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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11586464PMC
http://dx.doi.org/10.1002/ccr3.9641DOI Listing

Publication Analysis

Top Keywords

polyarteritis nodosa
16
abdominal pain
16
adenosine deaminase
8
early diagnosis
8
diagnosis treatment
8
17-year-old male
8
male patient
8
history abdominal
8
pain hypertension
8
cutaneous lesions
8

Similar Publications

Background: Polyarteritis nodosa is a relatively uncommon type of systemic necrotizing vasculitis that primarily affects medium-sized arteries. While gastrointestinal involvement is known in polyarteritis nodosa, heavy gastrointestinal bleeding due to gastric ulceration is relatively uncommon. We present the case of an 81-year-old male of Chinese ethnicity who experienced severe gastrointestinal bleeding as a result of polyarteritis nodosa and an innovative treatment approach for a better patient outcomes.

View Article and Find Full Text PDF

Polyarteritis nodosa (PAN) is a rare systemic necrotizing vasculitis that can lead to the formation of refractory lower limb ulcers requiring amputation. The standard treatment for severe PAN involves combination therapy with steroids and cyclophosphamide; however, some cases prove to be challenging. Recently, case reports have described the use of biological agents for PAN treatment.

View Article and Find Full Text PDF

The patient was a 48-year-old man who had developed acute myocardial infarction 3 years earlier. He started experiencing recurrent attacks of abdominal pain 2 years earlier. One month before the presentation, he developed perforative peritonitis, which was treated with right hemicolectomy.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates the effectiveness of a new imaging technique, fluorine-18-labeled FAP inhibitor (FAPI-42), for detecting systemic vasculitis in patients, comparing it to the standard FDG imaging technique.
  • A retrospective analysis of 30 patients revealed that FAPI-42 had a higher detection rate for lesions (100% vs. 93.3%) and identified more lesions overall compared to FDG (161 vs. 145).
  • FAPI-42 also showed a moderate correlation with inflammatory markers, suggesting it may be a valuable tool for assessing systemic vasculitis severity.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!