Background/Purpose: We present a series of children previously diagnosed and managed as Polyarteritis nodosa at our unit. Due to ease of availability of mutation analysis and ADA2 enzyme assay, we were able to give a confirmatory etiological diagnosis to some of these children. Aims: To study in detail children recently diagnosed as DADA2 at our unit

Methods: A retrospective review was done of all children presenting as polyarteritis nodosa who were later confirmed as DADA2 on genetic analysis.

Results: So far 10 children have been confirmed as DADA2 at our unit. 5 boys and 5 girls formed our cohort.All these children belong to Agarwal community originating from North India.

Median age at first presentation was 6 years(IQR 1.25-10). Most common presentation was fever, pain in abdomen and livedoid rash. ADA2 enzyme assay was available on 8 children, 2 had 0% activity of ADA2 in comparison to total ADA. Remaining 6 also had low activity of ADA 2 to less than 12% as compared to 40% in age matched control samples. 2 children succumbed after diagnosis while being treated at different centres. TNF inhibitors have been initiated for 8 children.

Table 1 : Clinic profile

Conclusion: DADA2 may present as varied clinical scenarios The pain in abdomen and fever subsided after corticosteroid therapy in all children but the livedo and nodular rash persisted or reappeared on tapering steroids. A high index of suspicion is needed. Livedoid rash in a young child in the absence of antiphospholipid antibody is an important clinical clue that was present in all these children. Early diagnosis and treatment might prevent institution of therapy with conventional disease modifying agents. This is an initial data set and these children shall be followed up longitudinally.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/dada2-a-case-series-from-north-india/