Pure White Cell Aplasia Complicated by Systemic Sclerosis with Accompanying Scleroderma Renal Crisis: A Case Report

Background:Scleroderma renal crisis (SRC) is a life-threatening syndrome. The early identification of patients at risk is essential for timely treatment to improve the outcome[1].Objectives:We aimed to provide a personalized tool to predict risk of SRC in systemic sclerosis (SSc).Methods:We tried to set up a SRC prediction model based on the PKUPH-SSc cohort of 302 SSc patients. The least absolute shrinkage and selection operator (Lasso) regression was used to optimize disease features. Multivariable logistic regression analysis was applied to build a SRC prediction model incorporating the features of SSc selected in the Lasso regression. Then, a multi-predictor nomogram combining clinical characteristics was constructed and evaluated by discrimination and calibration.Results:A multi-predictor nomogram for evaluating the risk of SRC was successfully developed. In the nomogram, four easily available predictors were contained including disease duration <2 years, cardiac involvement, anemia and corticosteroid >15mg/d exposure. The nomogram displayed good discrimination with an area under the curve (AUC) of 0.843 (95% CI: 0.797-0.882) and good calibration.Conclusion:The multi-predictor nomogram for SRC could be reliably and conveniently used to predict the individual risk of SRC in SSc patients, and be a step towards more personalized medicine.References:[1]Woodworth TG, Suliman YA, Li W, Furst DE, Clements P (2016) Scleroderma renal crisis and renal involvement in systemic sclerosis. Nat Rev Nephrol 12 (11):678-91.Disclosure of Interests:None declared

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French recommendations for the management of systemic sclerosis

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01844-y ◽

2021 ◽

Vol 16 (S2) ◽

Author(s):

Eric Hachulla ◽

Christian Agard ◽

Yannick Allanore ◽

Jerome Avouac ◽

Brigitte Bader-Meunier ◽

...

Keyword(s):

Systemic Sclerosis ◽

Proximal Region ◽

Scleroderma Renal Crisis ◽

Cardiac Damage ◽

Favorable Prognosis ◽

Causes Of Mortality ◽

Cutaneous Form ◽

Pulmonary Arterial ◽

Renal Crisis ◽

Severe Pulmonary Arterial Hypertension

AbstractSystemic sclerosis (SSc) is a generalized disease of the connective tissue, arterioles, and microvessels, characterized by the appearance of fibrosis and vascular obliteration. There are two main phenotypical forms of SSc: a diffuse cutaneous form that extends towards the proximal region of the limbs and/or torso, and a limited cutaneous form where the cutaneous sclerosis only affects the extremities of the limbs (without passing beyond the elbows and knees). There also exists in less than 10% of cases forms that never involve the skin. This is called SSc sine scleroderma. The prognosis depends essentially on the occurrence of visceral damage and more particularly interstitial lung disease (which is sometimes severe), pulmonary arterial hypertension, or primary cardiac damage, which represent the three commonest causes of mortality in SSc. Another type of involvement with poor prognosis, scleroderma renal crisis, is rare (less than 5% of cases). Cutaneous extension is also an important parameter, with the diffuse cutaneous forms having less favorable prognosis.

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Vascular Complications of Systemic Sclerosis during Pregnancy

International Journal of Rheumatology ◽

10.1155/2010/287248 ◽

2010 ◽

Vol 2010 ◽

pp. 1-5 ◽

Cited By ~ 14

Author(s):

Eliza F. Chakravarty

Keyword(s):

