Marco Cattalini, Head of Pediatric Rheumatology at the Pediatric Clinic, Spedali Civili di Brescia and Assistant Professor of Pediatrics at the University of Brescia, Italy, shares his insight on the signs of periodic fever symptoms and how to find the specialist treatment center that is fitting for your child’s needs.
This is a very good question on a relevant topic. The diagnosis of a periodic fever syndrome may be a challenge for physicians for three main reasons:
One of the main characteristics of periodic fever syndromes, from the mild to the more severe, is the recurrence of symptoms such as high fever. It is our experience that the attention of the family first and the referring physicians thereafter are indeed attracted by the recurrence of episodes that are identical. For this reason, if you suspect your child has an autoinflammatory disease one of the best things you can do is to keep a “fever diary.” It’s not unusual that when we first see a child with “recurrent fevers” and we cannot come to a definitive diagnosis, we ask the parents to come back in a matter of months (depending on the severity of clinical manifestations) with the fever diary completed. In this diary you should note:
It is also very important that you ask your pediatrician to visit your child every time he/she has a fever and to help you fill-in the diary with the precise signs associated with the fever.
During an attack your physician may ask for laboratory tests (complete hemogram, ESR, CRP, urine analysis), that may be useful to see if inflammatory markers (an indication of inflammation in the body) are high during fever attacks and to rule out infections (i.e., pharyngeal swab, urine culture). If your pediatrician suspects an autoinflammatory disease and there is a history of recurrent fever episodes with a high level of inflammatory markers during the attacks, it is also very important to take laboratory tests between the attacks, to see if the inflammatory markers normalize. One inflammatory marker that may be useful to check is Serum Amyloid A (SAA). Persistently elevated SAA levels may suggest a chronic inflammatory state, and it will be important to rule out a periodic fever syndrome.
If your diary shows recurrent episodes of systemic inflammation (i.e., fever, with elevated inflammatory markers and signs/symptoms of organ inflammation detected by your doctor) without evidence of bacterial origin, probably the most useful thing to do is to consult a physician with expertise on periodic fever syndromes for further work/up. (you can find a link to the Orphanet Directory of centers in the Links and Downloads section of this website)
This is a relevant question: indeed, periodic fever syndromes are very rare diseases and many physicians are not familiar with them. As specialized centers are not always easily accessible, a few strategies may help to optimize the care of every child with autoinflammatory disease:
Specialized centers can provide you and your primary care physician with all the information necessary to support you and your child. After a diagnosis is made:
As in all rare diseases, the parents of children with periodic fever syndromes usually feel isolated and helpless, even after the diagnosis. It is very important you understand that, although rare, there are other families facing the same difficulties, and people working constantly to help you and your child to have the best possible life. Keep in contact with them and help the community grow stronger.