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Background:
Takayasu's arteritis with comorbid chronic recurrent multifocal osteomyelitis and ulcerative colitis is rare in the pediatric population. Treatment with anti-TNF alpha agents such as infliximab has been a successful treatment strategy in adults and can be used effectively in the pediatric population.
Case presentation:
We present the...
Citations
... In two instances (5%), colectomy was performed as a necessary surgical intervention due to the severity of IBD [5,10]. Additionally, one patient within the cohort was identified as having Takayasu arteritis and received intravenous immunoglobulin (IVIG) therapy, underscoring the complexity of overlapping autoimmune conditions [16]. Different conditions coexisted in several cases, with primary sclerosing cholangitis being the most common in 3 out of 40 cases each [4,8,21], and others such as psoriasis (2/40) pyoderma gangrenosum (1/40) [3], Takayasu arteritis (1/40) [16], and eosinophilic esophagitis (1/40) [11] (Table 4). ...
... Additionally, one patient within the cohort was identified as having Takayasu arteritis and received intravenous immunoglobulin (IVIG) therapy, underscoring the complexity of overlapping autoimmune conditions [16]. Different conditions coexisted in several cases, with primary sclerosing cholangitis being the most common in 3 out of 40 cases each [4,8,21], and others such as psoriasis (2/40) pyoderma gangrenosum (1/40) [3], Takayasu arteritis (1/40) [16], and eosinophilic esophagitis (1/40) [11] (Table 4). Cantarelli et al. describe the successful treatment of refractory Crohn's disease in combination with CNO in a 10-year-old patient using a combination therapy of infliximab, methotrexate, and Crohn's disease exclusion diet plus partial enteral nutrition, as suggested by Levine et al. [22,27]. ...
Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a rare autoinflammatory bone disease primarily affecting children and adolescents. This review presents a comprehensive analysis of the intricate relationship between CNO and inflammatory bowel disease (IBD), shedding light on shared pathophysiological mechanisms and clinical management. A thorough literature review was conducted, encompassing 24 case reports involving 40 patients. The demographic distribution of patients revealed a near-equal gender ratio, with a median age of diagnosis at 12 years. The diagnosis patterns showed a higher proportion of CNO as the initial diagnosis, while Crohn’s disease was more prevalent than ulcerative colitis. The time interval between the clinical presentations varied, ranging from simultaneous detection to a substantial 15-year gap. Treatment modalities included nonsteroidal anti-inflammatory drugs (NSAIDs), steroids, aminosalicylates, and biologic agents, such as infliximab, often overlapping in their use and suggesting shared pathophysiological pathways. Both conditions displayed systemic manifestations, and patients often responded well to immunosuppressive medications. The pathophysiology of CNO involves a genetic predisposition, cytokine dysregulation, and osteoclast activation. Dysregulated innate immunity results in immune cell infiltration into bones, causing sterile bone lesions. Notably, emerging evidence hints at a potential link between the microbiome and CNO. In contrast, IBD results from imbalanced mucosal immune responses to the intestinal microbiota. Polymorphisms in the promotor region of IL-10, common cytokines, immune cells, and genetic markers indicate shared immunological and genetic factors between CNO and IBD. Both conditions also involve extraintestinal symptoms. This analysis underscores the need for clinical awareness of the co-occurrence of CNO and IBD, especially among pediatric patients. A deepened understanding of the connections between these seemingly distinct diseases could lead to more effective management and improved patient outcomes.
... In two instances (5%), colectomy was performed as a necessary surgical intervention due to the severity of IBD [5,10]. Additionally, one patient within the cohort was identified as having Takayasu arteritis and received intravenous immunoglobulin (IVIG) therapy, underscoring the complexity of overlapping autoimmune conditions [16]. Different conditions coexisted in several cases, with primary sclerosing cholangitis being the most common in 3 out of 40 cases each [4,8,27], and others such as psoriasis (2/40) pyoderma gangrenosum (1/40) [28], Takayasu arteritis (1/40) [16], and eosinophilic esophagitis (1/40) [11] (Table 3). ...
