Periodic Fever Syndrome

Periodic fever syndrome is a genetic condition.  This condition usually is present in younger children.  There are different types of periodic fever syndrome. In all types of periodic fever syndrome, a person will experience a fever episode that is accompanied by other symptoms.  Symptoms are different for each person, but usually stay the same from episode to episode. The two most common different types of periodic fever syndrome are Familial Mediterranean fever (FMF) or Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA).  No matter what type of periodic fever syndrome you suffer from there is no cure. The goal is to treat the symptoms and alleviate the discomfort of those during episodes. The fever from this syndrome is not contagious, and it is not caused by a virus or bacteria.

Most periodic fever syndrome types occur during childhood.  Some can start as early as two years old while others may not become present until age ten.  Most types though if you are going to have them will be present before the age of twenty. Your child’s doctor will have to do a lot of different tests to diagnose.  Since symptoms are different between every child it is hard to diagnose this easily. Your doctor will start with a physical exam. Your pediatrician may refer you to a rheumatologist to help with the diagnosis.  After the initial physical exam, your doctor will want to go over your family’s medical history. Some types of periodic fever syndrome are caused by ethnicity, so it is important to be completely open and honest with your doctors.  A blood test may be ordered to test for inflammation in your system, specifically an elevated white blood cell count. A genetic test may be done as well, but this would only be done along with other tests. A genetic test alone would not be enough to diagnose.  

There are a few factors that can cause periodic fever syndrome.  The main factor that seems to be the majority cause of the syndrome is a gene defect.  Another factor is the clinical features of the syndrome, such as having these periodic fever episodes lasting the same length of time each episodes, and presenting with the same symptoms each episode.  Other things that can factor are the parts of the body that are affected by the fever, age of the child when the symptoms first appear and ethnicity. All of these factors will help your doctor determine which type of periodic fever syndrome your child may have.  

FMF – Familial Mediterranean Fever

One of the most common types of periodic fever syndrome is FMF, or familial Mediterranean Fever.  This is a genetic disorder caused by a recessive gene most commonly found in people of Meditterean or Middle Eastern descent.  Most symptoms will be present before the age of twenty, but almost 50% of people with this syndrome will show symptoms before the age of ten.  The fever with this type is not contagious and the fever episodes will last between one and four days. The length of each episode will be the same and the symptoms that are present for each episode will be the same each time as well.  This isn’t curable. Though it is manageable. A child with this type of periodic fever syndrome will be able to live a normal life and have a normal life expectancy. Episodes can be so frequent that they can get in the way of school attendance.  In rare cases when the episodes are so frequent the child may not be able to recover fully in between, which may lead them susceptible to catch a virus or bacterial infection. If left completely untreated though this syndrome can cause organ failure to occur.  So you will want to make sure you see a doctor if you suspect your child has this.

Symptoms most common with this type of periodic fever syndrome are fever episodes including abdominal pain, join pain, chest pain, and joint swelling. Swelling in the joints is most common in the ankle or knee.  Though some people will present with all these symptoms you can have a combination of them. Keep track of what your symptoms are so you can track that with each episode the symptoms are the same. Your doctor may prescribe you to take Colchicine, which is an anti-inflammatory drug. Some people have found that using the Colchicine has decreased their symptoms, while others have seen that it eliminates their fever episodes completely.  In some cases though people have noticed that it makes no difference at all. 

PFAPA – Periodic fever, aphthous stomatitis, pharyngitis, and adenitis

The second type of periodic fever syndrome that is most common is PFAPA or Periodic fever, aphthous stomatitis, pharyngitis, and adenitis.  This is a type of periodic fever syndrome that presents with the fever episodes with mouth sores and a sore throat, sometimes with the white bumps that usually indicate strep throat.  This type can sometimes be misdiagnosed as strep throat. PFAPA is not contagious. Some kids along with the mouth sores and sore throat may have joint pain, abdominal pain, headache, vomiting or diarrhea.  Like the other types of periodic fever syndrome there is no cure for this type. The main goal is to control the symptoms. A child with PFAPA will present symptoms as early as age two to four. This type unlike FMF, is not related to a genetic disorder.  The known cause of it at this time is unknown. This type is categorized as one of the most common forms of the syndrome though there isn’t a percentage of how many people suffer from it because of how easily misdiagnosed it is. If your child presents the symptoms early in childhood after they reach ten years old kids may grow out of the syndrome.  Where either the fever episodes become extremely less frequent or cease to happen at all. Doctors will diagnose this type of periodic fever syndrome the same as the others, though there is no specific treatment for this. LIfe expectancy is normal with this syndrome. 

Periodic fever syndrome is a very hard disease to diagnose.  Everyone’s symptoms can be different and the time between each episode is different as well.  It is almost up to the parents to keep track of how long your child presents with a fever of unknown cause, and then see if another episode presents with the same fever length and symptoms.  That will help your doctor narrow down the likelihood of periodic fever syndrome. Once diagnosed though your doctor will come up with a treatment plan to either help get rid of the fever episodes or to help control the symptoms so your child does not