PFAPA syndrome is a disease that typically occurs in children with severe episodes of fever and certain accompanying symptoms. Since fever is a common symptom in pediatric practice, the differential diagnosis is considered difficult. What exactly triggers the fever episodes in childhood PFAPA syndrome is still unknown.
What is PFAPA Syndrome?
The main symptom of the PFAPA syndrome is relapsing, so-called recurrent fever in infancy. These bouts of fever, which recur at seemingly regular intervals, result in parents taking their child to a pediatric practice. See AbbreviationFinder for abbreviations related to PFAPA.
The pediatrician suspects the presence of a PFAPA syndrome, for example, if the parents can already name specific times for the next occurrence of a fever attack in a seizure-free interval. Since febrile conditions in the pediatric practice often occur without any apparent reason from the medical history or other clinical symptoms, the differential diagnosis is quite difficult.
Numerous examinations are therefore required in the sense of an exclusion diagnosis so that the presence of a PFAPA syndrome can be confirmed or not. Although the flare-ups with a high temperature of up to 40 degrees Celsius can be very frightening for the parents, it is known that the PFAPA syndrome is benign, i.e. benign, and that no late damage or late effects are to be expected. With increasing age, the fever attacks can disappear completely and then do not appear again in the course of further life.
PFAPA syndrome is considered a rare pediatric disease. Nevertheless, it must be assumed that a not inconsiderable percentage of sick children are not correctly diagnosed. On the one hand, this is due to the unspecific, feverish course of the disease, but on the other hand, it is also due to the cause that has not yet been clearly identified.
The PFAPA syndrome was first described in 1987 in the USA as a fever of unclear origin in children. According to the current state of knowledge, the further physical and mental development and also the growth of the children is not influenced by the occurrence of a PFAPA syndrome.
However, clear signs of inflammation and also so-called autoantibodies can be found in the blood of the affected children during the fever episodes. Experts therefore assume today that the PFAPA syndrome is an autoimmune disease. That would also explain the intermittent fever.
However, it is not known exactly against which endogenous structures autoantibodies are formed, which in turn lead to the formation of immune complexes and thus to an inflammatory defense reaction of the body. The genetic information also plays a role in the development of the disease. Today it must be assumed that the PFAPA syndrome is a genetic disorder of immune regulation.
Symptoms, Ailments & Signs
The main symptom of the disease is recurrent, intermittent fever, which occurs suddenly and in paroxysms. The early onset is also typical, mostly in children who have not yet reached the age of five. The time intervals between the fever episodes are usually completely symptom-free.
In the meantime, further series of examinations have established three key symptoms, in addition to fever, of the PFAPA syndrome. These include gingivitis, stomatitis, pharyngitis, pharyngitis and associated swelling and inflammation of the cervical lymph nodes, lymphadenitis.
In more than two thirds of all patients with PFAPA syndrome, these three main symptoms were present in addition to the fever. Additional complaints and signs of the disease appear in the form of non-specific abdominal and muscle pain and skin rashes that can manifest anywhere on the body.
In children who show these skin symptoms in connection with the fever, misdiagnoses can occur particularly frequently. In an acute fever episode, the typical signs of inflammation such as leukocyte proliferation, reactive shift to the left and increased blood cell lowering speed, ESR, can be regularly detected in blood tests in the laboratory.
Diagnosis & course of disease
The suspected diagnosis is initially made on the basis of the main clinical symptom, recurrent fever, together with the various accompanying symptoms. Pharyngitis, stomatitis, as well as cervical lymphadenitis can be diagnosed by inspection and palpation. Laboratory tests are required to confirm the diagnosis.
The classic course of the disease is that the fever flares occur at a chronological rhythm of two to twelve weeks and last about five days each. Overall, the course of the disease is benign despite the drama, so that late effects do not have to be expected. In addition, it is not uncommon for spontaneous remissions to occur after the age of 10, i.e. the abrupt and permanent absence of symptoms.
The children affected by the PFAPA syndrome primarily suffer from a very high fever. This fever occurs mainly in flares and can significantly reduce the quality of life of those affected. In many cases, this also results in a delay in the patient’s development. Furthermore, the PFAPA syndrome can also lead to problems with the teeth and inflammation of the gums.
It is not uncommon for those affected to suffer from inflammation in the throat and severely swollen lymph nodes. Pain in the abdomen or stomach can also make itself felt. Furthermore, the muscles hurt and the children suffer from rashes on the skin. The rashes can also lead to inferiority complexes or reduced self-esteem in children.
In some cases, PFAPA syndrome also leads to teasing or bullying. A direct treatment of this disease is usually not possible. With the help of medication, however, the relapses can be limited. There are no particular complications. However, it cannot be predicted whether the PFAPA syndrome will have a negative impact on the life expectancy of the affected person.
When should you go to the doctor?
