Recurrent Fever Syndromes Flashcards
What is the definition of a recurrent fever syndrome?
≥3 episodes of unexplained fever in a 6 month period.
What is PFAPA syndrome?
Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis. It is a benign syndrome that occurs in children between the ages of 6 months and 7 years and has no known genetic cause.
Which recurrent fever syndrome does not have a known genetic abnormality?
PFAPA has no recognizable Mendelian inheritance pattern.
What is the natural course of disease in patients diagnosed with PFAPA?
Mean age of diagnosis is 3 years of age and the fever cycles generally stop recurring by the teenage years.
How does one make the diagnosis of PFAPA?
The diagnosis is made based on the fever pattern and physical exam findings. There are no laboratory tests to diagnose PFAPA. Some children can manifest joint pain, abdominal pain, rash, headache, vomiting, or diarrhea in addition to the stomatitis/pharyngitis/adenitis.
What is the typical periodicity associated with the fevers in PFAPA?
The periodicity is usually ~4 weeks, with fevers lasting from 5-7 days.
How might one differentiate between PFAPA and familial Mediterranean fever based on the fever’s characteristics?
The fever typically lasts longer in PFAPA than in FMF. PFAPA fevers last ~5-7 days, while FMF fevers vary but can last from several hours to 5 days.
How is PFAPA managed?
PFAPA responds quickly to prednisone (1 mg/kg/dose x 3 doses given 12 hours apart). However, the interval to the next episode can decrease with steroid use, so the decision to treat usually depends on whether the symptomatology is interfering with the family’s work or school routines.
What is the inheritance pattern for familial Mediterranean fever?
Autosomal recessive
Within memebers of which (4) ethnic groups is familial Mediterranean fever usually seen?
Armenians, Turks, Levantine Arabs, and Sephardic Jews.
Where is the gene responsible for familial Mediterranean fever? What is the product of the gene?
The responsible gene is MEFV, which is located on chromosome 16. The product of this gene is an amino acid protein called pyrin, which is responsible for the regulation of PMN inflammatory response and biochemically interacts with TNF, IL-1, and other cytokines.
At what age to patients typically present with familial Mediterranean fever?
Children usually present with symptoms before 10 years of age.
What (9) symptoms are typically associated with familial Mediterranean fever?
Fever, severe abdominal pain, pleuritis, pericarditis, scrotal swelling, erysipelas-like rash around the ankles, arthritis, arthralgia, and myalgia.
What is the typical fever pattern in patients with familial Mediterranean fever?
Most children have attacks of fever that can last several hours to 5 days. The fever typically recurs in predictable cycles which are unique to each patient.
How do you diagnose familial Mediterranean fever?
Clinical pattern, family history, and response to colchicine. Labs are nonspecific, but ESR, CRP, fibrinogen, and WBC counts are usually high during flares and normal otherwise. Genetic testing is diagnostic in >50% of patients, but not all gene defects have been identified.
