scholarly journals Sensory-Motor Polyneuropathy and Digital Ischemia: A Rare Presentation of Granulomatosis with Polyangiitis

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Wasundara Wathurapatha ◽  
B. G. A. Rathnamali ◽  
Upul Dissanayake
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
Renal Involvement ◽  
Immunosuppressive Treatment ◽  
Lower Limbs ◽  
Rare Presentation ◽  
Clinical Criteria ◽  
Sensorimotor Polyneuropathy ◽  
Digital Ischemia ◽  
Sensory Motor ◽  
Peripheral Sensory

Granulomatosis with polyangiitis (GPA) typically presents with upper or lower respiratory tract symptoms and/or with renal involvement. Although it can affect the peripheral nervous system frequently, with mononeuritis multiplex being the most common pattern, the occurrence of peripheral sensory-motor polyneuropathy as a presenting manifestation is distinctly rare. Prevalence of digital gangrene is also extremely rare in GPA. We describe a 46-year-old woman presenting with severe peripheral sensorimotor polyneuropathy affecting bilateral lower limbs preceded by a purpuric skin rash and multiple painful ulcers confined to the lower limbs. She had evidence of digital ischemia affecting multiple toes and dry gangrene of the left 4th toe. Diagnosis of GPA was made based on skin biopsy, positive ANCA serology, and clinical criteria. She made a good recovery following aggressive immunosuppressive treatment with methylprednisolone and cyclophosphamide and was maintained on prednisolone and azathioprine. This case highlights the importance of suspecting GPA in a patient presenting with sensorimotor polyneuropathy and/or digital ischemia even in the absence of more classic presenting features and underlies the necessity of accurate differential diagnosis in evaluating a case of peripheral neuropathy.

scholarly journals A Rare Case of Digital Ischemia and Gangrene in ANCA-Associated Vasculitis with Review of the Literature

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Richard A. Lau ◽  
Ramandeep Bains ◽  
Duminda Suraweera ◽  
Jane Ma ◽  
Emil R. Heinze ◽  
...  
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
English Literature ◽  
Renal Involvement ◽  
Antineutrophil Cytoplasmic Antibody ◽  
High Dose ◽  
Eosinophilic Granulomatosis With Polyangiitis ◽  
Proteinase 3 ◽  
Anca Associated Vasculitis ◽  
Digital Ischemia

This paper describes one patient with Antineutrophil Cytoplasmic Antibody- (ANCA-) associated vasculitis who initially presented with multiple ischemic fingers and toes. On further evaluation, the patient was also found to have pulmonary-renal involvement and episcleritis. The diagnosis was supported with a positive cANCA (anti-proteinase 3) and a bronchoscopy consistent with diffuse alveolar hemorrhage. Although the patient refused a tissue biopsy, clinical presentation including nasal ulceration, sinus congestion, and epistaxis and anti-proteinase 3 antibody were more consistent with Granulomatosis with Polyangiitis (GPA) rather than Microscopic Polyangiitis (MPA) or Eosinophilic Granulomatosis with Polyangiitis (EGPA) based on the recently presented ACR/EULAR Provisional 2017 Classification Criteria for GPA (Luqmani et al., 2016). The patient responded well to therapy including high dose steroids and cyclophosphamide, with improvement of all organs involved and had no further digital ischemia or gangrene on follow-up. We include a review of the English literature summarizing presentation, management, and outcome of 16 similar cases.

