A 21‐Month‐Old Male With Refusal to Walk, Rash, and Weight Loss

Reese, Tyler; Villegas, Leonela; Wood, James B.; Gotte, Alisa

doi:10.1002/acr.22792

Cited by 4 publications

(1 citation statement)

References 54 publications

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“…The 38 patients with digestive system involvement comprised 15 men, 18 women, and five with unknown gender, with a median age at baseline evaluation of 20.3 years (range: 1.4-57). Of the 38 patients with digestive system involvement, 14 had hepatic granulomas proven by liver biopsy (5,7,11,16,(20)(21)(22)(23)(24)(25)(26)(27); five patients with hepatic granulomas had liver cirrhosis (21,23,24,26,27); 24 had enlarged liver and/or spleen (5,11,12,15,16,18,22,26,27,(29)(30)(31)(32)(33)(34)(35); six had elevated liver enzymes including transaminase and cholestatic liver enzyme (21-24, 26, 27); five had gastrointestinal diseases including gastric ulcer, diverticulitis, Barrett's esophagus and small and large intestine granulomas (6, 13, 36); one had multiple splenic and hepatic lesions (28); and one had fatty liver (13) (Supplementary Table S2).…”

Section: Systematic Literature Reviewmentioning

confidence: 99%

Blau syndrome with hypertension and hepatic granulomas: a case report and literature review

Yao

Tan

et al. 2023

Front. Pediatr.

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BackgroundBlau syndrome (BS) is a monogenic disorder caused by NOD2 gene variants characterized by the triad of granulomatous polyarthritis, rash, and uveitis. Atypical symptoms were recognized in one-third to one-half of individuals with BS. This study aims to describe the clinical features of BS patients with hypertension and digestive system involvement.MethodsThe complete clinical data of a BS patient complicated with hypertension and hepatic granulomas were collected and documented. We also performed a literature search to find all reported cases of BS with hypertension and digestive system involvement.ResultsWe reported the case of a 19-year-old man who presented with early onset symmetric polyarthritis and hypertension at age 5 and hepatic granulomas and cirrhosis at age 19. He was diagnosed with BS by the finding of a variant of the NOD2 gene (R334W). Through the literature review, 24 patients with BS were found who were reported to have hypertension, and 38 patients were found who had different digestive system manifestations such as hepatic granulomas, hepatosplenomegaly, diverticulitis, and intestinal granuloma. Among the 38 BS patients with digestive system involvement, 14 had hepatic granulomas proven by liver biopsy.ConclusionsHypertension and digestive system involvement are rare manifestations of BS. Clinicians, especially rheumatologists, must be aware of atypical symptoms of BS.

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Section: Systematic Literature Reviewmentioning

confidence: 99%

Blau syndrome with hypertension and hepatic granulomas: a case report and literature review

Yao

Tan

et al. 2023

Front. Pediatr.

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Distinguishing Blau Syndrome from Systemic Sarcoidosis

Kaufman

Becker

2021

Curr Allergy Asthma Rep

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Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome

et al. 2019

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Objectives: Blau syndrome (BS) is a rare dominantly inherited autoinflammatory disorder associated with mutations in the nucleotide-binding oligomerization domain containing 2 (NOD2) gene. Biologic therapy of BS yielded diverse results. We aimed to evaluate clinical features and outcomes of Chinese patients with BS who were treated with tumor necrosis factor (TNF)α inhibitors. Methods: A total of four patients with BS were diagnosed and treated with infliximab (IFX) at the Peking Union Medical College Hospital during 2015 to 2018 and were followed up for 18 months. All patients were systematically studied for treatment outcomes including the clinical manifestations and inflammatory markers. We also conducted a comprehensive literature review about TNFα inhibitor therapy in BS. Results: Four BS patients were all Chinese Han, and three were women. The mean age of disease onset was 4 ± 3.5 years, and the mean time of diagnosis delay was 19 ± 11 years. All patients received IFX plus methotrexate, and all achieved clinical remission of skin lesions and polyarthritis rapidly, as well as normalization of erythrocyte sedimentation rate and C-reactive protein and improvements in inflammatory cytokines, patient visual analogue scale, physician global assessment, and Short Form (SF)-36, at the first follow-up of 6 months. The disease relapsed in two patients after they lengthened the interval of IFX and discontinued methotrexate. According to the 38 English-language publications, 62 patients with BS were reported who underwent TNFα inhibitor therapy, including IFX used in 31, adalimumab in 24, and etanercept in 7. IFX was well tolerated in 27 patients, while 2 still had uveitis, and the other 2 experienced an adverse drug reaction. Conclusions: Early recognition and effective treatment of BS are very important to avoid irreversible organ damage. TNFα inhibitors such as IFX may be a promising approach for BS patients who have unsatisfactory response to corticosteroids and traditional disease-modifying antirheumatic drugs.

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A 21‐Month‐Old Male With Refusal to Walk, Rash, and Weight Loss

Cited by 4 publications

References 54 publications

Blau syndrome with hypertension and hepatic granulomas: a case report and literature review

Blau syndrome with hypertension and hepatic granulomas: a case report and literature review

Distinguishing Blau Syndrome from Systemic Sarcoidosis

Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome

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