This syndrome is characterized by the presence of rash, episodic fever and joint pain. The people with this syndrome have recurrent flare-ups that may be triggered by heat, cold, fatigue or stresses. In some of the cases, the affected individuals present progressive hearing loss and amyloidosis which is the abnormal accumulation of the protein amyloid that can damage the kidney resulting in kidney failure. As this is a rare disorder, the exact prevalence of this condition is not known.
Causes
A genetic mutation in the gene identified as NLRP3 is responsible for the development of this syndrome which produces a protein called cryopyrin. This protein is involved in the immune system that is essential for the regulation of inflammation which occurs when the immune system sends signals to the site of damage to fight off infections and to repair the affected tissue. The body then stops the inflammatory response to stop the damage occurring to its own cells and tissues. The genetic mutation results in a hyperactive cryopyrin protein and the inappropriate inflammatory response by the body. This syndrome is normally inherited in an autosomal dominant pattern meaning a single copy of the defective gene in each cell can cause this condition.
Symptoms
The common features of this condition include the development of rashes during infancy, periodic fever, joint pains, eye inflammation with flares, hearing loss and amyloidosis. The rashes that occur during early infancy are often evident all over the body. Moderate to low-grade temperature can often occur which starts in early infancy. The fever along with the other symptoms can last for a few days which may be triggered by cold temperatures, stress and exercise. Joint pains are often present although no cartilage or tissue changes have been apparent in the x-rays. The eye inflammation known as conjunctivitis is a recurrent condition, particularly during flare-ups. The hearing loss can develop in early adolescence which can be profound. Amyloidosis can develop life-threatening complications as the result of a long-term accumulation of amyloid protein products.
Diagnosis
The diagnosis of this disorder is possible with the evaluation of the affected individual’s symptoms and with the identification of the characteristic features. In some cases, the genetic mutation responsible for the development of this condition can be identified with the molecular genetic testing although not all cases presents genetic mutation in NLRP3 gene.
Treatment
The treatment includes the use of non-steroidal anti-inflammatory medications that are used to provide relief from the joint pain. The best treatment is the use of Interleukin-1 blocker. In the case of hearing loss, the hearing aids may be required. In some of the cases, genetic counseling may be beneficial for some of the affected cases and their family members.
References
https://ghr.nlm.nih.gov/condition/muckle-wells-syndrome#statistics
https://rarediseases.info.nih.gov/diseases/8472/muckle-wells-syndrome
https://rarediseases.org/rare-diseases/muckle-wells-syndrome/
http://autoinflammatory.org/mw.php