Association between rheumatoid arthritis and systemic mastocytosis: a case report and literature review

Latar, Ichraq; Koufany, Meriem; Hablot, Julie; Lœuille, Damien; Netter, Patrick; Jouzeau, Jean‐Yves; Chary‐Valckenaere, Isabelle; Moulin, David

doi:10.1007/s10067-016-3368-9

Cited by 6 publications

(2 citation statements)

References 37 publications

(36 reference statements)

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“…This case exemplifies the diagnostic difficulties surrounding systemic mastocytosis, which are in part driven by its variable and non-specific manifestations. This point has been alluded to in previous case reports by rheumatologists and gastroenterologists 8 9. Our case illustrates the role of multiple specialities in diagnosis and the need for a low threshold for comprehensive investigation if there is clinical suspicion of systemic mastocytosis.…”

Section: Discussionsupporting

confidence: 59%

Systemic mastocytosis: variable manifestations can lead to a challenging diagnostic process

Nallamilli¹,

O’Neill

Wilson

et al. 2019

BMJ Case Rep

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Systemic mastocytosis results from proliferation and activation of an abnormal mast cell clone. It is a heterogeneous disorder with clinical manifestations ranging from skin lesions alone to aggressive multi-organ infiltration and decreased survival. Given these varied manifestations, diagnosis can be difficult. We describe the case of a woman who presented with rash and diarrhoea and had a history of anaphylactic reactions. Over a protracted period, the patient’s symptoms were investigated by a number of specialties including gastroenterology, dermatology, immunology and haematology. Morphological, immunohistochemical and molecular analysis of bone marrow samples ultimately led to a diagnosis of systemic mastocytosis. Management with leukotriene and histamine antagonists resulted in significant improvement in symptoms and quality of life. The case serves to highlight the protean manifestations of systemic mastocytosis, the tests available to diagnose it and the agents available to treat it.

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Section: Discussionsupporting

confidence: 59%

Systemic mastocytosis: variable manifestations can lead to a challenging diagnostic process

Nallamilli¹,

O’Neill

Wilson

et al. 2019

BMJ Case Rep

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“…This is in agreement with two lines of evidence. Firstly, clinical implication of MCs in inflammatory autoimmune diseases, such as rheumatoid arthritis (RA) and spondyloarthritis (SpA), has been established in several studies (Latar et al, 2016). Secondly, there is a connection between the HtrA1 protease and development of RA and SpA -in patients with these pathologies the HtrA1 gene expression and the level of HtrA1 protein were significantly elevated, and HtrA1 stimulated fibroblasts' metalloproteinases in articular mucosa (Tiaden et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Immune response against HtrA proteases in children with cutaneous mastocytosis

Renke

Kędzierska‐Mieszkowska

Lange

et al. 2018

Acta Biochim Pol

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Mast cells play an important role in both, the innate and adaptive immunity, however, clonal proliferation of abnormal mast cells in various organs leads to mastocytosis. A skin variant of the disease, cutaneous mastocytosis (CM) is the most frequent form of mastocytosis in children. HtrA proteases are modulators of important cellular processes, including cell signaling and apoptosis, and are related to development of several pathologies. The above and the observation that mast cells constitutively release the HtrA1 protein, prompted us to investigate a possible involvement of the HtrA proteins in pediatric CM. Levels of the serum autoantibodies (IgG) against the recombinant HtrA proteins (HtrA1-4) in children with CM (n=36) and in healthy controls (n=62) were assayed. Anti-HtrA IgGs were detected using enzyme linked immunosorbent assay (ELISA) and Western-blotting. In the CM sera, levels of the anti-HtrA1 and anti-HtrA3 autoantibodies were significantly increased when compared to the control group, while the HtrA protein levels were comparable. No significant differences in the anti-HtrA2 IgG level were found; for the anti-HtrA4 IgGs lower levels in CM group were revealed. In healthy children, the IgG levels against the HtrA1, -3 and -4 increased significantly with the age of children; no significant changes were observed for the anti-HtrA2 IgG. Our results suggest involvement of the HtrA1 and HtrA3 proteins in pediatric CM; involvement of the HtrA4 protein is possible but needs to be investigated further. In healthy children, the autoantibody levels against HtrA1, -3 and -4, but not against HtrA2, increase with age.

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Interleukin-1β as emerging therapeutic target in hematological malignancies and potentially in their complications

2017

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Interleukin-1β (IL-1β) is a pleiotropic cytokine that exerts multiple roles in both physiological and pathological conditions. It is produced by different cell subsets, and drives a wide range of inflammatory responses in numerous target cells. Enhanced IL-1β signaling is a common event in patients of hematological malignancies. Recent body of evidence obtained in preclinical models shows the pathogenic role of these alterations, and the promising therapeutic value of IL-1 targeting. In this review, we further highlight a potential contribution of IL-1β linking to complications and autoimmune disease that should be investigated in future studies. Hence, drugs that target IL-1 may be helpful to improve outcome or reduce morbidity in patients. Some of them are FDA-approved, and used efficiently against autoimmune diseases, like IL-1 receptor antagonist. In the clinic, however, this agent seems to have limited properties. Current improved drugs will allow to determine the true potential of IL-1 and IL-1β targeting as therapy in hematological malignancies and their related complications.

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Association between rheumatoid arthritis and systemic mastocytosis: a case report and literature review

Cited by 6 publications

References 37 publications

Systemic mastocytosis: variable manifestations can lead to a challenging diagnostic process

Systemic mastocytosis: variable manifestations can lead to a challenging diagnostic process

Immune response against HtrA proteases in children with cutaneous mastocytosis

Interleukin-1β as emerging therapeutic target in hematological malignancies and potentially in their complications

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