‘More Than Just Skin in the Game’. DADA2 Autoinflammatory Syndrome and Stroke in the Young

Varghese, Ashin; Thomas, Joe; Maramattom, Boby Varkey

doi:10.4103/aian.aian_716_20

Cited by 5 publications

(2 citation statements)

References 11 publications

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“…Behc ¸et's disease-like manifestations have been recently reported in cases with adenosine deaminase 2 (DADA2) deficiency [17]. A 21-year-old man with a long-standing history of livedo, leg ulcers, and hyperpigmentation over both legs was finally diagnosed as DADA2 when he developed recurrent ischemic strokes [18]. The manifestations of DADA2 are very variable and can range from mild to fatal cases [19].…”

Section: Vasculitis Associated With Autoinflammatory Syndromesmentioning

confidence: 99%

Updates in cutaneous manifestations of systemic vasculitis

Elbendary

Abdel‐Halim

Ragab

2021

Current Opinion in Rheumatology

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Purpose of reviewThe main purpose of this review is to present newly reported cutaneous manifestations of systemic vasculitis, updates in investigations to verify systemic involvement in cases with cutaneous vasculitis and new therapeutic guidelines. The spectrum of COVID-19-related vasculitis is also covered. Recent findingsOnly a few reports highlighted new cutaneous presentations or associations with some systemic vasculitic entities. For example, the association of inflammatory disorders with Takayasu arteritis, the importance of considering Kawasaki disease in febrile children with erythema nodosum, the development of necrotic ulcers on fingers and toes in Behc ¸et's disease and the possible presence of polyarteritis nodosa-like pathological features in vulvar ulcers of Behc ¸et's disease. New attempts to classify cutaneous manifestations of giant cell arteritis (GCA) and antineutrophil cytoplasmic antibody-associated vasculitis (AAV) and the diagnostic investigations for cutaneous vasculitis cases to verify systemic involvement are discussed. Treatment of systemic vasculitis with cutaneous vasculitis should be tailored according to disease status. A plethora of reports in the past 2 years focused on the broad spectrum of COVID-19 vasculitic manifestations.

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Section: Vasculitis Associated With Autoinflammatory Syndromesmentioning

confidence: 99%

Updates in cutaneous manifestations of systemic vasculitis

Elbendary

Abdel‐Halim

Ragab

2021

Current Opinion in Rheumatology

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“…Notably, neurological complications are common in DADA2 [19], with strokes being a prominent feature that can present with various neurological symptoms and carry a high risk of fatality [1,2,10,20]. Other neurological ndings or initial alternative diagnosis include transient ischemic attacks (TIAs) with insigni cant magnetic resonance imaging (MRI) ndings, posterior reversible encephalopathy syndrome (PRES)-like encephalopathies, sensorineural hearing loss, ophthalmologic abnormalities, peripheral and cranial neuropathies [21,22]. Neurological symptoms can precede other manifestations in the course of DADA2 or be a sole presenting feature [4,6,23,24].…”

Section: Introductionmentioning

confidence: 99%

A narrative review of the neurological manifestations of human adenosine deaminase 2 deficiency

Мария

Ehlers²,

Wouters³

et al. 2023

Preprint

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Deficiency of human adenosine deaminase type 2 (DADA2) is a complex systemic autoinflammatory disorder characterized by vasculopathy, immune dysregulation, and hematologic abnormalities. The most notable neurological manifestations of DADA2 are strokes that can manifest with various neurological symptoms and are potentially fatal. However, neurological presentations can be diverse. We here present a review of the neurological manifestations of DADA2 to increase clinical awareness of DADA2 as the underlying diagnosis. We reviewed all published cases of DADA2 from 1 January 2014 until 19 July 2022 found via PubMed. 129 articles describing the clinical features of DADA2 were included in the analysis. 628 patients diagnosed with DADA2 were included in the review. 50.3% of patients had at least signs of one reported neurological event, which was the initial or sole manifestation in 5.7% and 0,6%, respectively. 77.5% of patients with neurological manifestations had at least signs of one cerebrovascular accident, with lacunar strokes being the most common and 35.9% of them having multiple stroke episodes. There is a remarkable predilection for the brain stem and gray matter, with 37.3% and 41.6% of ischemic strokes, respectively. Other neurological involvement included neuropathies, focal neurological deficits, ophthalmological findings, convulsions, headaches. In summary, neurological manifestations affect a significant proportion of patients with DADA2, and the phenotype is broad. Neurological manifestations can be the first and single manifestation of DADA2. Therefore, stroke, encephalitis, posterior reversible encephalopathy syndrome, mono- and polyneuropathy, and Behçet's disease-like presentations should prompt the neurologist to exclude DADA2, especially but not only in childhood.

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Misdiagnosed for 14 Years: Adenosine Deaminase 2 (ADA2) Deficiency in a Teen Mimicking Polyarteritis Nodosa

Zarafshani,

Avateffazeli,

Taba

et al. 2024

Clinical Case Reports

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The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder caused by loss of function mutations in the ADA2 gene (previously the CECR1 gene) on chromosome 22q11. The clinical spectrum of the disease is remarkably broad, and its presentations mimic features of polyarteritis nodosa, such as livedoid rash, hematological abnormalities (e.g., cytopenia), early‐onset stroke, hypogammaglobulinemia, and systemic inflammation. Early diagnosis and treatment of DADA2 are crucial, as the clinical features could be potentially life‐threatening but treatable. In this study, a 17‐year‐old male patient is reported with DADA2 whose symptoms mimic those of polyarteritis nodosa. A 17‐year‐old male patient presented with a 14‐year history of abdominal pain, hypertension, and cutaneous lesions initially attributed to polyarteritis nodosa (PAN). He was referred to our center due to ongoing abdominal pain. An abdominal and pelvic computed tomography scan with contrast revealed a retroperitoneal hemorrhage compressing the left kidney. Given his history of abdominal pain, hypertension, hemiparesis, transient ischemic attacks (TIA), anemia, cutaneous lesions, and retroperitoneal hemorrhage, DADA2 was suspected, and a genetic test confirmed the diagnosis. Treatment with anti‐TNF (Adalimumab) was initiated, resulting in noticeable improvement. In the follow up, fever, abdominal pain and TIA episodes were subsided and now he has a good clinical condition. Considering DADA2 and conducting a broad screening for other manifestations is recommended for patients presenting with PAN‐like symptoms. These patients may become symptomatic later in life, and early diagnosis allows for the consideration of disease‐specific treatment options.

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‘More Than Just Skin in the Game’. DADA2 Autoinflammatory Syndrome and Stroke in the Young

Cited by 5 publications

References 11 publications

Updates in cutaneous manifestations of systemic vasculitis

Updates in cutaneous manifestations of systemic vasculitis

A narrative review of the neurological manifestations of human adenosine deaminase 2 deficiency

Misdiagnosed for 14 Years: Adenosine Deaminase 2 (ADA2) Deficiency in a Teen Mimicking Polyarteritis Nodosa

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