RESUMEN
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.
Asunto(s)
Colitis Ulcerosa , Hepatitis , Poliarteritis Nudosa , Humanos , Poliarteritis Nudosa/diagnóstico , Poliarteritis Nudosa/tratamiento farmacológico , Poliarteritis Nudosa/complicaciones , Femenino , Colitis Ulcerosa/diagnóstico , Colitis Ulcerosa/complicaciones , Colitis Ulcerosa/tratamiento farmacológico , Hepatitis/diagnóstico , Diagnóstico Diferencial , Granuloma/diagnóstico , Adulto , Antituberculosos/uso terapéuticoAsunto(s)
Síndrome de Hiperostosis Adquirido , Poliarteritis Nudosa , Talidomida , Humanos , Talidomida/uso terapéutico , Talidomida/análogos & derivados , Poliarteritis Nudosa/tratamiento farmacológico , Poliarteritis Nudosa/complicaciones , Síndrome de Hiperostosis Adquirido/tratamiento farmacológico , Síndrome de Hiperostosis Adquirido/complicaciones , Femenino , Antiinflamatorios no Esteroideos/uso terapéutico , Resultado del Tratamiento , Persona de Mediana EdadAsunto(s)
Poliarteritis Nudosa , Humanos , Masculino , Poliarteritis Nudosa/complicaciones , Poliarteritis Nudosa/diagnóstico por imagen , Poliarteritis Nudosa/tratamiento farmacológico , Poliarteritis Nudosa/patología , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Angiografía , Arterias/diagnóstico por imagen , Abdomen/irrigación sanguínea , Abdomen/diagnóstico por imagen , Glucocorticoides/administración & dosificación , Glucocorticoides/uso terapéutico , Ciclofosfamida/uso terapéutico , Inmunosupresores/administración & dosificación , Inmunosupresores/uso terapéutico , Administración OralRESUMEN
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.
Asunto(s)
Adenosina Desaminasa , Poliarteritis Nudosa , Humanos , Poliarteritis Nudosa/diagnóstico , Poliarteritis Nudosa/tratamiento farmacológico , Adenosina Desaminasa/deficiencia , Adenosina Desaminasa/genética , Femenino , Diagnóstico Diferencial , Adolescente , Secuenciación del Exoma , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Enfermedades Autoinflamatorias Hereditarias/genética , Enfermedades Autoinflamatorias Hereditarias/tratamiento farmacológico , Inhibidores del Factor de Necrosis Tumoral/uso terapéutico , Niño , Péptidos y Proteínas de Señalización IntercelularAsunto(s)
Enfermedad de Crohn , Poliarteritis Nudosa , Humanos , Enfermedad de Crohn/diagnóstico , Enfermedad de Crohn/tratamiento farmacológico , Enfermedad de Crohn/complicaciones , Poliarteritis Nudosa/tratamiento farmacológico , Poliarteritis Nudosa/diagnóstico , Resultado del Tratamiento , Inmunosupresores/uso terapéutico , Femenino , Masculino , Resistencia a Medicamentos , Biopsia , AdultoRESUMEN
BACKGROUND: Cutaneous polyarteritis nodosa (cPAN) is a systemic disease that is limited to the skin. cPAN usually presents with cutaneous reticular cyanotic, erythematous and palpable nodules, and cutaneous ulcers.Research has indicated that the use of hormones and immunosuppressive drugs can delay ulcer healing and associated neuropathy, and also elevate the risk of disease recurrence upon their reduction or withdrawal. Therefore, it is a necessary to find a safe and effective approach that minimize hormone side effects in ulcer treatment. CASE PRESENTATION: The patient, a 48-year-old female of Han Chinese ethnicity, has suffered from recurrent erythema nodosum on both lower limbs for 8 years. The condition was aggravated by skin breakdown over the last 3 months. Despite multiple treatments, the patient's condition did not improve significantly, leading to the exploration of a combined approach of traditional Chinese and Western medicine. Following six months of combined traditional Chinese and Western medicine treatment, t the patient's newborn erythema and ulcers on both lower limbs did not reappear, and the ulcers gradually decreased in size and the erythema disappeared. The patient took the TCM regularly until April 15, 2023, when the ulcers were completely healed. Three months after the patient stopped taking TCM, the ulcers had completely healed with no recurrence, as observed during the follow-up visit on July 14th, 2023. CONCLUSION: Traditional Chinese Medicine Combined with Low-Dose Hormones May Effectively Treat Bilateral Lower Extremity Skin Ulcers Caused by Cutaneous Polyarteritis Nodosa.
