periodic fevers 10.04.2013
TRANSCRIPT
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MORNING REPORT
Chari Larsen, MD PGY-3October 4, 2013
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HPI
7yo healthy girl presents to your continuity clinic around February witcomplaints of fever for >12 days. Has consistently been >38.5 every dmultiple occasions each day. Parents are worried because the fevertoo long to resolve.
Has associated sore throat, fatigue, pallor, periorbital edema, decreaappetite, leg/foot pain, mouth sores, nasal sores, nausea, and episod
epigastric cramping abdominal pain. All of these symptoms started oof the fever and are persisting. She really has not been acting like hepretty grumpy.
Denies any joint swelling, congestion, cough, sneezing, tachypnea, rweight loss, vomiting, diarrhea.
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History
PMH: Term birth without complications. Sleep apnea. Likely anxiety. Seasona
PSH: Tonsillectomy and adenoidectomy
Medications: Levsin, peppermint oil, Tylenol and Motrin PRN, Zyrtec PRN
Allergies: NKDA
SH: Lives with parents and 3 siblings. 2 are adopted and 1 is a full biological sPatient was conceived using a donor egg (patient is unaware of this). She is grade.
FH: No chronic medical conditions including IBD, IBS, arthritis, autoimmune d
Immunizations: Up to date.
Development: No delays. Doing well in school.
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Physical Exam
Weight: 11.97kg; Height: 133.00cm; BP: 94/52, HR: 100, RR: 20, Temp: 99.1 GENERAL: DELANEY appears well and is cooperative with exam. HEENT: Conjunctivae and sclerae clear. PERRL. No synechiae. EOM's intact. Fund
exam normal. Mild periorbital edema. Normal External ears. TMs B/L. No nasal disright nare has a small, healing septal ulcer. MMM. No oral ulcerations.
NECK: No masses or thyromegaly. mild cervical LAD. RESP: clear to auscultatation B/L. Normal respiratory rate and effort, no wheezes CV: RRR. Normal S1, S2. No significant murmur. No gallop. No rub. No bruits appre ABD: Soft Nontender/Non distended. No Hepatosplenomegaly. GENITALIA: deferred. EXTREMITIES: Warm. Good capillary refill. Normal pulses all 4 extremities. No edem SKIN: no rash. NEUROLOGIC: No focal abnormalities. No adventitious movements. No ataxia. MUSCULOSKELETAL: Full range of motion of all joints without swelling or tendernes
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7yo girl with >12 days of fevers, abdominal pain, leperiorbital edema, pallor, fatigue, & mouth/nasal
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More History
Jump ahead to August
Family has been in to see you multiple times now for the same complaints. Fealways last 10-16 days with the same set of associated symptoms.
Have kept a fever journal which notes fevers in
November 2012
February 2013
Late March 2013 May 2013
July 2013
August 2013
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Differential Diagnosis
Infectious Disease
CMV/EBV
Osteomyelitis
FUO
Colitis
Myositis
Strep throat
Hematology/Oncology Leukemia
Lymphoma
Tumor NOS
Hemolytic anemia
Rheumatology
PFAPA
TRAPs
FMF
JIA
Growing pains
Bechets disease
CRMO Gastroenterology
Celiac disease
Crohn disease
Functional abdominal pain
Mesenteric adenitis
Constipation
Gastritis
Psychiatry
Anxiety
Malingering
School avoidan
Nephrology
Nephrotic syndr
CKD
Cardiology
Atypical KD/KD
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Work-up
5/13/13 FEVER
WBC 3.01 (3B/37S/48L/12M), HGB 13.6, PLT 128; ANC 1200, ALC 1400; ESR 4
7/13/13 NO FEVER
WBC 11.1 (40S/52S/5.6M/2E), HGB 13.5, PLT 290; ESR 0
CMP WNL, UA WNL
C4 29, C3 125, EBV & CMV negative, DNAse B
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Periodic Fevers
How many can you name?