MO324A RARE CASE OF GRANULOMATOSIS WITH POLYANGIITIS ASSOCIATED WITH FACTOR II DEFICIENCY

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Yosra Elouaer ◽  
Dorsaf Zellama ◽  
Salma Toumi ◽  
Mohamed Riadh Troudi ◽  
Rahma Guesmi ◽  
...  
Keyword(s):  
Plasma Exchange ◽  
Granulomatosis With Polyangiitis ◽  
Maxillary Sinusitis ◽  
Immunosuppressive Treatment ◽  
Rapidly Progressive Glomerulonephritis ◽  
Hypochromic Anemia ◽  
Lower Limbs ◽  
University Hospital ◽  
Cerebral Magnetic Resonance Imaging ◽  
Factor Ii

Abstract Background and Aims Granulomatosis with polyangiitis (GPA) (formerly called Wegener's) is a systemic disorder that is characterized by necrotizing vasculitis of small arteries and veins. The kidney damage is severe. We report an observation of a young patient whose exploration of rapidly progressive renal failure revealed GPA with an original association with factor II deficiency. Method This a case report of a patient who was admitted to the nephrology, dialysis and transplantation in the sahloul university hospital in Tunisia. She was transferred from the regional hospital of sidi bouzid. Results This a case of a 19-year-old patient. She had the only a history of allergic rhinitis. She presented recently epistaxis and headache. The explorations reported a kidney failure with level of creatinine at 5.6 mg/dl. On examination: The blood pressure was normal (120/70 mmHg), she had signs of acute sinusitis and edema in both lower limbs and she developed anuria. For the biology: creatinine = 11.3 mg/dl (clearance = 4.6 ml/min), urea = 50 mmol/l, Proteinuria = 2.5 g/24h and Hematuria = 100/mm3. The cANCA type PR3 was positive. The diagnosis of rapidly progressive glomerulonephritis (RPGN) was suspected. She had microcytic hypochromic anemia of 6.9 g/dL and a low Prothrombin time (PT) of 54%. The exploration concluded to an isolated Factor II deficiency (59%). The Ear, Nose and throat (ENT) examination revealed nasal inflammation, sinusitis and nasal crusting. The kidney ultrasound showed two kidneys of normal size. The computed tomography showed bilateral maxillary sinusitis and there were no intra-alveolar hemorrhage. The Kidney biopsy could not be performed initially due to the risk of bleeding. On hospitalization, the patient presented a generalized tonic clonic seizures. The exploration by a cerebral Magnetic resonance imaging (MRI) showed signs of cerebral vasculitis and the electroencephalography (EEG) showed no focal abnormalities. The association of ENT involvement, the cerebrovascular disease, the rapid evolution of the creatinine, the positivity of the cANCA, the diagnosis of granulomatosis with polyangiitis was established. The therapeutic management was to start symptomatic treatment: diuretics, antibiotic therapy, transfusions, hemodialysis initially and antiepileptic therapy. The immunosuppressive treatment was based on pulses of methylprednisolone followed by full dose corticosteroid therapy, cyclophosphamide intravenous and sessions of plasma exchange. The evolution was characterized by clinical and biological improvement with creatinine = 1.3 mg/dl, a PT at 100% and a factor II at 70 % stable after stopping the plasma exchange in favor of the immunological cause of this deficit. Conclusion The early diagnosis and treatment of RPGN is important even if the biopsy cannot be performed. We reported a rare association between granulomatosis with polyangiitis and factor II deficiency. The normalization of the factor II after the treatment is in favor of the immunological cause of this deficit.

scholarly journals POS0119 RENAL INVOLVEMENT AND NEED OF RENAL REPLACEMENT THERAPY IN ANCA ASSOCIATED VASCULITIS IN A SPANISH SINGLE-CENTER STUDY

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 270.2-271
Author(s):  
J. Álvarez Troncoso ◽  
J. C. Santacruz Mancheno ◽  
A. Díez Vidal ◽  
S. Afonso Ramos ◽  
A. Noblejas Mozo ◽  
...  
Keyword(s):  
Renal Replacement Therapy ◽  
Replacement Therapy ◽  
Granulomatosis With Polyangiitis ◽  
Renal Involvement ◽  
Age At Diagnosis ◽  
Systemic Involvement ◽  
Risk Of Death ◽  
Anca Associated Vasculitis ◽  
The Mean