The risk group of the PFAPA syndrome includes children and infants. If your fever breaks out repeatedly and in bouts, the symptoms should be clarified by a doctor. A particularly high fever must be examined by a doctor. Life-threatening conditions can occur and there is a risk of consequential damage developing. Therefore, consultation with a doctor is necessary. Spontaneous healing often occurs, followed by another sudden flare-up of fever. To ensure that the child is well and adequately cared for in these phases, the parents should seek comprehensive information from a doctor.
The characteristic feature of the PFAPA syndrome is the sudden onset of the symptoms. There are no warning signs or notices beforehand that could be taken into account. In the case of inflammation, discomfort in the mouth and throat, and changes in the complexion, the child needs medical help. If there is abdominal pain or disorders of the muscular system, the symptoms should be discussed with a doctor.
Swollen lymph glands or swelling in the neck indicate a health problem. If the symptoms persist or increase in intensity, a doctor is needed. Special care should be taken if there are rashes, open wounds or pus formation. If there is no sterile wound care, blood poisoning can occur. This is a life-threatening condition that requires rapid action.
Treatment & Therapy
A causal, i.e. cause-related therapy, is not yet possible for the PFAPA syndrome. All therapeutic attempts to prematurely interrupt the fever episodes and the accompanying symptoms are therefore symptomatic. In practice, it can be seen in particular that the symptoms respond neither to the administration of antibiotics nor to non-steroidal anti -inflammatory drugs. This also suggests that the PFAPA syndrome is not caused by bacteria.
However, the administration of cortisone, in particular the cortisone derivative prednisone, caused the flare-ups to disappear spectacularly within a very short time. This strengthened the suspicion that the PFAPA syndrome is a special form of an autoimmune disease. Therefore, high-dose cortisone administration as an infusion is the drug of choice.
Outlook & Forecast
The PFAPA syndrome, which occurs frequently in children, is a fever that often goes undetected. Most paediatricians do not recognize this disease. Regardless, the prognosis is not bad. The constantly recurring episodes of fever can last for several years. They are treated symptomatically and heal after a maximum of eight years. In rare cases, however, those affected still struggle with the after-effects of the PFAPA syndrome as adults.
PFAPA syndrome occurs in episodes with symptoms that are often not recognized as connected. Fever flares , throat and tonsillitis, aphthae in the mouth and swollen lymph nodes in the neck occur. In children, such symptoms are not suspicious. The PFAPA syndrome is usually misinterpreted as a consequence of a cold or tonsillitis and treated accordingly.
Since the symptoms soon disappear again, the real cause is not recognized. However, the same symptoms recur periodically over a period of five to eight years. After a single administration of a corticosteroid at the onset of fever flares, the fever goes away. The other complaints also disappear. The problem is that this only helpful therapy often has unpleasant consequences. Half of the patients treated in this way suffer from an aggravation of the symptoms of the disease for reasons that are still unknown.
The more frequently corticosteroid therapy is used, the more likely the frequency of fever flares will increase. These now occur once or twice a week.
According to the current state of knowledge, parents and doctors cannot do anything to prevent the disease from breaking out. In order to spare the affected children a path of suffering that often lasts for years because of the fever attacks, the PFAPA syndrome should be diagnosed as early and clearly as possible.
In the case of PFAPA syndrome, follow-up care measures are significantly limited in most cases, since the exact cause of the disease is not yet known. Therefore, parents and their children should consult a doctor at a very early stage in order to prevent further complications and symptoms. The sooner a doctor is consulted, the better the further course of the disease.
Most children are dependent on taking various medications. It is important to pay attention to the correct dosage in order to permanently relieve the symptoms. Above all, parents must monitor the intake of medication properly. If anything is unclear or if there are side effects, a doctor should be consulted immediately.
Regular check-ups by a doctor are also very useful in order to monitor the child’s condition over the long term. Affected children should rest and take care of themselves. In any case, efforts should not be made. As a rule, no further aftercare measures are necessary. With proper treatment, PFAPA syndrome usually does not reduce the patient’s life expectancy.
You can do that yourself
PFAPA syndrome initially requires drug treatment. This can be supported by various self-help measures. In addition, the patient should drink a lot. Hydration replenishes the body’s mineral stores and prevents dehydration. Two to three liters per day are ideal, with mineral water, herbal teas and diluted fruit juices being drunk.
High fever can be reduced with calf wraps. To do this, two towels are dipped in cool water and, after briefly wringing them out, wrapped around the calves. These measures should be applied three times a day. In general, care should be taken to ensure that the fever does not rise to 39.5 degrees Celsius or higher. If you have a high fever, you should inform your doctor. Home remedies are also not recommended for any accompanying symptoms such as headaches or body aches.
If the PFAPA syndrome is present, no sport should be played. The patient must recover from the fever completely and sleep a lot during the illness phase. It is just as important to avoid stress as irregular sleep and the consumption of stimulants. If the fever gets worse or is accompanied by unusual symptoms, the doctor must be informed.