in 1962 by Muckle and Wells. [ncbi.nlm.nih.gov]

  Definition A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. [uniprot.org]

  Muckle-Wells syndrome is characterized by recurrent fever and urticarial rash, progressive sensorineural deafness and the development of secondary amyloidosis, but it is not considered the most severe disease of this group. [scite.ai]

  Progress Progressive bilateral sensorineural deafness develops in two-thirds of patients with Muckle-Wells syndrome, usually appearing first in childhood through to early adultlife. High-frequency loss is the first sign. [dermnetnz.org]

• Hearing Problem

  The basic "pre-school hearing tests" will not usually catch the complex array of hearing problems early enough, but it may help to find those children with very profound hearing losses. [autoinflammatory.org]

• Anterior Uveitis

  The anterior uveitis resolved with standard treatment and the acuity recovered to 6/6. She presented again 2 months later with severe anterior uveitis, again responding quickly to conventional treatment. [nature.com]

  MWS is another cause of Acute Anterior Uveitis. The overproduction of IL-1β can give rise to inflammation in some parts of the body. The symptoms tend to worsen at night. [hxbenefit.com]

  uveitis. ( 17277755 ) Shakeel A....Gouws P. 2007 48 A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. ( 17486372 ) Dalgic B....Cuisset L. 2007 49 Diagnosis of Muckle-Wells syndrome - 33 years later. ( 18061973 [malacards.org]

• Conjunctival Hyperemia

  CASE 3 Male patient, aged 20, presents episodes of urticaria, conjunctival hyperemia (Figure 5) and arthralgia in the knees, since early infancy, that gets worse with exposure to the cold. [scielo.br]

• Headache

  Additional features include severe chronic fatigue, recurrent headaches, cognitive impairment, ocular involvement (conjunctivitis, uveitis, episcleritis), oral aphthosis, lymphadenopathy, thoracic and abdominal pain. [orpha.net]

  The fever can be periodic, and is associated with flare-ups of CAPS symptoms, including: rashes, joint pain, headaches and eye inflammation. [autoinflammatory.org]

  1962 (2) present with recurrent attacks of rash, fever, arthralgias, and conjunctivitis disease is typically not triggered by exposure to cold develop more severe ocular and central nervous system (CNS) symptoms including uveitis, episcleritis, and headaches [gpnotebook.com]

• Dizziness

  Vertigo (dizziness or loss of balance) has been noted as a side effect, specifically in patients with deafness as well. 4 The cost of a yearly treatment would approximate to $96,000 per patient.7 Since it is an autosomal dominant disorder, there is a [rarediseasereview.org]

  Call your healthcare provider right away if you have any of these symptoms of an allergic reaction: rash, itching and hives, difficulty breathing or swallowing, dizziness, or feeling faint. risk of infection with live vaccines. [ilaris.com]

  Adverse effects include headache, dizziness, nausea, injection-site reactions, respiratory tract infection, rhinitis, sinusitis, positive antinuclear antibodies (ANAs) and anti–double-stranded DNA antibodies, rash, abdominal pain, dyspepsia, vomiting, [emedicine.medscape.com]

• Somnolence

  1 De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. ( 29922587 ) 2018 2 Resolution of unilateral sensorineural hearing loss in a pediatric patient [malacards.org]

The clinical workup consists of an evaluation of the overall clinical presentation, a thorough history including that of the patient's family, a physical examination, and relevant studies.

Laboratory tests

Diagnosis of MWS is definitively proven through genetic testing that reveals the NLRP3 mutation. However, the mutation is not always present in individuals with MWS.

There are numerous abnormal studies in patients with acute episodes. The nonspecific findings include an increase in the erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and SAA, which are collectively considered to be acute phase reactants. Additionally, the complete blood count depicts leukocytosis and anemia of chronic disease. Finally, the cerebrospinal fluid (CSF) may demonstrate the presence of neutrophils and eosinophils in the absence of infection.

Special consideration

The workup should be tailored to evaluate the complications associated with MWS. For example, an audiogram is useful to assess the progressive sensorineural deafness. Additionally, a renal biopsy and an evaluation of the urinary protein should be performed to detect the presence of amyloidosis. Note that an initial sign of amyloidosis is proteinuria without red or white blood cells.