Background:Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV) include granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EPGA). Renal involvement is frequent in AAV and is an important factor for morbidity and mortality.Objectives:The main objective of this study was to analyze the demographic, clinical, histological and therapeutic characteristics of renal involvement in patients with AAV and the risk of renal replacement therapy (RRT) or death.Methods:Retrospective observational study of 56 patients with AAV fulfilling classificatory criteria and renal involvement diagnosed between 1995 and 2020 from a Spanish tertiary centre. We studied the histological involvement (according to the 2010 classification in focal, crescentic, mixed or sclerotic), immunofluorescence (IF) and the treatment received with the risk of RRT or death.Results:We included 56 patients diagnosed with AAV and renal involvement. The mean age was 61.08±4.05 years; 58.9% were women. The mean follow-up time of these patients was 16.14± 8.80 years. Only 57.1% of patients presented systemic involvement.Most frequent non-renal AAV manifestations were lung involvement (39.3%), central nervous system (30.4%), otorhinolaryngology (ORL) (14.3%), skin (8.9%) and cardiac involvement (8.9%). Main immunological findings were ANCA-MPO+ (69.6%), ANCA-PR3+ (23.2%), ANCA-negative (5.4%). Low C3 was found in 19.6% patients. Histologic classification (HC) and need of RRT is described in table 1. Main HC in renal AAV was crescentic, mixed, focal and sclerotic respectively. Eight patients had not biopsy performed. IF was positive for C3 deposits in 20 patients (35.7%). Half of the patients presented <50% normal glomeruli.The treatment of renal involvement in AAV in our cohort was as follows: 83.9% (47) corticosteroids (CS) and cyclophosphamide (of which 40 received intravenous and 7 oral cyclophosphamide; and 12 patients associated plasma exchange (PE) with this treatment), 5.36% CS alone, 2 patients received CS and mycophenolate; 1 CS and rituximab, 1 CS and PE, and 2 patients received no treatment. A total of 13 patients received PE and 18 RRT. The mean time to RRT was 65.44±32.72 months. Relapses were not uncommon, 33.93% of the patients presented ≥1 relapse and 10.71% presented ≥2.Infections were very frequent since they were present in 91.07% of the patients. Other frequent non-immunological complications observed in the follow-up of these patients were thrombosis in 31.14%, cardiovascular events in 28.57% and cancer in 19.64%.Patients with ANCA-PR3+ were younger at diagnosis (p<0.001), were more likely to present cardiac (p=0.045) and ORL involvement (p<0.001). However, neither ANCA-PR3+ nor ANCA-MPO+ were specifically associated with the need of RRT or higher risk of death in our cohort. Use of CS alone for the treatment of renal AAV was associated with higher mortality (p=0.006) but CS and cyclophosphamide with lower mortality (p=0.044). ANCA-negative patients were more likely to receive no treatment. Having <50% normal glomeruli and C3 deposits on IF were associated with an increased need for RRT. Presenting focal disease on HC was protective for the need of RRT. Older age at diagnosis, systemic involvement of AAV and need of RRT was associated with higher mortality.Conclusion:AAVs are complex vasculitides with frequent renal involvement. Increased C3 deposition, non-focal histological forms, and <50% normal glomeruli were related to the need for RRT. In turn, the need for RRT, a later age at diagnosis, and systemic involvement were associated with higher mortality. Holistic and multidisciplinary early management of AAVs in experience centers can help improve renal prognosis and decrease mortality.References:[1]Binda et al. ANCA-associated vasculitis with renal involvement. J Nephrol. 2018 Apr;31(2):197-208.[2]Kronbichler et al. Clinical associations of renal involvement in ANCA-associated vasculitis. Autoimmun Rev. 2020 Apr;19(4):102495.Disclosure of Interests:None declared

scholarly journals Eosinophilic Granulomatosis with Polyangiitis Presenting with Myocarditis as an Initial Symptom: A Case Report and Review of the Literature