Asunto(s)
Poliarteritis Nudosa , Femenino , Recién Nacido , Humanos , Persona de Mediana Edad , Poliarteritis Nudosa/complicaciones , Poliarteritis Nudosa/tratamiento farmacológico , Úlcera , Extremidad Inferior , Eritema , Hormonas/uso terapéuticoRESUMEN
BACKGROUND: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly discovered autoinflammatory condition characterised by somatic mutation of the UBA1 gene. The syndrome leads to multi-system inflammation affecting predominantly the skin, lungs and bone marrow. METHODS: We undertook a systematic review of the multisystem features and genotypes observed in VEXAS syndrome. Articles discussing VEXAS syndrome were included. Medline, Embase and Cochrane databases were searched. Information was extracted on: demographics, type and prevalence of clinical manifestations, genetic mutations and treatment. Meta-analysis using a random effects model was used to determine pooled estimates of serum markers. RESULTS: From 303 articles, 90 were included, comprising 394 patients with VEXAS. 99.2% were male, with a mean age of 67.1 years (SD 8.5) at disease onset. The most frequent diagnoses made prior to VEXAS were: relapsing polychondritis (n = 59); Sweet's syndrome (n = 24); polyarteritis nodosa (n = 11); and myelodysplastic syndrome (n = 10). Fever was reported in 270 cases (68.5%) and weight loss in 79 (20.1%). Most patients had haematological (n = 342; 86.8%), dermatological (n = 321; 81.5%), pulmonary (n = 297; 75.4%%) and musculoskeletal (n = 172; 43.7%) involvement, although other organ manifestations of varying prevalence were also recorded. The most commonly reported mutations were "c.122T > C pMET41Thr" (n = 124), "c.121A > G pMET41Val" (n = 62) and "c.121A > C pMet41Leu" (n = 52). Most patients received glucocorticoids (n = 240; 60.9%) followed by methotrexate (n = 82; 20.8%) and IL-6 inhibitors (n = 61, 15.4%). One patient underwent splenectomy; 24 received bone marrow transplants. CONCLUSION: VEXAS syndrome is a rare disorder affecting predominantly middle-aged men. This is the first systematic review to capture clinical manifestations, genetics and treatment of reported cases. Further studies are needed to optimise treatment and subsequently reduce morbidity and mortality.
Asunto(s)
Enzimas Activadoras de Ubiquitina , Humanos , Masculino , Enzimas Activadoras de Ubiquitina/genética , Femenino , Mutación , Síndrome , Anciano , Persona de Mediana Edad , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/terapia , Síndrome de Sweet/genética , Síndrome de Sweet/tratamiento farmacológico , Síndrome de Sweet/epidemiología , Poliarteritis Nudosa/genética , Poliarteritis Nudosa/tratamiento farmacológico , Poliarteritis Nudosa/terapia , Enfermedades Autoinflamatorias Hereditarias/genética , Enfermedades Autoinflamatorias Hereditarias/tratamiento farmacológico , Enfermedades Autoinflamatorias Hereditarias/terapia , Enfermedades Autoinflamatorias Hereditarias/diagnósticoRESUMEN
Polyarteritis nodosa (PAN) is a systemic vasculitis affecting medium and small-sized vessels resulting in multiple organ involvement. Refractory PAN requires a different therapeutic approach. We herein report the case of a 42-year-old male presenting a non-virus-related refractory PAN with a favorable outcome on rituximab. He presented significant weight loss, muscle weakness, peripheral axonal neuropathy, and medium-sized cutaneous vessel necrotizing vasculitis. The patient received high-dose corticosteroids and cyclophosphamide with no significant clinical improvement while developing adverse side effects such as hypertension and diabetes. Rituximab was prescribed as an alternative therapy at 1000 mg on day 0 and day 15. This allowed for complete and rapid control of disease activity with regression of cutaneous injury and substantial improvement of neurological symptoms. In conclusion, using chimeric anti-CD20 monoclonal antibodies, such as rituximab, although rarely reported in refractory non-virus-related PAN, may be an effective alternative therapy, as portrayed in our case.
