PFAPA is My Guess

Before looking at Jakob's medical history I thought that he might have (HIDS). But after more research, my guess is (PFAPA) The following is a really good explanation if this condition. I googled Jakob's main symptoms and fell upon this:

This is from http://www.clevlandclinic.org/

Periodic Fever Syndrome
(Familial Mediterranean Fever (FMF), Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) , Hyperimmunoglobulin D syndrome (HIDS), also called Mevalonate Kinase Associated Periodic Fever Syndrome, Neonatal Onset Multisystem Inflammatory Disease (NOMID), in Europe called Chronic Inflammatory Neurological Cutaneous Articular (CINCA) syndrome and related diseases, Muckle-Wells syndrome and Familial Cold auto inflammatory syndrome and Periodic fever, Aphthous-stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome)
These syndromes refer to diseases that cause periodic (episodic) fever that do not have an infectious (virus, bacteria) cause. In general children with these syndromes are well between episodes. Many of these syndromes are hereditary (passed down from parents) and result from a mutation (defect or mistake) in a gene (this is the code that determines the structure of our proteins). The syndromes are defined by the gene defect as well as by the clinical features of the syndrome, the parts of the body affected in addition to fever, the age of the child when the syndrome starts, and the ethnicity (the area of the world where the child or parents come from) of the child and parents. Many of these syndromes have a specific treatment, often based on understanding the problem caused by the genetic defect.

Periodic fever, Aphthous-stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome This syndrome includes recurrent episodes of fever with aphthous-stomatitis (mouth sores), pharyngitis (sore throat with redness and sometimes a throat that has a white covering – exudate - like that seen in a throat with streptococcal infection. PFAPA affects children in early childhood, usually starting at age two to four years. Episodes usually decrease in frequency and resolve after the age of 10 years. This disease was recognized for the first time in 1987 and was called Marshall’s.

How common is it?
The frequency of PFAPA is not known, but the disease appears to be more common than generally appreciated.
What causes PFAPA? The answer to this question is not yet known. No gene defect has yet to be found in PFAPA, although in some cases more than one family member has the disease. No infectious cause has been found in PFAPA, thus it is not a contagious disease. It is clear that the inflammatory process is activated during episodes but it is not clear why it is triggered.
What are the main symptoms? The main symptoms are episodic fevers, accompanied by a sore throat, mouth ulcers, or enlarged cervical lymph nodes (glands in the neck, an important part of the immune system). The episodes of fever start abruptly and last for three to seven days. During episodes, the child looks very ill and complains about at least one of the three symptoms mentioned above. The episodes of fever recur every few weeks and often families know the exact day when an attack will start. On the day the fever starts the child will feel a little ill before the attack and the family knows an attack is about to start. Not all children have all symptoms, especially mouth sores. Some children have other symptoms like joint pain, abdominal pain, headache, vomiting or diarrhea.

How is PFAPA diagnosed?
There are no laboratory tests, or imaging procedures, specific for diagnosing PFAPA. The disease will be diagnosed based on the results of a physical examination and other symptoms. Inflammatory blood tests like the white blood cell count, erythrocyte sedimentation rate and the C-reactive protein are increased during attacks. Before the diagnosis is confirmed, it is important to exclude all other diseases that may present with similar symptoms (especially a streptococcal throat). The dramatic response to treatment (see below) also helps diagnose PFAPA.


How is PFAPA treated?
There is no specific treatment to cure PFAPA. The aim of treatment is to control symptoms during the episodes of fever, to shorten the duration of episodes, and in some children to prevent attacks from occurring. In most children, the disease will resolve by itself without treatment, usually after the age of 10 years. The fever does not usually respond well to Tylenol or nonsteroidal anti-inflammatory drugs. A single dose of steroids (usually prednisone), given when symptoms first appear, has been shown to shorten an episode and sometimes even end the episode. However, the interval between episodes may also be shortened with this treatment, and the next episode may occur earlier than expected. In some patients using cimetidine (a medicine that is used to treat stomach ulcers) may prevents attacks from occurring. In patients with very frequent attacks, a tonsillectomy (removing the tonsils by surgery) may be considered.

What is the outcome and course of PFAPA?
The disease may last for several years. Over time, the intervals between the episodes will increase and usually after the age of 10 years resolve by itself. Children with PFAPA continue to grow and develop normally.

Hyperimmunoglobulin D syndrome (HIDS), also called Mevalonate Kinase Associated Periodic Fever Syndrome HIDS is a autosomal recessive (which means that while the child is sick neither parent needs to show symptoms of the disease) genetic syndrome that results in episodic high fever with skin rash, swelling of lymph nodes (glands that are part of the immune system) in the neck, abdominal pain, vomiting and diarrhea. The disease starts early in infancy. The name of this disease comes from the fact that most patients have very high amounts of immunoglobulin (proteins that are part of the immune system) of type D. The most severe form of this disease starts at birth and is called mevalonic aciduria. These patients also have neurologic (nervous system) disease and suffer from poor growth. We will describe here the more mild form of this disease since it is only this form that starts with episodes of fever.
How common is it? HIDS is a very rare disease. The disease is mostly found in Western Europe, especially in the Netherlands and in France but has been described in all ethnic groups. Boys and girls are equally affected. Symptoms usually start in early childhood, most commonly in the first year of life.

What are the causes HIDS?
HIDS is a genetic disease. The gene defect is in a protein called mevalonic kinase (MVK). MVK is a protein that facilitates a chemical reaction in the body ( enzyme ) involved in the process of making cholesterol. In HIDS the MVK enzyme is active in only 1-10% of the normal enzyme activity. We still do not know why the gene defect causes fever. Episodes can be triggered by infection, stress, and vaccination or without any obvious trigger. HIDS is inherited in an autosomal recessive way (which means that while the child is sick neither parent needs to show symptoms of the disease). In that case, the child receives two mutated genes, one from the mother and the other from the father. The parents are then called carriers. Often somebody in the extended family has the disease. If one child has the disease and the parents are carriers there is a 25% chance another child will get HIDS.

Is it contagious?
No, the fever of HIDS is not contagious.
What are the main symptoms? Fever episodes are the major symptom, lasting three to seven days and recurring every 2-12 weeks. The attacks begin suddenly, often with shaking chills. Headache, abdominal pain, loss of appetite and flu-like symptoms are common. Most patients experience nausea, vomiting or diarrhea. Skin rashes, painful ulcers in the mouth and joint pain all occur, but the most striking feature is swelling of the lymph nodes in the neck, or other parts of the body. The disease symptoms and severity can differ from patient to patient.
How is it diagnosed? It usually takes a physician expert in this disease to diagnose HIDS. The disease is suspected in patients with the symptoms listed above. Blood tests showing signs of inflammation during an episode are usually seen. Most (but not all, especially very young patients) have elevated levels of immunoglobulin D. During episodes, a urine test for organic acid (these are acids in the body that have the carbon atom in them) will show high levels of mevalonic acid. The diagnosis will be confirmed by a genetic test finding the genetic defect in the MVK protein or by showing low levels of MVK activity in blood cells.
Can it be treated or cured? HIDS cannot be cured. An effective treatment to prevent attacks is not available. Research is being done to search for effective treatments. During an episode non-steroidal anti-inflammatory drugs (like ibuprofen, naproxen) or steroids may be partially helpful.

How long will the disease last and what is the outcome?
HIDS is a lifelong disorder but episodes usually get milder and less frequent over time, often resolving later in life. Some patients develop arthritis. Except for amyloidosis in very rare cases, HIDS does not lead to severe organ damage.