• Hypocalciuria

  The routine urine-test diagnosed hypocalciuria. Histopathological exams of the skin showed only chronic dermatitis. Genetic studies showed normal karyotype and the research on chromosome breakage was negative. [scielo.br]

The main therapeutic approach for MWS and other CAPS diseases is the inhibition of IL-1 especially in patients with an earlier onset and more severe manifestations [9]. It is paramount to initiate treatment early in order to control the risk of developing hearing loss [8] and amyloidosis.

The IL-1 antagonist known as Rilonacept is a dimeric fusion protein that is FDA approved for MWS patients 12 years and older. Another drug in the same category, Kineret, is not FDA approved yet for MVS but has demonstrated success in many MWS patients. Overall, IL-1 inhibitors are associated with a good prognosis as they reduce the risk for developing sensorineural deafness.

Another medication used in children and adults with this disease is Canakinumab, an FDA-approved monoclonal antibody against IL-1β. This drug elicits good control in patients but may require dose adjustments throughout treatment [10].

Other

Hearing loss can be improved with hearing aids and other similar medical technologies.

Arthralgia and arthritis can be alleviated with non-steroidal anti-inflammatory drugs (NSAIDS). Moreover, corticosteroids administered in high doses can be useful but they place the patients at risk for adverse effects both in short and long-term.

If present, renal failure secondary to amyloidosis will be managed accordingly.

Progressive deafness and renal failure are serious complications in this disease. However, the prognosis is promising in those treated with IL-1 inhibitors. Specifically, sensorineural deafness responds well to this class of drugs [9]. Additionally, therapy with IL-1 antagonists can decrease the risk of amyloidosis as untreated individuals have a 25% risk of developing this sequela. Since amyloidosis nephropathy is associated with mortality, early recognition and treatment are essential.

The etiology of MWS is attributed to mutations in the NLRP3 gene (found on chromosome 1), which is transmitted in an autosomal dominant pattern. This gene codes for the cryopyrin protein [3], which is a component of the NLRP3 inflammasome along with procaspase 1. The NLRP3 inflammasome plays a key role in the activation of caspase 1, which induces the cleavage of pro-IL-1β to produce IL-1β [4]. The latter is released from cells. In this disease, there is an occasional excessive production of IL-1β that accounts for the acute inflammatory attacks consisting of fever, rash, conjunctivitis, and musculoskeletal involvement.

The prevalence of CAPS is approximately 1 per population of 400,000 [5].

The CAPS are caused by a mutation in the NLRP3 gene, which codes for cryopyrin, a protein with an integral role in the regulation of inflammation and apoptosis. This mutation activates the NLRP3 inflammasome [6], which stimulates a series of cellular mechanisms that ultimately release inflammatory cytokines such as IL-1. The latter is spontaneously secreted by macrophages in these patients [7].

IL-1 has numerous functions which include increasing the production of serum amyloid A (SAA) by the liver. SAA can deposit in organs such as the kidneys, resulting in amyloidosis and amyloidosis-induced renal failure.

Another severe sequela arising from MWS is bilateral sensorineural hearing loss secondary to chronic inflammation mediated by IL-1 in the cochlea [8].

There are no preventative measures for MWS since it is an inherited disorder. But patients and their family members planning on starting families can seek prenatal care to gain understanding about what MWS entails, the probability of transmitting the disease, and further details. Additionally, genetic testing may be offered in appropriate cases.

Muckle Wells Syndrome (MWS), also referred to as urticaria-deafness-amyloidosis syndrome, is a rare autosomal dominant disorder that falls within the spectrum of hereditary periodic fever diseases [1]. Furthermore, this autoinflammatory condition is the moderate form of three clinical phenotypes that comprise the cryopyrin-associated periodic syndromes (CAPS). The two other phenotypes are known as familial cold autoinflammatory syndrome (FCAS) (mildest) and chronic infantile neurologic cutaneous articular syndrome (CINCA syndrome) or neonatal-onset multisystem inflammatory disease (NOMID) (most severe) [2]. The mutation responsible for CAPS involves the NLRP3 gene, which encodes cryopyrin. This is a pivotal protein in the pathway that synthesizes interleukin-1β (IL-1β), which is the cause of the clinical features observed in CAPS patients.

