Macrophage Activation Syndrome and Familial Hemophagocytic Lymphohistiocytosis: Is Their Clinical Phenotype Really Similar?

Francesca Minoia¹, AnnaCarin Horne², Sergio Davì¹, Francesca Bovis¹, Silvia Rosina¹, Kai Lehmberg³, Sheila Weitzman⁴, Antonella Insalaco⁵, Carine Wouters⁶, Susan Shenoi⁷, Graciela Espada⁸, Seza Ozen⁹, Jordi Anton¹⁰, Raju Khubchandani¹¹, Ricardo Russo¹², Nicolino Ruperto¹³, Alberto Martini¹, Randy Q. Cron¹⁴ and Angelo Ravelli¹, ¹Istituto Giannina Gaslini, Genoa, Italy, ²Karolinska University Hospital Solna, Stockholm, Sweden, ³University Medical Center, Hamburg, Germany, ⁴The Hospital for Sick Children, Toronto, ON, Canada, ⁵Ospedale Pediatrico Bambino Gesù, Rome, Italy, ⁶University Hospital Gasthuisberg, Leuven, Belgium, ⁷Seattle Children's Hospital, Seattle, WA, ⁸Hospital de Ninos Ricardo Gutierrez, Buenos Aires, Argentina, ⁹Hacettepe University, Ankara, Turkey, ¹⁰Unitat de Reumatologia Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain, ¹¹Jaslok Hospital and Research Center, Mumbai, India, ¹²Hospital de Pediatria Garrahan, Buenos Aires, Argentina, ¹³Istituto G. Gaslini, Pediatria II, PRINTO, Genoa, Italy, ¹⁴University of Alabama at Birmingham, Birmingham, AL

Meeting: 2015 ACR/ARHP Annual Meeting

Date of first publication: September 29, 2015

Keywords: Systemic JIA and macrophage activation syndrome

Session Information

Date: Monday, November 9, 2015

Title: Pediatric Rheumatology - Clinical and Therapeutic Aspects Posters. Juvenile Arthritis and Miscellaneous Rheumatic Diseases

Session Type: ACR Poster Session B

Session Time: 9:00AM-11:00AM

Background/Purpose: Macrophage activations syndrome (MAS) is a potentially
life-threatening complication of systemic
juvenile idiopathic arthritis (sJIA). It is common
view that sJIA associated MAS bears a close clinical
resemblance to the group of hemophagocytic lymphohistiocytosis (HLH), including familial HLH (FHL).
This has led to suggest the use of the HLH-2004 guidelines to diagnose MAS in sJIA. However, MAS develops in the context of an underlying
highly inflammatory condition, whereas FHL is a primary disorder with genetic
basis. It is thus conceivable that some differences exist in the clinical
expression and severity of the two conditions. However, their clinical picture
has previously been compared only in small studies. The aim of our study was to
compare the demographic, clinical, laboratory and histopathologic
features of sJIA-associated MAS and FHL.

Methods : Data on sJIA associated MAS were collected
by both pediatric rheumatologists and pediatric hemato-oncologists in a
large multinational collaborative effort. Data on FHL patients were gathered
from the HLH-94 and HLH-2004 trials. Clinical and laboratory features at
disease onset were compared between by means of Mann-Whitney U test or
chi-square/Fisher exact test, as appropriate.

Results : A total of 620 patients were enrolled: 362 (58.4%) sJIA-associated
MAS and 258 (41.6%) FHL. The main differences in demographic, clinical,
laboratory and histopathologic features between the two patient groups
are presented in Table 1.

Conclusion : Although MAS and FHL showed similar clinical features and laboratory
abnormalities, the frequency of most clinical manifestations and the severity
and trend of laboratory changes were different. FHL patients had greater
frequency of hepatosplenomegaly and more profound cytopenia, hypofibrinogenemia and
hypertransaminasemia, whereas MAS patients had higher
levels of ferritin and LDH. The prevalence of CNS disease was comparable
between the two groups. Hemophagocytosis was detected
more commonly in FHL. The observed differences suggest the use of different
diagnostic criteria for the two conditions.

Disclosure: F. Minoia, None; A. Horne, None; S. Davì, None; F. Bovis, None; S. Rosina, None; K. Lehmberg, None; S. Weitzman, None; A. Insalaco, None; C. Wouters, GSK, Novartis, Roche, 2; S. Shenoi, None; G. Espada, None; S. Ozen, None; J. Anton, None; R. Khubchandani, None; R. Russo, None; N. Ruperto, Abbott, BMS, "Francesco Angelini", GlaxoSmithKline (GSK), Hoffman-La Roche, Italfarmaco, Janssen, Novartis, Pfizer, Sanofi Aventis, Schwarz Biosciences, Sobi, Xoma, Wyeth, 2,Abbott, AbbVie, Amgen, Biogenidec, Astellas, Alter, AstraZeneca, Boehringer, BMS, CD-Pharma,Celgene, CrescendoBio, EMD Serono,Hoffman-La Roche, Italfarmaco, Janssen, MedImmune, Medac, Novartis, Novo Nordisk, Pfizer, Sanofi Aventis, Servier, Takeda, Vertex, 8; A. Martini, Abbott, Abbvie, Amgen, Biogenidecm Bristol MyersSquibb, Astellas, Behringer, Italfarmaco, Janssen, MedImmune, Novartis, NovoNordisk, Pfizer, Sanofi, Roche, Servier, Takeda., 8,Abbott, BMS, "Francesco Angelini", GlaxoSmithKline (GSK), Hoffman-La Roche, Italfarmaco, Janssen, Novartis, Pfizer, Sanofi Aventis, Schwarz Biosciences, Sobi, Xoma, Wyeth., 9; R. Q. Cron, None; A. Ravelli, None.

To cite this abstract in AMA style:

Minoia F, Horne A, Davì S, Bovis F, Rosina S, Lehmberg K, Weitzman S, Insalaco A, Wouters C, Shenoi S, Espada G, Ozen S, Anton J, Khubchandani R, Russo R, Ruperto N, Martini A, Cron RQ, Ravelli A. Macrophage Activation Syndrome and Familial Hemophagocytic Lymphohistiocytosis: Is Their Clinical Phenotype Really Similar? [abstract]. Arthritis Rheumatol. 2015; 67 (suppl 10). https://acrabstracts.org/abstract/macrophage-activation-syndrome-and-familial-hemophagocytic-lymphohistiocytosis-is-their-clinical-phenotype-really-similar/. Accessed .

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