Nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 (DADA2): a case-control study
Abstract Background Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease mainly characterized by the presence of systemic inflammation and vascular manifestations such as vasculitis and early-onset stroke. Raynaud’s phenomenon (RP) can occur in up to 22% of DADA2...
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BMC
2025-05-01
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| Series: | Pediatric Rheumatology Online Journal |
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| Online Access: | https://doi.org/10.1186/s12969-025-01104-4 |
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| author | Pietro Francesco Bica Caterina Matucci-Cerinic Elvis Hysa Andrea Cere Silvia Rosina Stefano Volpi Roberta Caorsi Alberto Sulli Sabrina Paolino Vanessa Smith Maurizio Cutolo Marco Gattorno |
| author_facet | Pietro Francesco Bica Caterina Matucci-Cerinic Elvis Hysa Andrea Cere Silvia Rosina Stefano Volpi Roberta Caorsi Alberto Sulli Sabrina Paolino Vanessa Smith Maurizio Cutolo Marco Gattorno |
| author_sort | Pietro Francesco Bica |
| collection | DOAJ |
| description | Abstract Background Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease mainly characterized by the presence of systemic inflammation and vascular manifestations such as vasculitis and early-onset stroke. Raynaud’s phenomenon (RP) can occur in up to 22% of DADA2 patients. The aim of this work was to investigate the microvascular status of DADA2 patients by the mean of nailfold videocapillaroscopy (NVC) comparing them with adequate healthy controls (HC) and primary RP patients. Findings NVC data of 9 DADA2 patients (mean age 18 ± 6 y) followed at the Children Gaslini Institute were retrospectively retrieved and compared to age and sex cross matched 11 HCs and 7 with primary RP patients. The NVC parameters were classified according to the EULAR SG Fast Track Algorithm and distinguished between scleroderma-pattern (giant capillaries and/or loss of capillaries combined with abnormally shaped capillaries) and non-scleroderma patterns (non-specific NVC alterations). In all DADA2 patients, NVC showed the presence of non-specific alterations (capillaries with dilations in 100% of cases, abnormal shapes in 23% and microhaemorrhages in 11% of patients). The capillary density was normal and no scleroderma pattern was found. Between DADA2, RP patients and HC, no significant differences in the rate of each microvascular finding were detected (p values NS). Conclusions This is the first report on NVC in DADA2 patients. Only non-specific abnormalities were found, characterized mainly by capillaries’ dilations, but in the absence of giant capillaries. However, larger studies are needed to definitively disclose the microvascular status in DADA2 disease. |
| format | Article |
| id | doaj-art-2eb68b15c0604cc0b7cc402750a04443 |
| institution | DOAJ |
| issn | 1546-0096 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Pediatric Rheumatology Online Journal |
| spelling | doaj-art-2eb68b15c0604cc0b7cc402750a044432025-08-20T03:08:40ZengBMCPediatric Rheumatology Online Journal1546-00962025-05-012311510.1186/s12969-025-01104-4Nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 (DADA2): a case-control studyPietro Francesco Bica0Caterina Matucci-Cerinic1Elvis Hysa2Andrea Cere3Silvia Rosina4Stefano Volpi5Roberta Caorsi6Alberto Sulli7Sabrina Paolino8Vanessa Smith9Maurizio Cutolo10Marco Gattorno11Department of Health Sciences (DISSAL), University of GenoaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of GenoaDepartment of Health Sciences (DISSAL), University of GenoaDepartment of Health Sciences (DISSAL), University of GenoaRheumatology and Autoinflammatory diseases, IRCCS Istituto Giannina GasliniDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of GenoaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of GenoaLaboratory of Experimental Rheumatology and Academic Division of Clinical Rheumatology, Department of Internal Medicine and Specialties (DIMI), University of Genova, IRCCS San Martino PolyclinicLaboratory of Experimental Rheumatology and Academic Division of Clinical Rheumatology, Department of Internal Medicine and Specialties (DIMI), University of Genova, IRCCS San Martino PolyclinicDepartment of Internal Medicine, University of Ghent, Ghent University HospitalLaboratory of Experimental Rheumatology and Academic Division of Clinical Rheumatology, Department of Internal Medicine and Specialties (DIMI), University of Genova, IRCCS San Martino PolyclinicRheumatology and Autoinflammatory diseases, IRCCS Istituto Giannina GasliniAbstract Background Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease mainly characterized by the presence of systemic inflammation and vascular manifestations such as vasculitis and early-onset stroke. Raynaud’s phenomenon (RP) can occur in up to 22% of DADA2 patients. The aim of this work was to investigate the microvascular status of DADA2 patients by the mean of nailfold videocapillaroscopy (NVC) comparing them with adequate healthy controls (HC) and primary RP patients. Findings NVC data of 9 DADA2 patients (mean age 18 ± 6 y) followed at the Children Gaslini Institute were retrospectively retrieved and compared to age and sex cross matched 11 HCs and 7 with primary RP patients. The NVC parameters were classified according to the EULAR SG Fast Track Algorithm and distinguished between scleroderma-pattern (giant capillaries and/or loss of capillaries combined with abnormally shaped capillaries) and non-scleroderma patterns (non-specific NVC alterations). In all DADA2 patients, NVC showed the presence of non-specific alterations (capillaries with dilations in 100% of cases, abnormal shapes in 23% and microhaemorrhages in 11% of patients). The capillary density was normal and no scleroderma pattern was found. Between DADA2, RP patients and HC, no significant differences in the rate of each microvascular finding were detected (p values NS). Conclusions This is the first report on NVC in DADA2 patients. Only non-specific abnormalities were found, characterized mainly by capillaries’ dilations, but in the absence of giant capillaries. However, larger studies are needed to definitively disclose the microvascular status in DADA2 disease.https://doi.org/10.1186/s12969-025-01104-4DADA2Nailfold capillaroscopyVasculitisRare diseases |
| spellingShingle | Pietro Francesco Bica Caterina Matucci-Cerinic Elvis Hysa Andrea Cere Silvia Rosina Stefano Volpi Roberta Caorsi Alberto Sulli Sabrina Paolino Vanessa Smith Maurizio Cutolo Marco Gattorno Nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 (DADA2): a case-control study Pediatric Rheumatology Online Journal DADA2 Nailfold capillaroscopy Vasculitis Rare diseases |
| title | Nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 (DADA2): a case-control study |
| title_full | Nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 (DADA2): a case-control study |
| title_fullStr | Nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 (DADA2): a case-control study |
| title_full_unstemmed | Nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 (DADA2): a case-control study |
| title_short | Nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 (DADA2): a case-control study |
| title_sort | nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 dada2 a case control study |
| topic | DADA2 Nailfold capillaroscopy Vasculitis Rare diseases |
| url | https://doi.org/10.1186/s12969-025-01104-4 |
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