Neonatal Onset Multisystem Inflammatory Disease (NOMID): Fact Sheet
TOPICS:
What It Is
Causes and Symptoms
NOMID Characteristics
Incidence and Prevalence
Living with NOMID
Diagnosis & Treatment
References
What It Is
Neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic cutaneous articular (CINCA) syndrome, is a rare, congenital, systemic, inflammatory condition distinguished by fever, joint disease, rash and central nervous system (CNS) disease. The hallmark of NOMID is onset during infancy or childhood.(1,2)
NOMID is the most severe form of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NALP3 gene. These syndromes are characterized by intermittent attacks of fever associated with rash and joint pain.(2,3)
Causes and Symptoms
About 60 percent of those who are diagnosed with NOMID have mutations in a gene identified as the cold-induced auto-inflammatory syndrome 1 (CIAS1) gene. The mutation in the CIAS1 gene causes increased activity of cryopyrin, a protein that regulates inflammation in the body. The increased activity of cryopyrin results in an overproduction of the protein interleukin 1ß, which leads to symptoms of inflammation such as fever and joint pain.(1,3)
NOMID Characteristics
In addition to fever, symptoms of NOMID involve the skin, CNS and joints. Skin rashes occur in all patients within the first six weeks of life and persist throughout their lives. CNS symptoms include chronic meningitis, mental retardation, seizures and sensory organ dysfunction, which results in vision and hearing loss. Joint inflammation leading to joint and bone deformities ranges in severity and typically begins in the knees. Enlargement of the knee-cap is also characteristic of NOMID.
Other symptoms include stunted growth, enlargement of the liver and spleen, an abnormal increase in the number of white blood cells, an elevation in levels of the protein amyloid A and C-reactive protein in the blood and an increase in the erythrocyte sedimentation rate, a blood test used to detect or grade inflammation. In addition, abnormal facial features can sometimes be seen.(2,3,4)
NOMID shares symptoms, and should not be confused, with juvenile idiopathic arthritis (JIA). High recurrent fevers, joint pain, deforming joint disease and rash are symptoms of both NOMID and JIA. However, NOMID is differentiated by the onset of skin disease at birth and a persistent rash. In addition, many patients with NOMID have nonspecific joint pain and enlargement of the knee-cap, while patients with JIA present with inflamed synovial joints, such as the shoulder or knee, increased production of fluid in the synovial joints and warm, swollen, stiff joints.(2)
Incidence and Prevalence
Since NOMID is a newly discovered condition, the actual incidence and prevalence of the disease is difficult to determine.
Living with NOMID
NOMID patients suffer from frequent, almost daily flare-up episodes which cause great discomfort, can be very debilitating, and may require medical assistance during the episodes. Some patients are unable to walk, or bear weight on their legs, due to joint damage, and/or pain. The majority of children with NOMID have cognitive and mental deficits, and/or learning disabilities, as well as vision and hearing loss. There is a 20 percent mortality rate before adulthood associated with NOMID.(5)
Diagnosis & Treatment
Diagnosis of NOMID is determined through an evaluation of a patient's symptoms and medical history. Confirmation of the diagnosis is achieved through genetic testing.
While there are currently no medications indicated for the treatment of NOMID, therapies that suppress the inflammation, including high-dose corticosteroids, disease-modifying antirheumatic drugs, and biologic agents are often used to treat the condition. These treatments tend to be only moderately effective, however, with inflammation persisting in most children. In recent clinical studies, investigational interleukin-1 inhibitors had encouraging preliminary results in addressing the inflammatory features of the conditions in study patients, but these product candidates have not been approved by the FDA for the treatment of NOMID.(3)