Systemic Sclerosis ◽

Pulmonary Arterial Hypertension ◽

Pregnancy Outcomes ◽

Vascular Complications ◽

Autoimmune Disorder ◽

Morbidity And Mortality ◽

Scleroderma Renal Crisis ◽

Hemodynamic Changes ◽

Pulmonary Arterial ◽

Renal Crisis

Systemic sclerosis (SSc) is a chronic autoimmune disorder characterized by progressive fibrosis of the skin and visceral tissues as well as a noninflammatory vasculopathy. Vascular disease in systemic sclerosis is a major cause of morbidity and mortality among nonpregnant patients with SSc and is even a bigger concern in the pregnant SSc patient, as the underlying vasculopathy may prevent the required hemodynamic changes necessary to support a growing pregnancy. Vascular manifestations including scleroderma renal crisis and pulmonary arterial hypertension should be considered relative contraindications against pregnancy due to the high associations of both maternal and fetal morbidity and mortality. In contrast, Raynaud's phenomenon may actually improve somewhat during pregnancy. Women with SSc who are considering a pregnancy or discover they are pregnant require evaluation for the presence and extent of underlying vasculopathy. In the absence of significant visceral vasculopathy, most women with SSc can expect to have reasonable pregnancy outcomes.

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Alveolar Hemorrhage and Pulmonary Hypertension in Systemic Sclerosis: A Continuum of Scleroderma Renal Crisis?

JCR Journal of Clinical Rheumatology ◽

10.1097/00124743-200104000-00013 ◽

2001 ◽

Vol 7 (2) ◽

pp. 115-119 ◽

Cited By ~ 1

Author(s):

Thomas M. Herndon ◽

Theodore T. Kim ◽

Bruce E. Goeckeritz ◽

Lisa K. Moores ◽

Robert J. Oglesby ◽

...

Keyword(s):

Pulmonary Hypertension ◽

Systemic Sclerosis ◽

Alveolar Hemorrhage ◽

Scleroderma Renal Crisis ◽

Renal Crisis

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Analysis of Anti-RNA Polymerase III Antibody-positive Systemic Sclerosis and Altered GPATCH2L and CTNND2 Expression in Scleroderma Renal Crisis

The Journal of Rheumatology ◽

10.3899/jrheum.190945 ◽

2020 ◽

Vol 47 (11) ◽

pp. 1668-1677

Author(s):

Edward P. Stern ◽

Sandra G. Guerra ◽

Harry Chinque ◽

Vanessa Acquaah ◽

David González-Serna ◽

...

Keyword(s):

Systemic Sclerosis ◽

Rna Polymerase ◽

Renal Biopsy ◽

Genetic Susceptibility ◽

Rna Polymerase Iii ◽

Human Kidney ◽

Scleroderma Renal Crisis ◽

Nucleotide Polymorphisms ◽

Polymerase Iii ◽

Renal Crisis

ObjectiveScleroderma renal crisis (SRC) is a life-threatening complication of systemic sclerosis (SSc) strongly associated with anti-RNA polymerase III antibody (ARA) autoantibodies. We investigated genetic susceptibility and altered protein expression in renal biopsy specimens in ARA-positive patients with SRC.MethodsARA-positive patients (n = 99) with at least 5 years’ follow-up (49% with a history of SRC) were selected from a well characterized SSc cohort (n = 2254). Cases were genotyped using the Illumina Human Omni-express chip. Based on initial regression analysis, 9 single-nucleotide polymorphisms (SNP) were chosen for validation in a separate cohort of 256 ARA-positive patients (40 with SRC). Immunostaining of tissue sections from SRC or control kidney was used to quantify expression of candidate proteins based upon genetic analysis of the discovery cohort.ResultsAnalysis of 641,489 SNP suggested association of POU2F1 (rs2093658; P = 1.98 × 10−5), CTNND2 (rs1859082; P = 5.58 × 10−5), HECW2 (rs16849716; P = 1.2 × 10−4), and GPATCH2L (rs935332; P = 4.92 × 10−5) with SRC. Further, the validation cohort showed an association between rs935332 within the GPATCH2L region, with SRC (P = 0.025). Immunostaining of renal biopsy sections showed increased tubular expression of GPATCH2L (P = 0.026) and glomerular expression of CTNND2 (P = 0.026) in SRC samples (n = 8) compared with normal human kidney controls (n = 8), despite absence of any genetic replication for the associated SNP.ConclusionIncreased expression of 2 candidate proteins, GPATCH2L and CTNND2, in SRC compared with control kidney suggests a potential role in pathogenesis of SRC. For GPATCH2L, this may reflect genetic susceptibility in ARA-positive patients with SSc based upon 2 independent cohorts.

