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Rare Diseases

EULAR 2023 – Day 2 Report

Jun 01, 2023

Day 2 at the international EULAR Congress meeting is always bigger and busier. There were sessions on JIA therapies, crystal arthritis, novel drugs for SLE and Sjogren's, early RA and preclinical RA interventions, IgG4 disease, osteoporosis and the growth and application of artificial

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AOSD: Young vs. Elderly Onset

Adult onset still's disease (AOSD) is an autoinflammatory condition characterized by fevers, arthritis, and rash. It is considered an orphan disease because of its low prevalence - it is reported anywhere between 16 to 40 per ten million. Traditionally, a bimodal distribution by age has been

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Belimumab in Lupus Nephritis

May 29, 2023

Belimumab is a B-lymphocyte stimulator (BLyS)-specific inhibitor that is FDA approved for the treatment of active lupus and lupus nephritis, based on a few pivotal trials; and now a metanalysis supports its use in active lupus nephritis.

A meta-analysis and systematic review of six

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How Age of Onset Affects Giant Cell Arteritis

MedPage Today
May 23, 2023

Giant cell arteritis (GCA) has a different phenotype when diagnosed late in life compared with earlier onset, a large Italian cohort study indicated.

Features of what might be called "senior GCA" include increased rates of cranial symptoms, a markedly higher risk for aortic aneurysm

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International Consensus on ANCA-Associated Vasculitis with Glomerulonephritis

May 22, 2023

Nephrology Dialysis Transplantation has published an overview of the management of anti-neutrophil cytoplasmic antibody associated vasculitis with glomerulonephritis based on several international guidelines, including those frorm the ACR 2021, EULAR 2022 and KDIGO 2021 (Kidney Disease:

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Allergic Drug-Induced Arthritis (5.19.2023)

May 19, 2023

Dr. Jack Cush reviews the news and journal reports from this past week on  This week we delve into some odd associations, repeat drug warnings and the consequences of antirheumatic therapies.

  1. Subanalysis of the tofacitinib ORAL Surveillance study shows the JAK

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Juvenile and Adult-onset Scleroderma Differ A retrospecitve cohort comparision of juvenile (jSSc) and adult-onset (aSSc) systemic sclerosis (SSc) are both rare but present differently.

Evidence-Based Guidelines for EGPA

May 16, 2023

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare form of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, affecting between 10 and 14 cases per million globally. This adult disorder has a mean age at diagnosis of nearly 50 years and affects both sexes equally,

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Juvenile and Adult-onset Scleroderma Differ

May 15, 2023

A retrospecitve cohort comparision of juvenile (jSSc) and adult-onset (aSSc) systemic sclerosis (SSc) are both rare but present differently.  

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Low Risk of Venous Thromboembolism with IVIG and Dermatomyositis A cohort study analyzed the risk of venous thromboembolism (VTE) in dermatomyositis (DM) patients treated with intravenous immunoglobulin (IVIG).

Orphan drugs target rare dz <200k. New drugs (2008-2016) compared 5 yr sales 86 orphan Rx to 232 non-orphan = similar sales- Orphan ($719 mill) vs nonorphan ($812 mill). But orphan Rx lower volume offset by higher prices (7X higher) than nonorphan drugs

2022 EULAR Recommendations on Screening and Prophylaxis for Opportunistic Infections

May 11, 2023

Opportunistic and chronic infections may be rare and are often difficult to diagnose, especially in patients with autoimmune inflammatory rheumatic diseases (AIIRD), that may be immunocompromised. A EULAR task force has established recommendations for screening and prophylaxis against OI. 

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Low Risk of Venous Thromboembolism with IVIG and Dermatomyositis

May 11, 2023

A cohort study analyzed the risk of venous thromboembolism (VTE) in dermatomyositis (DM) patients treated with intravenous immunoglobulin (IVIG).

Previous studies have shown an increased risk of VTE in DM patients, usually within 2 years of onset. Moreover, the FDA has recently

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Downs Syndrome (1/700) & autoimmune mechanisms - Downs has a 4-6 fold higher risk of JIA, type 1 diabetes, autoimmune thyroid disease and coeliac disease.

Prevalence and Mortality of IgG4-related disease in the USA

May 04, 2023

A current review of the epidemiology of IgG4-related disease (IgG4-RD) in the USA shows a low prevalence with possibly increasing numbers, owing to increasing awareness of this unique immune-mediated condition.

Epidemiologic data and outcomes were gleaned from analysis of commercial

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Treatment and Management of Neuropsychiatric Lupus

May 02, 2023

On the first day of ACR State of the Art conference in Orlando, Florida, Dr. Michelle Petri reviewed the treatment and management of neuropsychiatric lupus. Dr. Petri, a lupus expert from Johns Hopkins Rheumatology, reviewed the latest clinical and animal model studies that offer hope in

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National Population Insights (4.28.2023)

Apr 28, 2023

Dr. Jack Cush reviews the news and journal reports and addresses 3 viewer case questions.

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Aging Mechanisms Tied to Giant Cell Arteritis

MedPage Today
Apr 20, 2023

Senescence pathways are involved in giant cell arteritis (GCA), an analysis of patient tissue samples suggested, which may account for the efficacy of one agent now used for the disease and another in commercial development.

Temporal artery biopsy samples from GCA patients showed

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The Match Game (4.14.2023)

Apr 14, 2023

Dr. Jack Cush reviews the news and journal articles from the past week on, including Rheumatology success in the NRMP MATCH, Cocaine vasculitis and worrisome safety risks with Biologics and tsDMARDs.

  1. 2023 NRMP Match: 365 applicants for Rheum; 97.8% (265 of 271

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Olmstead Co. population study: Clinically Isolated Aortitis (CIA) saw 8 cases over 20 yrs; incidence of 8.9 per 1,000,000over age 50 yrs. 6 of 8 were female, mean age 76yrs; all Dx @ ascending aortic aneurysm repair. Having CIA did not affect mortality.

Steroid-Sparing Rituximab in Polymyalgia Rheumatica

Apr 04, 2023

BRIDGE-PMR proof-of-concept trial assessed the efficacy of rituximab (RTX) in patients with polymyalgia rheumatica (PMR) and showed that a single 1000 mg dose of lead to a significant number of glucocorticoid-free remissions after 1 year. 

BRIDGE-PMR was a 21 week randomised

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British Society of Rheumatology Plans Revision of Systemic Sclerosis Guideline

Apr 04, 2023

British Society for Rheumatology (BSR) last published its guideline for systemic sclerosis (SSc) in 2016. Given the many advances in the field the BSR has outlined their plans to update the management of SSc.

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LAVLI - A New Autoinflammatory Disorder

Mar 28, 2023

NIH researchers have have described a novel autoinflammatory disorder called "Lyn kinase-associated vasculopathy and liver fibrosis" (LAVLI), based on a mutation in the LYN gene (that encodes the Lyn kinase protein). They discovered that increased Lyn kinase activity promotes systemic

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2022 EULAR Recommendations for ANCA-associated Vasculitis

Mar 16, 2023

EULAR has published the 2022 update on recommendations for the management of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV).

AAV recommendations were last published in 2016, and since, research and clinical trials have advanced our understanding of AAV.  A

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Long-Term Survival of Idiopathic Inflammatory Myopathies

Mar 09, 2023

A single center cohort study analyzed the outcome and survival of idiopathic inflammatory myositis (IIM) patients and showed good 5 and 10 year survival but showed significant declined 15-25 years post-diagnosis.

This was a retrospective single-centre analysis of IIM patients

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