What is the PFAPA syndrome?
The main symptom of the PFAPA syndrome is a recurrent, so-called recurrent fever in infancy. These fever episodes, which occur again and again at apparently specific intervals, cause parents to go to a pediatric practice together with the child.
For the pediatrician, for example, suspicion of the presence of a PFAPA syndrome arises when the parents can already give specific times for the next onset of fever in a seizure-free interval. Since feverish conditions in the pediatric practice often arise for no apparent reason from the anamnesis or other clinical symptoms, the differential diagnosis is quite difficult.
Thus, numerous examinations are necessary in the sense of an exclusion diagnosis, so that the presence of a PFAPA syndrome can be confirmed or not. Although the fever episodes with high fever up to 40 degrees Celsius can be very frightening for the parents, it is known that the PFAPA syndrome benign, so it is benign and no late damage or long-term consequences are to be expected. With increasing age, the fever episodes can completely disappear and then do not reappear in the course of further life.
The 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. This is partly due to the nonspecific feverish course of the disease, on the other hand but also on the not yet clearly identifiable cause.
The PFAPA syndrome was first described in 1987 in the United States as a fever of unclear genesis in children. The further physical and mental development as well as the growth of the children is, according to the current state of knowledge, not influenced by the occurrence of a PFAPA syndrome.
In the blood of the affected children, however, clear signs of inflammation and so-called autoantibodies can be found during the fever episodes. Experts therefore today assume that the PFAPA syndrome is an autoimmune disease. That would also explain the relapsing fever.
However, it is not known against which endogenous structures exactly autoantibodies are formed, which in turn then lead to the formation of immune complexes and thus to an inflammatory defense reaction of the body. In addition, genetic information plays a role in disease development. Today it must be assumed that the PFAPA syndrome is a genetic disorder of immune regulation.
Symptoms, complaints & signs
The main symptom of the disease is recurrent, fever, which occurs suddenly and seizure-like. Also typical is the early onset, usually in children who have not reached the fifth year of age. The intervals between the fever episodes are usually completely symptom-free.
In the meantime, three further main symptoms, in addition to the fever, of the PFAPA syndrome have been established by further screening. These include gingivitis, stomatitis, inflammation of the throat, 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 symptoms and signs of the disease occur in the form of nonspecific abdominal and muscle pains as well as in the form of skin rashes that can manifest themselves all over the body.
In children who have these skin symptoms associated with the fever, it can often lead to misdiagnosis. In acute fever, blood tests in the laboratory can regularly detect the typical signs of inflammation, such as leukocyte proliferation, reactive left shift and increased blood cell lowering rate, ESR.
Diagnosis & disease course
The suspected diagnosis is first based on the clinical leading symptom recurrent fever together with the different concomitant symptoms. Pharyngitis, stomatitis as well as cervical lymphadenitis can be diagnosed by inspection and palpation. To confirm the diagnosis, laboratory tests are required.
The classic course of disease includes that the fever episodes occur in a time rhythm of two to twelve weeks and each last about five days. Overall, the course of the disease is benign despite the drama, so it does not have to be expected with long-term consequences. In addition, spontaneous remissions, that is the abrupt and permanent absence of symptoms, often occur after the age of 10 years.
Due to the PFAPA syndrome, the affected children primarily suffer from a very high fever. This fever occurs especially in spurts and can thereby significantly reduce the quality of life of those affected. In many cases, this also delays the development of the patient. Furthermore, the PFAPA syndrome can also lead to discomfort to the teeth and inflammation of the gums.
Patients also suffer from inflammation of the throat and swollen lymph nodes. Even pain in the stomach or stomach can be 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 the children.
In some cases, the PFAPA syndrome is also teasing or bullying. Direct treatment of this disease is usually not possible. With the help of drugs, however, the relapses can be restricted. There are no special complications. However, it can not be predicted whether the PFAPA syndrome adversely affects the life expectancy of the person affected.
When should you go to the doctor?
The risk group of the PFAPA syndrome includes children and infants. If a fever breaks out repeatedly and feverishly, the symptoms should be clarified by a doctor. Particularly high fever must be examined by a doctor. Life-threatening conditions can occur and there is a risk that consequential damage may develop. Therefore, consultation with a doctor is required. Often it comes to spontaneous healing and in the further course to a sudden sudden fever. In order for the child to be well and sufficiently cared for in these phases, the parents should be fully informed by a doctor.
