What is Muckle Wells Syndrome?
Muckle-Wells Syndrome is a genetic condition which is caused by mutations in the CIAS1 gene. The main feature of this condition is frequent fever, rashes, and severe joint pains. At times, these symptoms of Muckle-Wells Syndrome tend to get exacerbated by cold weather or being in cooler areas. These symptoms can also be triggered by certain stimuli other than cold weather also. Progressive hearing loss is yet another common feature of Muckle-Wells Syndrome.
Amyloidosis is one of the complications of this condition in which excess amyloid which is a protein that accumulates in the body. If left untreated, this may damage the kidneys and lead to renal failure. Amyloidosis is a complication which develops much later in life of an individual with Muckle-Wells Syndrome.
What are the Causes of Muckle Wells Syndrome?
As stated, the root cause of Muckle-Wells Syndrome is the mutation in gene CIAS1. This gene is responsible for protein cryopyrin. As a result of the mutation, excess amount of the protein cryopyrin is produced. This protein is responsible for regulation of another protein called interleukin which is responsible for inflammation. An increase in interleukin results in increased inflammatory response causing the characteristic features like fever, joint pain, and rashes of Muckle-Wells Syndrome.
This condition follows an autosomal dominant pattern of inheritance meaning that one copy of the defective gene from either parent is enough for a child to develop Muckle-Wells Syndrome.
What are the Symptoms of Muckle Wells Syndrome?
Recurrent rashes which begin from early infancy along with intermittent fevers and severe joint pains are the prominent features of Muckle-Wells Syndrome. Additionally, the child may have conjunctivitis along with redness of the eyes and discharge from the eyes as well.
As the child grows he or she will tend to have progressive hearing loss as a result of Muckle-Wells Syndrome. Much later in life, the individual will have amyloidosis which if left untreated can lead to renal failure as a result of Muckle-Wells Syndrome.
Majority of the symptoms of Muckle-Wells Syndrome tend to get exacerbated by cold temperatures and most of the exacerbations last for 24 to 48 hours only to recur again as a result of Muckle-Wells Syndrome.
How is Muckle Wells Syndrome Diagnosed?
The diagnosis of Muckle-Wells Syndrome is made by looking at the presenting features of the patient along with certain specialized tests. A genetic test will be done which will clearly show mutation in gene CIAS1 gene which will confirm the diagnosis of Muckle-Wells Syndrome.
How is Muckle Wells Syndrome Treated?
The hearing loss that is caused by Muckle-Wells Syndrome can be treated with hearing aids while for joint pains NSAIDs are mostly preferred as a treatment for Muckle-Wells Syndrome.
High dose steroids have also been shown to be beneficial albeit with some undesirable side effects in some cases of Muckle-Wells Syndrome. Apart from this, treatment is only symptomatic for Muckle-Wells Syndrome. Arcalyst and Ilaris are some of the medications most preferred for treatment of Muckle-Wells Syndrome.