2021 ◽  
pp. 329-333
Author(s):  
Kanako Kurihara ◽  
Jun Tsugawa ◽  
Shinji Ouma ◽  
Toshiyasu Ogata ◽  
Mikiko Aoki ◽  
...  
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
Nerve Biopsy ◽  
Pulse Therapy ◽  
Sural Nerve Biopsy ◽  
Lower Limbs ◽  
Rapid Progression ◽  
Eosinophilic Granulomatosis With Polyangiitis ◽  
Initial Symptom ◽  
Steroid Pulse ◽  
Eosinophilic Granulomatosis

A 66-year-old woman with a history of bronchial asthma had shortness of breath and fatigue upon mild exercise. She was diagnosed as congestive heart failure. A blood test showed eosinophilia without the presence of anti-neutrophil cytoplasmic antibody (ANCA), and a myocardial biopsy specimen revealed eosinophilic infiltration in the myocardium. Eosinophilia was improved when she was administered short-term methylprednisolone. After that, she had numbness and pain in her lower limbs with re-elevation of eosinophils. She had dysesthesia and hypalgesia in the distal part of the limbs. Sural nerve biopsy revealed axonal degeneration and thickness of the arterial wall, indicating a diagnosis of eosinophilic granulomatosis with polyangiitis (EGPA). Two courses of steroid pulse therapy were performed, resulting in marked improvement of her sensory symptoms. ANCA-negative EGPA might be associated with myocarditis and peripheral neuropathy. A sufficient immunotherapy should have been considered to prevent rapid progression.

Alterations of serum levels of plasminogen, TNF-α, and IDO in granulomatosis with polyangiitis patients

Vascular ◽  
2021 ◽  
pp. 170853812098630
Author(s):  
Dobroslav Kyurkchiev ◽  
Tsvetelina Yoneva ◽  
Adelina Yordanova ◽  
Ekaterina Kurteva ◽  
Georgi Vasilev ◽  
...  
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
Renal Involvement ◽  
Clinical Manifestations ◽  
Area Under The Curve ◽  
Serum Levels ◽  
Necrosis Factor Alpha ◽  
Cross Sectional ◽  
Spearman's Rho ◽  
Tnf Α ◽  
Spearman’S Rho

Background Granulomatosis with polyangiitis (GPA) is a representative of vasculitides associated with anti-neutrophil cytoplasmic autoantibodies. “Classical” antibodies directed against proteinase 3 are involved in the pathogenesis and are part of the GPA diagnosis at the same time. Along with them, however, antibodies against Lysosomal-Associated Membrane Protein-2 (LAMP-2) and antibodies directed against plasminogen have been described in GPA. Objectives and methodology: We performed a cross-sectional study enrolling 34 patients diagnosed with GPA. Our study was aimed at looking for correlations between serum levels of LAMP-2 and plasminogen and the clinical manifestations of the GPA. Furthermore, we examined serum levels of tumor necrosis factor-alpha (TNF-α) and its associated indoleamine-pyrrole 2,3-dioxygenase (IDO), as well as we looked for a correlation between these cytokines and the clinical manifestations of GPA. Results The results showed that in GPA, serum plasminogen levels were negatively associated with renal involvement (receiver operating characteristic (ROC) area under the curve (AUC) of 0.78) (95% CI 0.53–0.91), p = 0.035, and the extent of proteinuria, Spearman’s Rho = –0.4, p = 0.015. Increased levels of TNF-α and IDO correlated with disease activity, Spearman’s Rho =0.62, p = 0.001 and Spearman’s Rho = 0.4, p = 0.022, respectively, whereas only TNF-α was increased in severe forms of GPA with lung involvement (ROC AUC of 0.8) (95% CI 0.66–0.94), p = 0.005. Conclusions In this study, we demonstrate the alteration of soluble factors, which play an important role in the pathogenesis of GPA and their relationship with the clinical manifestations of the disease. Our main results confirm the associations of increased secretory TNF-α and some clinical manifestations, and we describe for the first time decreased serum plasminogen levels and their association with renal involvement.