The disease feature of the PFAPA syndrome is an abrupt onset of discomfort. There are no warnings or cues to consider. In case of inflammation, discomfort in the mouth and throat as well as changes of the skin picture the child needs medical help. If it comes to abdominal pain or disorders of the muscular system, the symptoms should be discussed with a doctor.
Swollen lymph glands or swelling of the neck indicate a health impairment. If the symptoms persist or increase in intensity, a doctor is needed. In case of rashes, open wounds or pus formation special caution is required. If no sterile wound care takes place, it can come to a blood poisoning. This is a life-threatening condition requiring rapid trade.
Therapy & Treatment
A causal, so cause-related therapy is not possible with the PFAPA syndrome until today. All therapeutic attempts to prematurely interrupt fever episodes and accompanying symptoms are therefore symptomatic. In particular, it can be seen in practice that the symptoms do not respond to the administration of antibiotics or nonsteroidal anti-inflammatory drugs. This also indicates that the PFAPA syndrome is not triggered by bacteria.
The administration of cortisone, in particular of the cortisone derivative prednisone, brought the fever episodes spectacularly disappeared within a very short time. This confirmed the suspicion that the PFAPA syndrome is the special form of an autoimmune disease. Therefore, the high-dose Cortisongabe as infusion is considered the drug of choice.
Outlook & Forecast
The frequently occurring PFAPA syndrome in children is an often unrecognized fever disease. Most paediatricians do not recognize this disease. Regardless, the prognosis is not bad. The recurring fever episodes can last for several years. They are treated symptomatically and heal after a maximum of eight years. In rare cases, however, those affected as adults still have to contend with the sequelae of the PFAPA syndrome.
The PFAPA syndrome occurs in bursts with symptoms that are often not recognized as contiguous. There are fever episodes, pharyngeal and tonsillitis, aphthae in the mouth and swollen cervical lymph nodes. In children, such symptoms are not suspicious. The PFAPA syndrome is usually misinterpreted as a cold episode or tonsillitis, and treated accordingly.
As the symptoms disappear soon, the true cause is not recognized. The same symptoms occur periodically over five to eight years again and again. After a single administration of a corticosteroid in incipient fevers, the fever goes back. Likewise, the other complaints disappear. The problem is that this only helpful therapy often has unpleasant consequences. Half of the patients treated in this way suffer an aggravation of the symptoms of the disease for unknown reasons.
The more often corticosteroid therapy is used, the more likely the frequency of fever increases. These occur now once or twice a week.
According to current knowledge parents and doctors can do nothing to prevent the onset of the disease. In order to spare the affected children an often years-long suffering due to the fever episodes, the PFAPA syndrome should be diagnosed as early as possible and clearly.
In the case of the PFAPA syndrome, follow-up measures are in most cases clearly limited, as the exact cause of the disease is not yet known. Therefore, the parents and their children should go to a doctor very early to prevent further complications and complaints. The sooner a doctor is consulted, the better the course of the disease.
Most children are dependent on the intake of various medications. It is important to pay attention to the correct dosage to relieve the symptoms permanently. Especially the parents have to properly monitor the intake of the medication. In case of ambiguity or side effects, a doctor should be consulted immediately.
Likewise, regular checks by a doctor are very useful to permanently monitor the condition of the child. The affected children should rest and look after themselves. Efforts are definitely foreseeable. As a rule, no further follow-up measures are necessary. With proper treatment, the PFAPA syndrome usually does not reduce the life expectancy of the patient.
You can do that yourself
The PFAPA syndrome requires first a drug treatment. This can be supported by various self-help measures. In addition, the patient should drink a lot. The fluid supply replenishes the mineral stores of the body and prevents dehydration. Ideal are two to three liters per day, with mineral water, herbal teas and diluted fruit juices should be drunk.
High fever can be reduced by calf wrapping. For this purpose, two towels are dipped in cool water and wrapped after a brief wringing around the calves. These measures should be used three times a day. In general, it should be ensured that the fever does not rise to 39.5 degrees Celsius or higher. In case of high fever, the doctor should be informed. Even with any accompanying symptoms such as headache or body aches, no home remedies are recommended.
When the PFAPA syndrome is present, no sports may be used. The patient must fully cure the fever and sleep well during the disease phase. Stress should be avoided as well as an irregular sleep and the consumption of stimulants. If the fever becomes worse or accompanied by unusual symptoms, the doctor must be informed.