If you or your child has unexplained fevers it’s almost a certainty you have ready about periodic fever syndromes (PFS). Nearly all have an identified genetic link (except PFAPA – only a possible link).
Periodic fever syndromes are rare fever disorders categorized as autoinflammatory disease. The body responds as if there are foreign germs and triggers an inflammatory response. However, there are no germs to fight and only inflammation occurs. This inflammation is seen in a fever, as well as other symptoms like joint pain, rashes, mouth sores, patches on the tonsils and more. The immune system doesn’t remember the response and creates no antibodies against itself. It’s just the response occurring repeatedly at various intervals over time (depending on which PFS the child has).
Familial Mediterranean Fever – FMF
This is the most well-known PFS. The genetic mutation is the MEFV gene and there is a test that can be done to see if your child has this mutation. The genetic testing will help provide a differential diagnosis from FMF and other PFS. Both parents must carry this genetic mutation in order for their child to have it.
Fever episodes can last 12-72 hours. They are often accompanied by joint pain, swollen joints, and abdominal pain. FMF patients can suffer from pleurisy (lining of the lungs inflamed), pericarditis (heart lining inflamed), and amyloidosis (kidney issue).
Blood work can help identify FMF. The gene mutation can confirm a diagnosis, but early blood work during episodes shows raised ESR, CRP, and white blood count. An amyloid evaluation should be done to be sure the kidneys are safe and healthy.
Current treatment consists of a medication called colchicine. This medication is also used to prevent flares of gout (an autoimmune disorder). It is thought to work for FMF by decreasing the protein amyloid A.
TNF Receptor Associated Periodic Fever Syndrome – TRAPS
This is the second most commonly diagnosed PFS (over 1000 patients with diagnosis worldwide). The most commonly diagnosed is PFAPA. The genetic mutation identified with TRAPS is the TNFRSF1A gene. This is seen more commonly with a diagnosed parent who also has TRAPS. There is rarely an asymptomatic parent.
Most episodes begin by 3 years old. The variation of episodes is from every six weeks to every few years. Some patients may not develop symptoms until they are adults. Flares can last for several weeks with fevers for days. Other symptoms include a rash that moves over the body, conjunctivitis, and swelling around the eyes. There can also be joint pain, mouth inflammation, and pericarditis.
Amyloidosis is another possible symptom and complication of TRAPS. It’s important to have an evaluation done to be sure the kidneys are healthy with no amyloidosis.
A variety of medications can be tried for treatment. Some are used for other autoimmune diseases to block the inflammatory process. They include NSAIDS, steroids, and other specific drugs used for arthritis and other autoimmune disorders.
All PFS are rare. Some are more rare than others with only a few hundred people in the world with the syndromes. We will be talking about HIDS and Muckle-Wells next week.
Whether your child’s PFS is the most common or the most rare it’s difficult to find support and others out there. Please share here and comment. We would love to hear from you.