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Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Poliarteritis Nudosa , Vasculitis , Masculino , Humanos , Adulto , Poliarteritis Nudosa/diagnóstico , Poliarteritis Nudosa/tratamiento farmacológico , Rituximab , CiclofosfamidaRESUMEN
Classic polyarteritis nodosa (PAN) is a vasculitis with systemic manifestations that is characterized by inflammatory and necrotizing lesions affecting medium and small muscular arteries, most frequently at the bifurcation of the vessels. These lesions lead to the formation of microaneurysms, hemorrhaging ruptured aneurysms, thrombosis, and, consequently, ischemia or organ infarction. Background and Objectives: We present a complex clinical case of a patient with a late diagnosis of polyarteritis nodosa with multiorgan involvement. Materials and Methods: The 44-year-old patient, in an urban environment, presented on her own in the emergency room for acute ischemia phenomena and forearm and right-hand compartment syndrome, requiring surgical decompression in the Plastic Surgery Clinic. Results: Significant inflammatory syndrome is noted, alongside severe normocytic hypochromic iron deficiency anemia, nitrogen retention syndrome, hyperkalemia, hepatic syndrome, and immunological disturbances: absence of cANCA, pANCA, anti Scl 70 Ac, antinuclear Ac, and anti dDNA Ac, as well as a low C3 fraction of the plasmatic complement system. The morphological aspect described in the right-hand skin biopsy correlated with the clinical data supports the diagnosis of PAN. Conclusions: The viral form of PAN seems to be individualized as a distinct entity, requiring early, aggressive medication.
Asunto(s)
Poliarteritis Nudosa , Humanos , Femenino , Adulto , Poliarteritis Nudosa/complicaciones , Poliarteritis Nudosa/diagnóstico , Poliarteritis Nudosa/tratamiento farmacológico , Arterias/patología , Biopsia , Anticuerpos Anticitoplasma de NeutrófilosRESUMEN
BACKGROUND: Many patients with polyarteritis nodosa (PAN) complicated by digital gangrene have poor outcomes and related research information is limited. Our aim is to identify the associated risk and prognostic factors in PAN patients with digital gangrene. PATIENTS AND METHODS: We conducted a retrospective study of 148 PAN patients admitted to Peking Union Medical College Hospital from Octorber 2001 to December 2018. Forty-seven (31.8%) PAN patients had digital gangrene. The average age was 40.4 ± 17.9 years. RESULTS: The presence of digital gangrene was correlated with current smoking (P = .008, odds ratio [OR] 2.99, 95% CI, 1.33-6.73), eosinophil elevation (P = .003, OR 4.21, 95% CI, 1.62-10.91) and elevated leukocytes (P = .001, OR 4.26, 95% CI, 1.86-9.78). Thirty-two (68.1%) gangrene patients received methylprednisolone pulse therapy and all of these patients were treated with cyclophosphamide. Nine patients suffered irreversible organ injury and 2 died. Survival analysis showed higher serum C-reactive protein (CRP) was associated with poor prognosis in patients with gangrene (log-rank P = 0.042 and generalized Wilcoxon P = .020). CONCLUSIONS: PAN patients with current smoking and eosinophil elevation were more prone to digital gangrene and a high serum CRP level predicted poor outcomes. The CRP level should be efficiently controlled to ensure a good prognosis.
Asunto(s)
Poliarteritis Nudosa , Humanos , Adulto Joven , Adulto , Persona de Mediana Edad , Poliarteritis Nudosa/complicaciones , Poliarteritis Nudosa/diagnóstico , Poliarteritis Nudosa/tratamiento farmacológico , Pronóstico , Estudios Retrospectivos , Gangrena/complicaciones , CiclofosfamidaRESUMEN
Polyarteritis nodosa (PAN) is a primary form of vasculitis characterized by inflammation of primarily medium-sized arteries. Several key events have shaped the current spectrum of the disease including the separation of a subgroup with microscopic polyangiitis, the discovery of the association of hepatitis B, and the discovery of adenosine deaminase 2 deficiency (DADA2). With the discovery of secondary causes of PAN and changing nomenclature, the incidence of PAN has declined over time. Common manifestations include constitutional symptoms, skin involvement, peripheral neuropathy, gastrointestinal disease, and renal involvement. DADA2 is a genetic cause of medium vessel vasculitis that is important to distinguish from primary PAN as treatment with TNF inhibitors can prevent morbidity and mortality in those with a vasculitis phenotype. Treatment of systemic primary PAN involves the use of systemic immunosuppressive therapy largely guided by the severity of disease. With current treatment regimens, the prognosis has changed from a once uniformly fatal disease to a 5-year survival rate above 80%.
