Systemic vasculitis encompasses a wide range of conditions characterized by varying degrees of inflammation in blood vessels. Although the etiology of vasculitis remains unclear, accumulated data suggest that it is triggered in genetically predisposed individuals by the concurrence of certain environmental factors. The importance of the genetic component has been consistently supported by evidence of familial aggregation, differential prevalence by ethnicity, and multiple genetic associations with disease susceptibility and severity reported in recent years. The strongest association signals in most vasculitides correspond to genetic variants within the HLA region, suggesting an important role of the immune system in its pathophysiology. However, each type of vasculitis has distinct defining HLA association markers, likely due to disease-specific differences in antigenic drivers. Furthermore, other genetic polymorphisms located outside the HLA region play an important role in susceptibility to different vasculitides. More recent research has assessed the shared genetic susceptibility evident across different vasculitides. Future studies should focus on the identification of genetic markers that can serve as reliable biomarkers for early diagnosis, prognosis, and treatment response in systemic vasculitis.

A man in his 70s presented with a sudden onset stabbing back pain radiating to the chest and pre-syncopal symptoms. He underwent urgent investigations, including a CT angiogram aorta which did not reveal any abnormalities within the thorax, abdomen or pelvis and no cause of symptoms was identified. After being discharged, he re-presented 2 days later with syncopal episodes, abdominal pain and a significant drop in haemoglobin levels. This time, a CT mesenteric angiogram showed two hepatic artery pseudoaneurysms and a large haemoperitoneum. Following a hepatic artery embolisation, a workup showed that the likely cause of the pseudoaneurysms was a rare first presentation of polyarteritis nodosa. This case highlights the importance of considering the possibility of an aneurysmal rupture, especially when common causes of an acute abdomen have been excluded, and not relying on previous negative investigations to exclude pathology, as the outcomes can be detrimental.

SummaryUlcerative colitis (UC), a chronic inflammatory bowel disease, can cause extraintestinal manifestations (EIMs) in approximately 40% of individuals. This case report discusses the diagnostic procedure of a woman in her 20s who initially had non-specific symptoms. The patient underwent a thorough evaluation, which initially pointed towards tuberculosis (TB) due to necrotic lymphadenopathy and granulomatous hepatitis. However, no microbiological evidence of TB was found, and her symptoms worsened despite antitubercular therapy. The patient developed painful nodular-ulcerative skin lesions consistent with cutaneous polyarteritis nodosa (cPAN) on biopsy. Eventually, a definitive diagnosis of UC was made, revealing the true nature of her multisystemic manifestations. Cutaneous vasculitis, including leucocytoclastic vasculitis and cPAN, is a rare EIM of UC, with only five reported cases in the literature. This case report highlights the clinical implications of EIMs and contributes to the expanding knowledge of rare EIMs such as cPAN and granulomatous hepatitis.

Infections in patients with systemic vasculitis represent one of the main causes of mortality. Corticosteroid use, immunosuppressive therapy, age, associated organic involvement and dialysis dependence are risk factors of infection.
OBJECTIVE: To determine the prevalence of severe infection and associated factors in patients diagnosed with ANCA-associated vasculitis (AAV) and Polyarteritis Nodosa (PAN).
METHODS: retrospective study was conduced in a single rheumatology center (2000-2018). We included patients diagnosed with AAV (Granulomatosis with Polyangiitis (GPA), Eosinophilic Granulomatosis with Polyangiitis (EGPA) and Microscopic Polyangiitis (PAM) and Polyarteritis nodosa (PAN). Serious infectious events requiring hospitalisation or prolonged antibiotic/antiviral treatment, recurrent infection of Herpes Zoster Virus or opportunistic infections were evaluated. Sites of infection, isolated microorganisms and mortality related were analyzed.
RESULTS: 105 patients were analyzed, follow-up time median 18 m, 58.7% were women and median age was 52 years. Types of vasculitis: 41.9% PAM, 16.2% EPGA, 40% GPA, 1.9% PAN. Constitutional, pulmonary, renal and otorhinolaryngology manifestations were the most frequent.
UNASSIGNED: 34.2%, with a median of 3 months from diagnosis of vasculitis to the infectious event. Low respiratory tract (42.8%), sepsis (31.4%), and urinary tract (14.3%) were the most common sites of infections. Bacterial aetiology was the most prevalent (67.7%). Mortality at the first event was 14.3% and a 72.2% of patients were in the induction phase of treatment. Infectious events were significantly associated with age > 65 years (p = 0.030), presence of lung (p = 0.016) and renal involvement (p = 0.001), BVASv3 > 15, mortality (p = 0.0002).
CONCLUSIONS: The prevalence of infection was 34.2%. Lower airway infections, septicemia and urinary tract infections were the most prevalent. Infections were associated with renal and pulmonary involvement, age older than 65 years and score BVAS > 15. Severe infections were associated with mortality, especially in elderly patients.