Hint there are 8
How are these conditions classified?
Autoinflammatory syndromes
Group of inflammatory conditions caused bydysregulation of the innate immune system.
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PFAPA (Periodic Fever, Aphthousstomatitis, Pharyngitis, & Adenitis) Most common in North America
No known genetic association or inheritance pattern
Typically starts age 3-5
Episodes occur REGULARLY every 4-6wks and last for up to 5 days (not longe
Is SELF-LIMITED
May have (in addition to the things in the name) nausea, vomiting, abdominand headache.
Throat cultures consistently negative
Treatment: no consensus; single dose of steroids fairly effective, tonsillectomycimetidine
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Familial Mediterranean Fever (FM
Most common hereditary autoinflammatory disease
Autosomal recessive, mutation in the MEFV gene
Common in Arabic, Turkish, Armenian, and Mediterranean populatio
Fevers occur every 4-8wks and last for 1-3 days
Clinical hallmark is SEROSITIS (peritonitis, pleuritis, synovitis)
Also have erysipelas-like rash on shins and dorsum of feet, monoarthritis, m
Can develop RENAL AMYLOIDOSIS
Treatment: colchicine or Anakinra if colchicine resistentn
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TNF-Receptor Associated PeriodiSyndrome (TRAPS) Autosomal dominant, linked to mutation in TNFRSF1A gene that enco
TNF receptor
Age of onset ranges from childhood to several decades of age
Episodes last 3-4 WEEKS and occur at IRREGULAR intervals
Clinical findings include: migrating erythematous maculopapular rasspread from trunk to extremities, severe migratory myalgias associaterash, arthralgias, conjunctivitis, PERIORBITAL EDEMA, and severe abdopain
Treatment: steroid provide symptomatic relief but dont diminish the
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Hyperimmunoglobulinemia DSyndrome (HIDS) Rare
Genetic mutation in mevalonate kinase gene
>90% show symptoms within the 1st year of life
Fevers last 4-7 days and occur every 4-8 weeks
Clinical features: abdominal pain, vomiting, diarrhea, tender cervica
ulcers, arthralgias, large joint symmetric arthritis Have striking elevation of serum IgD and IgA during the fever episode
Treatment: NSAIDs and corticosteroids
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Cryoporin Associated PeriodicSyndrome (CAPS) Group of 3 diseases that are on a continuum of severity
All associated with genetic mutations involving NLRP3 gene encoding cryop
Onset in INFANCY
Familial Cold Autoinflammatory Syndrome (FCAS):
Develop fever, chills, and generalized non-pruritic urticarial skin lesions after exposu
Symptoms persist up to 24hrs
Risk of developing amyloidosis in adulthood
Muckle Wells Syndrome (MWS):
Generalized urticarial rash, arthralgias, myalgias, arthritis, and conjunctivitis
Frequent fever episodes lasting 24-48hrs
Progressive NEUROSENSORY HEARING LOSS emerges in adolescence
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CAPS cont.
Neonatal Onset Multisystem Inflammatory Disease (NOMI
Known as CINCA in Europe
Nearly clinical features that develop shortly after birth
Fever episdoes lasting 24-48hrs several times a week
Distinguishing feature: POOR GROWTH AND FTT
Clinical features: nearly constant generalized urticarial rash, aseptimeningitis, SNHL, optic nerve atrophy, intellectual disability, deformarthropathy, conjunctivitis, episcleritis, uveitis, papilloedema, LAD,
Poor long-term prognosis with high morbidity and mortality
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PFAPA FMF TRAPS FCAS MWS/NOMIDOnset 2-5yrs
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References
Goldsmith, DP. Periodic Fever Syndromes. Pediatrics in Review. Vol. 70, No. 5e41. May 2009.
A Residents Guide to Pediatric Rheumatology. 2011 Revised Edition. The HoSick Children. Pages 41-46.