Asunto(s)
Poliarteritis Nudosa , Vasculitis , Humanos , Poliarteritis Nudosa/diagnóstico , Poliarteritis Nudosa/tratamiento farmacológico , Poliarteritis Nudosa/etiología , Adenosina Desaminasa/genética , Péptidos y Proteínas de Señalización Intercelular , Vasculitis/complicaciones , PronósticoRESUMEN
A man in his 20s presented following a generalised tonic-clonic seizure on a background of a recent diagnosis of hepatitis B (HBV). During admission, he was severely hypertensive and imaging findings confirmed a diagnosis of posterior reversible leukoencephalopathy syndrome (PRES). The patient subsequently developed multiorgan involvement with an axonal sensorimotor neuropathy, vascular cutaneous lesions and multiple bilateral renal and splenic infarcts. Based on the 2012 Revised International Chapel Hill Consensus Criteria, a diagnosis of polyarteritis nodosa (PAN) with secondary PRES was made. The patient was given intravenous methylprednisolone, followed by a prolonged course of oral prednisolone, and tenofovir antiviral therapy to target HBV seroconversion. He made a good neurological recovery with resolution of imaging changes. This case highlights the importance of a low threshold for systemic screening for young patients presenting with PRES secondary to uncontrolled hypertension and the importance of viral screening, particularly for HBV.
Asunto(s)
Poliarteritis Nudosa , Síndrome de Leucoencefalopatía Posterior , Antivirales/uso terapéutico , Humanos , Masculino , Metilprednisolona/uso terapéutico , Poliarteritis Nudosa/complicaciones , Poliarteritis Nudosa/diagnóstico , Poliarteritis Nudosa/tratamiento farmacológico , Síndrome de Leucoencefalopatía Posterior/diagnóstico por imagen , Síndrome de Leucoencefalopatía Posterior/tratamiento farmacológico , Tenofovir/uso terapéuticoRESUMEN
Polyarteritis nodosa (PAN) is a rare systemic necrotizing vasculitis affecting small- to medium-sized arteries. The most common gastrointestinal manifestation of PAN is postprandial abdominal pain from mesenteric arteritis causing bowel ischemia. When transmural ischemia develops, there may be ischemic necrosis and perforation of the bowel wall, which are life-threatening. Severe, life-threatening gastrointestinal involvement is relatively rare in pediatric PAN and may require different management in adult patients. We report a pediatric PAN case in a patient who presented with acute abdominal pain and superimposed cytomegalovirus enteritis with jejunoileal perforation. The patient improved with emergency small intestinal resection followed by conventional immunosuppressive drugs of a corticosteroid and cyclophosphamide, and anti-viral drugs. Before increasing the immunosuppressive drug dosage, initial screening of infectious cytomegalovirus and comprehensive evaluation for surgical conditions are essential in pediatric PAN with severe gastrointestinal involvement. Early aggressive treatment for acute abdomen is useful in reducing morbidity and mortality in pediatric PAN.
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Enteritis , Poliarteritis Nudosa , Dolor Abdominal/etiología , Adulto , Niño , Citomegalovirus , Enteritis/complicaciones , Enteritis/diagnóstico , Enteritis/tratamiento farmacológico , Humanos , Inmunosupresores/efectos adversos , Isquemia/diagnóstico por imagen , Isquemia/tratamiento farmacológico , Poliarteritis Nudosa/complicaciones , Poliarteritis Nudosa/diagnóstico , Poliarteritis Nudosa/tratamiento farmacológicoRESUMEN
OBJECTIVES: To describe the effectiveness and safety of biologics for the treatment of relapsing and/or refractory polyarteritis nodosa (PAN). METHODS: A retrospective European collaborative study was conducted in patients with PAN who received biologics for relapsing and/or refractory disease. RESULTS: Forty-two patients with PAN received a total of 53 biologic courses, including TNF-α blockers in 15 cases, rituximab (RTX) in 18 cases, tocilizumab (TCZ) in 10 cases and other biologics in 10 cases. TNF-α blockers and TCZ were mainly used for refractory diseases whereas RTX was mainly initiated for relapsing disease. After a median follow-up of 29 (8-50) months, remission, partial response, treatment failure and treatment discontinuation due to severe adverse events occurred in, respectively, 40%, 13%, 40% and 7% of patients receiving TNF-α blockers, 50%, none, 30% and 20% of TCZ recipients, and 33%, 11%, 56% and none of the RTX recipients. No remission was noted in patients treated with other biologics. Severe adverse events were observed in 14 (28%) patients without significant differences between the three biologics, leading to early biologics discontinuation in only three cases. CONCLUSION: These results suggest that TCZ may be effective in relapsing and/or refractory PAN. Our data warrant further study to confirm these findings.