The symptomology of MWS is characterized by recurrent episodes of fevers, urticaria, headaches, and inflammatory signs such as arthralgia and ophthalmic manifestations including conjunctivitis and uveitis. The onset of MWS occurs in infancy or childhood. Serious complications include progressive bilateral sensorineural hearing loss and amyloidosis with the latter leading to nephropathy. These attacks typically last less than 36 hours.

The clinical assessment consists of the individual's personal and family history, a physical exam, and appropriate studies. The confirmatory diagnostic tool is the genetic detection of the mutation in the NLRP3 gene. Other tests include the measurements of the acute phase reactants, which are typically abnormal during the flare-ups. Additionally, an audiogram is important as is an evaluation of amyloid nephropathy with renal biopsy when indicated.

MWS (and other CAPS) is treated with IL-1 inhibitors, which is successful in controlling the progression of hearing loss and lowering the risk of developing amyloidosis. Additionally, there is a monoclonal antibody that is effective in treating MWS. Furthermore, there are other measures that can be used for symptom relief. Finally, genetic counseling is available for patients and their family members who desire to start families.

What is Muckle Wells syndrome?

Muckle Wells syndrome (MWS) is a genetic disorder, in which the affected individuals experience repeating flare-ups of fever, non-itchy rash, and joint pain/swelling along with eye problems. These episodes can occur randomly, but they also may be triggered by cold temperatures. They usually last less than three days but may continue for up to five days.

Who is affected by MWS?

This disease begins in young infants and children. It occurs because of a mutation in the NLRP3 gene that produces a protein called cryopyrin. This mutation ultimately causes an excessive production of a protein called interleukin-1β, which is responsible for the inflammatory symptoms seen in these patients.

MWS is inherited in an autosomal dominant pattern, which means that the patient receives one bad copy of the gene from the affected parent and one good copy from the nonaffected parent. To explain further, the affected patient has 50% chance of passing this disease to offspring.

What are the signs and symptoms of MWS?

The following are the main features of the flare-ups:

• Fever (mild to moderate)
• Hives
• Joint pain and swelling
• Chills
• Inflammatory conditions of the eye such as conjunctivitis and uveitis
• Headache

Complications of MWS include:

• Hearing loss in both ears due to continued damage to the nerves: this begins in early adolescence
• Kidney failure due to amyloidosis, which is the abnormal accumulation of amyloid protein in the kidneys
• Skin discoloration

How is MWS diagnosed?

The clinician will obtain the personal and family history of the patient, perform a physical exam, and run important tests. The genetic test that confirms MWS reveals the mutation in the NLRP3 genes. However, not all patients have this mutation.

Patients with MWS will have abnormal laboratory tests during their flare-ups. For example, they have an increased number of white blood cells as well anemia of chronic disease. Also, they have increased erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and serum amyloid A (SAA).

Other important studies for MWS patients include an audiogram to test for the progressive loss of hearing. Also, a urinary protein test and renal biopsy can assess for amyloidosis.

How is MWS treated?

The main treatment for MWS includes a class of drugs known as interleukin-1 inhibitors, which block interleukin-1. Two examples are Rilonacept and Kineret. These produce good results and decrease the risk of the patient developing hearing loss.

There is another drug known as Canakinumab, which acts as an antibody against interleukin-1.

Note that non-steroidal anti-inflammatory drugs (NSAIDS) are effective for joint pain and swelling. Also, corticosteroids are helpful but they are associated with side effects.

Finally, patients with hearing loss will benefit from hearing aids.

What is the prognosis?

Treatment with interleukin-1 blockers yields good results in patients.

Can it be prevented?

Since this is a genetic disease, it cannot be prevented. But affected individuals and their family members may obtain genetic counseling to gain an understanding about the disease and learn about the chances of passing it to an offspring. Also, genetic testing may be offered as well.

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