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A Case of Early Onset Normotensive Scleroderma Renal Crisis in a Patient with Diffuse Cutaneous Systemic Sclerosis

Southern Medical Journal ◽

10.1097/01.smj.0000229871.68911.67 ◽

2006 ◽

Vol 99 (8) ◽

pp. 870-872 ◽

Cited By ~ 7

Author(s):

Hany G. Bashandy ◽

Jason S. Javillo ◽

Steven R. Gambert

Keyword(s):

Systemic Sclerosis ◽

Early Onset ◽

Scleroderma Renal Crisis ◽

Diffuse Cutaneous Systemic Sclerosis ◽

Renal Crisis

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Scleroderma Renal Crisis (SRC) in the Setting of Systemic Sclerosis Sine Scleroderma (ssSSc) in Pregnancy

American Journal of Kidney Diseases ◽

10.1053/j.ajkd.2017.02.119 ◽

2017 ◽

Vol 69 (4) ◽

pp. A44

Keyword(s):

Systemic Sclerosis ◽

Scleroderma Renal Crisis ◽

Renal Crisis ◽

In Pregnancy

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Prevalence, Correlates and Outcomes of Gastric Antral Vascular Ectasia in Systemic Sclerosis: A EUSTAR Case-control Study

The Journal of Rheumatology ◽

10.3899/jrheum.130386 ◽

2013 ◽

Vol 41 (1) ◽

pp. 99-105 ◽

Cited By ~ 56

Author(s):

Etienne Ghrénassia ◽

Jérome Avouac ◽

Dinesh Khanna ◽

Chris T. Derk ◽

Oliver Distler ◽

...

Keyword(s):

Systemic Sclerosis ◽

Rna Polymerase ◽

Rna Polymerase Iii ◽

Scleroderma Renal Crisis ◽

Gastric Antral Vascular Ectasia ◽

Vascular Ectasia ◽

Polymerase Iii ◽

European League Against Rheumatism ◽

Vascular Phenotype ◽

Renal Crisis

Objective.To estimate the prevalence, determine the subgroups at risk, and the outcomes of patients with systemic sclerosis (SSc) and gastric antral vascular ectasia (GAVE).Methods.We queried the European League Against Rheumatism Scleroderma Trials and Research (EUSTAR) network for the recruitment of patients with SSc-GAVE. Each case was matched for cutaneous subset and disease duration with 2 controls with SSc recruited from the same center, evaluated at the time the index case made the diagnosis of GAVE. SSc characteristics were recorded at the time GAVE occurred and the last observation was collected to define the outcomes.Results.Forty-nine patients with SSc and GAVE were included (24 with diffuse cutaneous SSc) and compared to 93 controls with SSc. The prevalence of GAVE was estimated at about 1% of patients with SSc. By multivariate analysis, patients with SSc-GAVE more frequently exhibited a diminished (< 75%) DLCO value (OR 12.8; 95% CI 1.9–82.8) despite less frequent pulmonary fibrosis (OR 0.2; 95% CI 0.1–0.6). GAVE was also associated with the presence of anti-RNA-polymerase III antibodies (OR 4.6; 95% CI 1.2–21.1). SSc-GAVE was associated with anemia (82%) requiring blood transfusion (45%). Therapeutic endoscopic procedures were performed in 45% of patients with GAVE. After a median followup of 30 months (range 1–113 months), survival was similar in patients with SSc-GAVE compared to controls, but a higher number of scleroderma renal crisis cases occurred (12% vs 2%; p = 0.01).Conclusion.GAVE is rare and associated with a vascular phenotype, including anti-RNA-polymerase III antibodies, and a high risk of renal crisis. Anemia, usually requiring blood transfusions, is a common complication.

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