... Additionally, one patient within the cohort was identified as having Takayasu arteritis and received intravenous immunoglobulin (IVIG) therapy, underscoring the complexity of overlapping autoimmune conditions [16]. Different conditions coexisted in several cases, with primary sclerosing cholangitis being the most common in 3 out of 40 cases each [4,8,27], and others such as psoriasis (2/40) pyoderma gangrenosum (1/40) [28], Takayasu arteritis (1/40) [16], and eosinophilic esophagitis (1/40) [11] (Table 3). Furthermore, in the case series by Campbell et al. as well as Dushnicky et al., among other cases, psoriasis is described in the context of managing CNO with Crohnʹs disease with TNF-inhibitors, specifically infliximab and adalimumab [14,23]. ...
Chronic non-bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a rare autoinflammatory bone disease primarily affecting children and adolescents. This review presents a comprehensive analysis of the intricate relationship between CNO and inflammatory bowel disease (IBD), shedding light on shared pathophysiological mechanisms and clinical management. A thorough literature review was conducted, encompassing 24 case reports involving 40 patients. The demographic distribution of patients revealed a near-equal gender ratio, with a median age of diagnosis at 12 years. The diagnosis patterns showed a higher proportion of CNO as the initial diagnosis, while Crohn's disease was more prevalent than ulcerative colitis. The time interval between the clinical presentations varied, ranging from simultaneous detection to a substantial 15-year gap. Treatment modalities included non-steroidal anti-inflammatory drugs (NSAIDs), steroids, aminosalicylates, and biologic agents, such as infliximab, often overlapping in their use, suggesting shared pathophysiological pathways. Both conditions displayed systemic manifestations, and patients often responded well to immunosuppressive medications. The pathophysiology of CNO involves genetic predisposition, cytokine dysregulation, and osteoclast activation. Dysregulated innate immunity results in immune cell infiltration into bones, causing sterile bone lesions. Notably, emerging evidence hints at a potential link between the microbiome and CNO. In contrast, IBD results from imbalanced mucosal immune responses to the intestinal microbiota. Polymorphisms in the promotor region of IL-10, common cytokines, immune cells, and genetic markers indicate shared immunological and genetic factors between CNO and IBD. Both conditions also involve extraintestinal symptoms. This analysis underscores the need for clinical awareness of the co-occurrence of CNO and IBD, especially among pediatric patients. A deepened understanding of the connections between these seemingly distinct diseases could lead to more effective management and improved patient outcomes.
... To date, there is no consensus regarding second-line treatment, whether bisphosphonates or biologics. Bisphosphonates may be particularly well suited for spinal lesions [10], but subgroups of patients with extra-osseous (EO) or systemic manifestations may benefit from biologics such as TNF inhibitors (TNFis) [7,13,14]. ...
... Associations with gastrointestinal (GI) features have been described, including Crohn's disease, ulcerative colitis and coeliac disease [19]. In rare cases, uveitis has been reported (<5% of patients) [3], as has vasculitis [14,20] and myositis [21]. However, comprehensive analyses of these EO manifestations in CRMO and their impact on treatment and prognosis are rare. ...
Objectives
Extra-osseous (EO) manifestations are poorly characterized in chronic recurrent multifocal osteomyelitis (CRMO). This study aimed to further define the frequency, characteristics and treatment of EO events in CRMO and whether different phenotypes can be distinguished and benefit from special management.
Methods
This multicentre retrospective study included CRMO patients followed in several paediatric rheumatology departments in France between 2015 and 2022. EO manifestations were defined as skin lesions, gastrointestinal manifestations, arthritis, enthesitis, sacroiliitis, uveitis, vasculitis and fever. At the last visit, the physician defined CRMO as active in the presence of clinical manifestations including both osseous and EO symptoms.
Results
We included 133 patients; 87 (65.4%) were girls and the median age at first symptoms was 9.0 years (interquartile range 7.0–10.0). EO manifestations were described in 90 (67.7%) patients, with a predominance of skin lesions [n = 51/90 (56.7%)], followed by sacroiliitis [n = 38/90 (42.2%)], enthesitis [n = 21/90 (23.3%)], arthritis [n = 14/90 (15.6%)] and gastrointestinal manifestations [n = 6/90 (6.7%)]. The use of non-steroidal anti-inflammatory drugs and bisphosphonates did not differ by the presence or not of EO manifestations. Biologics were taken more frequently by patients with than without EO manifestations (P < 0.001); TNF inhibitors were used in 33 (36.7%) EO-positive patients. Under this treatment, 18 (54.5%) patients achieved complete remission of osseous and EO manifestations. At the last visit, more EO+ than EO− patients were on treatment (P = 0.009), with active disease in 58 (64.4%) patients.
