A Alsonbul

S Al-Mayouf

Pediatric Rheumatology

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Monogenic and multifactorial autoinflammatory diseases: Clinical and laboratory characterization in a pediatric Saudi population

POSTER PRESENTATION Open Access
Monogenic and multifactorial autoinflammatory
diseases: Clinical and laboratory characterization
in a pediatric Saudi population
S Al-Mayouf*, A Alsonbul
From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases
Dresden, Germany. 30 September - 3 October 2015
Objective
To report on the clinical and laboratory features of both
monogenic and multifactorial autoinflammatory diseases
in Saudi children.
Methods
This retrospective report comprised all children with auto-
inflammatory diseases treated at the Pediatric Rheumatology
Clinic at King Faisal Specialist Hospital and Research
Center, Riyadh, between January 2000 and December 2014.
Demographic characteristics, diagnosis, age at onset, disease
duration, follow-up duration, clinical features and laboratory
variables including genetic results if available, and treatment
were collected.
Results
A total of 75 patients (43 females) with various autoin-
flammatory diseases were included; consanguinity was
present in 45%. The mean age was 11.6 years with mean
age at onset of 2.7 years and mean disease duration was
8 years. Patients were diagnosed as follows: familial
Mediterranean fever (FMF) 19; chronic recurrent multi-
focal osteomyelitis (CRMO) 18; monogenic form of sys-
temic onset juvenile idiopathic arthritis (So-JIA) 14,
early onset sarcoidosis 7, familial Behect’s disease 5, per-
iodic fever, aphthosis, pharyngitis and adenitis (PFAPA)
4, CINCA 3. Five patients had periodic fever but with-
out definite diagnosis. Most of the cases were referred
with inaccurate diagnosis. FMF patients had the usual
manifestations but one patient had sacroiliitis. MEFV
genetic testing showed pathogenic mutations of M694V
gene in 12 patients while 7 patients had heterogonous
sequence variants. All FMF patients had favorable
response to colchicine. All CRMO patients presented
with bone pain and fever with elevated inflammatory
markers and abnormal radiographic findings. Biopsy
results were consistent with osteomyelitis, but cultures
were negative. All CRMO patients had favorable
response to treatment (16 treated with pamidronate and
3 patients required infliximab). Patients with So-JIA had
autosomal-recessive pattern on inheritance and whole-
exome sequencing identified a homoallelic missense
mutation in LACC1. Patients with early onset sarcoido-
sis had multi-organ involvement, diagnosis was proven
by histopathology with negative cultures and treatment
included prednisone, methotrexate and biologic agents.
Three PFAPA patients responded well to corticosteroid
and one patient underwent tonsillectomy. All CINCA
patients had a good response to IL-1 blocker.
Conclusion
Autoinflammatory diseases other than FMF may be
overlooked in our region. Increased awareness among
pediatricians is needed for timely and accurate diagnosis
and proper management. Association of LACC1 with
monogenic So-JIA justifies investigation of its role in
autoinflammatory disorders.
Published: 28 September 2015
doi:10.1186/1546-0096-13-S1-P160
Cite this article as: Al-Mayouf and Alsonbul: Monogenic and
multifactorial autoinflammatory diseases: Clinical and laboratory
characterization in a pediatric Saudi population. Pediatric Rheumatology
2015 13(Suppl 1):P160.
King Faisal Specialist Hospital & Research Centre, Pediatric Rheumatology,
Riyadh, Saudi Arabia
Al-Mayouf and Alsonbul Pediatric Rheumatology 2015, 13(Suppl 1):P160
http://www.ped-rheum.com/content/13/S1/P160
© 2015 Al-Mayouf and Alsonbul This is an Open Access article distributed under the terms of the Creative Commons Attribution
License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium,
provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/
publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.


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Monogenic and multifactorial autoinflammatory diseases: Clinical and laboratory characterization in a pediatric Saudi population

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