A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Raquel Lahoz Alonso ◽  
Paula Sienes Bailo ◽  
Jose Luis Capablo Liesa ◽  
Sara Álvarez de Andrés ◽  
Jose Luis Bancalero Flores ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Neurological Disease ◽  
Motor Impairment ◽  
Lower Limbs ◽  
Case Presentation ◽  
Genetic Sequencing ◽  
Charcot Marie Tooth ◽  
Sensory Motor ◽  
Exacerbation Of Symptoms ◽  
Over Time

AbstractObjectivesDescribe a case with axonal Charcot-Marie-Tooth (CMT) type 2W, a neurological disease characterized by peripheral neuropathy typically involving the lower limbs and causing gait alterations and distal sensory-motor impairment.Case presentationWe report this case, where the application of massive genetic sequencing (NGS) with clinical exome in a molecular genetics laboratory enabled to detect the presence of candidate variants of the clinic of the patient.ConclusionsThe variant detected in HARS gene suggests that this variant could be causative of the symptoms of the patient, who went undiagnosed for 20 years and experienced an exacerbation of symptoms over time.

scholarly journals Anca-associated crescentic glomerulonephritis in a child with isolated renal involvement

2019 ◽  
Vol 41 (2) ◽  
pp. 293-295
Author(s):  
Mehtap Ezel Çelakıl ◽  
Burcu Bozkaya Yücel ◽  
Umay Kiraz Özod ◽  
Kenan Bek
Keyword(s):  
Crescentic Glomerulonephritis ◽  
Renal Involvement ◽  
Immunosuppressive Treatment ◽  
Antineutrophil Cytoplasmic Antibody ◽  
Normal Serum ◽  
Laboratory Findings ◽  
Elevated Creatinine ◽  
Systemic Symptoms ◽  
Mild Clinical Presentation ◽  
Normal Serum Creatinine

ABSTRACT Pauci-immune glomerulonephritis (GN) is more common in elderly people compared to children and the etiology is not completely understood yet. Antineutrophil cytoplasmic antibody (ANCA) positivity occurs in 80% of the patients. We report a case of a 7-year-old girl who presented with malaise and mildly elevated creatinine diagnosed as ANCA-associated pauci-immune crescentic glomerulonephritis with crescents in 20 of 25 glomeruli (80%). Of these 20 crescents, 12 were cellular, 4 fibrocellular, and 4 globally sclerotic. She did not have purpura, arthritis, or systemic symptoms and she responded well to initial immunosuppressive treatment despite relatively severe histopathology. The patient was given three pulses of intravenous methylprednisolone (30 mg/kg on alternate days) initially and continued with cyclophosphamide (CYC; 2 mg/kg per day) orally for 3 months with prednisone (1 mg/kg per day). In one month, remission was achieved with normal serum creatinine and prednisone was gradually tapered. The case of this child with a relatively rare pediatric disease emphasizes the importance of early and aggressive immunosuppressive treatment in patients with renal-limited ANCA-associated pauci-immune crescentic GN even if with a mild clinical presentation. As in our patient, clinical and laboratory findings might not always exactly reflect the severity of renal histopathology and thus kidney biopsy is mandatory in such children to guide the clinical management and predict prognosis.

scholarly journals A RARE PRESENTATION OF GRANULOMATOSIS WITH POLYANGIITIS MIMICKING CERVICAL CANCER

2019 ◽  
Author(s):  
ANA JULIA FURBINO DIAS BICALHO ◽  
DEBORAH LOBATO GUIMARAES ◽  
HENRIQUE VALLADAO PIRES GAMA ◽  
MOISES SALGADO PEDROSA ◽  
DANIELA DE SOUZA BRAGA ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Granulomatosis With Polyangiitis ◽  
Rare Presentation
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