Conclusion
The analysis of EO manifestations in CRMO delineates two groups of patients in terms of severity and treatments used. Our study opens up new pathophysiological leads that may underlie the wide range of CRMO phenotypes.
Background:
Chronic nonbacterial osteomyelitis (CNO) is a rare autoinflammatory bone disorder that mainly involves children and adolescents. The association with other inflammatory disorders, such as inflammatory bowel disease (IBD), psoriasis, and arthritis, has been reported in the literature. In particular, the relationship between bone and intestinal inflammation is still poorly understood. For this purpose, our review aims to describe the cases reported in the literature concerning this association and to compare them with data from our single-center cohort of patients.
Methods:
We conducted a literature review of published cases of CNO associated with IBD. Eligible articles were identified through a Medline search in the PubMed database until December 2022. We retrospectively reviewed medical records of patients with CNO referred to G. Pini Hospital and compared them with the literature-review-based cohort.
Results:
Fifty-seven patients with a defined diagnosis of CNO and associated IBD were described in the literature (female 55%). The median age of onset of the disease (CNO or IBD) was 11 years. In 32/53 (60%), a diagnosis of Crohn's disease (CD) was made, while 18 (34%) patients were classified as suffering from ulcerative colitis (UC) and 3 (6%) from undifferentiated IBD. The diagnosis of CNO preceded the diagnosis of IBD in 59% of cases; while in 24%, IBD anticipated CNO; and in 17%, the two conditions appeared simultaneously. The median time between the two events was 24 months. In our Italian cohort (n = 23 patients), no diagnosis of IBD was made. No significant differences were found when comparing clinical and demographical characteristics of the Italian vs. review-based cohort, except for a significant involvement of rachis in the Italian group.
Conclusions:
The correlation between autoinflammatory bone disease and intestinal inflammation should be further investigated. It is essential to promote awareness among pediatric rheumatologists and gastroenterologists about this possible association to facilitate the diagnosis and better optimize treatment.
Background
There is insufficient evidence on the clinical effectiveness and safety of infliximab (IFX) treatment of Takayasu arteritis (TA) in infants.
Methods
We evaluated the therapeutic effectiveness and safety of IFX in a retrospective case series of 10 infantile TA patients. Observations included assessment of clinical symptoms, laboratory testing, and vascular imaging.
Results
Fever was the presenting symptom for 8 of 10 infants with TA. During acute episodes, leucocyte and inflammatory indices were significantly increased. Vascular imaging showed the most commonly involved arteries to be carotid arteries, abdominal aortas, and coronary arteries (9 cases, 90%). Two weeks after initiating IFX treatment, leukocyte and platelet counts decreased and hemoglobin levels increased. There were statistically significant clinical improvements 6 weeks after starting treatment compared with before treatment ( p < 0.05). Inflammatory indices decreased 2 weeks after starting IFX treatment compared with before treatment ( p < 0.05). Vascular lesions began to recover within 1.5-3 months of initiating IFX therapy, and involved vessels significantly recovered within 13 months. Some arteries remained stenotic, with intimal thickening and uneven lumen wall thicknesses. The only adverse event was a treatment-responsive allergic reaction during IFX infusion in one infant.
Conclusions
Fever was the main manifestation of illness and was often accompanied by significantly increased inflammatory indices. IFX treatment was apparently effective and reduced or eliminated need for glucocorticoids. IFX had a reasonably good safety profile.
SAPHO syndrome (« synovitis, acne, pustulosis, hyperostosis, osteitis ») is characterised by cutaneous and osteoarticular manifestations. The latter include osteitis, synovitis and hyperostosis. They most frequently involve the anterior chest wall and the sacroiliac joints. Mandible is involved in 10% of cases and this is clinically manifested by swelling, pain or trismus. We have recently seen 2 patients who had so far undiagnosed episodes of recurrent swelling of the mandible leading to repeat bone biopsies. The presence of dermatologic findings allowed diagnosing SAPHO syndrome and providing efficient treatment.