Acute cutaneous necrosis is a rare presentation of polyarteritis nodosa (PAN). In this study, we report a presentation with symmetrical cutaneous necrosis of the lower limbs, which ascended upward at a rapid rate. A 47-year-old man presented with a fever of one day and pain in the feet for six days. He had no history of claudication. Upon examination, he was febrile, and subtle bluish discoloration was observed on the sole of his foot. There was a bilateral stocking-type paresthesia up to the ankle joint. His blood pressure on admission was 210/120 mmHg. Eight hours later, the pain subsided, but a left-sided foot drop was noted along with the paresthesia extending up both feet to approximately 10 cm above the medial malleolus. The feet turned black, and dark discoloration spread rapidly upward over the next 16 hours, and the skin became necrosed. A clinical diagnosis of vasculitis was established, and the patient received IV methylprednisolone at a daily dosage of 1 g for three days, effectively stopping the advancement of necrosis. This was followed by treatment with IV cyclophosphamide. A conclusive diagnosis of PAN was made, and the patient underwent wound debridement. After three months of physiotherapy, a successful skin graft was performed. Prompt identification of the underlying etiology is crucial to prevent the advancement of necrosis and save the limbs. When vasculitis is suspected, ruling out infectious causes is essential before starting early immunosuppressive treatment.

A girl in the early adolescent age group presented with multisystem manifestations in the form of periodic fever, recurrent abdominal pain, hypertension, seizure, skin lesions over the chest and gangrene over the left ring and middle fingertips. Her condition had remained undiagnosed for 11 years. On evaluation, she had features of polyarteritis nodosa (PAN) (multiple aneurysms, symmetric sensorimotor peripheral neuropathy, superficial ulcers, digital necrosis, myalgia, hypertension and proteinuria). As childhood PAN is a phenocopy of adenosine deaminase 2 with a different management strategy, whole-exome sequencing was performed, which revealed a pathogenic variant in ADA2 gene. The child was treated with TNF alpha inhibitors and showed improvement in the Paediatric Vasculitis Activity Score. The paper highlights the gratifying consequences of correct diagnosis with disease-specific therapy that ended the diagnostic odyssey, providing relief to the patient from debilitating symptoms and to the family from the financial burden of continued out-of-pocket health expenditure.

暂无摘要。

An arterial aneurysm is a localized weakening of the artery wall that results in pathological dilatation. All intra-abdominal artery aneurysms are labeled as visceral artery aneurysms (VAA), apart from the aorto-iliac artery aneurysms. VAA´s are rare, gastroduodenal artery aneurysms (GDAA), constituting 1.5% of visceral artery aneurysms. A woman in her early 80s´ presented with chronic epigastric pain, weight loss, and nausea. Conservative management was unsuccessful. Imaging revealed a GDAA, prompting endovascular coil embolization. Subsequent evaluation confirmed Polyarteritis Nodosa (PAN), treated with rituximab. The report underscores the diagnostic challenges, emphasizing the need for a multidisciplinary approach using imaging and angiography. GDAA\'s potential life-threatening rupture necessitates prompt intervention, as illustrated in this case. The rare association with PAN, although infrequent, underscores the importance of considering underlying etiologies in multiple visceral aneurysms. Early diagnosis and intervention are pivotal for this uncommon yet potentially lethal condition.

Systemic vasculitides are a rare and complex group of diseases that can affect multiple organ systems. Clinically, presentation may be vague and non-specific and as such, diagnosis and subsequent management are challenging. These entities are typically classified by the size of vessel involved, including large-vessel vasculitis (giant cell arteritis, Takayasu\'s arteritis, and clinically isolated aortitis), medium-vessel vasculitis (including polyarteritis nodosa and Kawasaki disease), and small-vessel vasculitis (granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis). There are also other systemic vasculitides that do not fit in to these categories, such as Behcet\'s disease, Cogan syndrome, and IgG4-related disease. Advances in medical imaging modalities have revolutionized the approach to diagnosis of these diseases. Specifically, color Doppler ultrasound, computed tomography and angiography, magnetic resonance imaging, positron emission tomography, or invasive catheterization as indicated have become fundamental in the work up of any patient with suspected systemic or localized vasculitis. This review presents the key diagnostic imaging modalities and their clinical utility in the evaluation of systemic vasculitis.

暂无摘要。