Saturday

What are the RARE Autoimmune Diseases?

Today I will be explaining which autoimmune diseases fit into the category of rare.

RARE Autoimmune Diseases

WHAT DOES RARE MEAN?

The European Union considers any disease to be rare when it affects less than 1 in 2,000 people. They estimate that rare diseases currently affect 3.5% - 5.9% of the worldwide population, an estimated 30 million people in Europe and 300 million worldwide. 

There are currently almost 7,000 rare diseases listed by the NIH. But these are not all autoimmune diseases.

Rare autoimmune diseases are any autoimmune disease that affects less than 1 in 2,000 people. Examples include Antiphospholipid Syndrome, Takayasu arteritis and Lambert-Eaton Myasthenic Syndrome or LEMS.

Estimating the global prevalence of rare autoimmune diseases is challenging because of the diversity of the data. This would include reviewing case reports, patient registries, U.S. databases, E.U. databases, expert opinions, and reviews. This is a large undertaking so I have listed the ones that are definitely known to be rare:

For more information on Rare Diseases, including those of an autoimmune nature go to NORD and GARD.

For organisations that support you if you have a Rare Diseases go to GARD

Find out more about Rare Disease Day






        Friday

        I have an autoimmune disease. Should I get a COVID - 19 vaccine?

        Should I get a COVID - 19 vaccine if I have autoimmune diseases?

         “One concern is whether a vaccine can trigger a flare of autoimmune disease or cause autoimmune disease in someone who’s susceptible,” says Sarfaraz Hasni, MD, director of the Lupus Clinical Research Program at the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health in Bethesda, Maryland. 

        Autoimmune flares are an increase in autoimmune conditions. 

        “Studies looking at large datasets have not conclusively been able to say that getting a vaccine can trigger an autoimmune disease or cause a flare, though anecdotal reports are there,” Hasni says. 

        What he means is that people have reported that the vaccine has caused a sudden onset of a flare of symptoms.

        The other area of concern: Can immunosuppressive drugs that help autoimmune patients manage their symptoms affect the body’s ability to mount a robust immune response to a Covid-19 vaccine?

        Perhaps, Poland says. “Under normal circumstances, the [Moderna and Pfizer] vaccines are 95% effective, so roughly 5% won’t respond,” he says. “That number is likely to be higher in people on immunosuppressants.”

        What he means is that having autoimmune conditions is not normal and they don't know but it is likely that more than 5% won't respond.

        Poland is Gregory Poland, MD, a vaccinologist at Mayo Clinic in Rochester, Minnesota, and the director of Mayo Clinic’s Vaccine Research Group. 

        “In some subset of autoimmune disorders, you don’t get enough immune response to vaccines, but it’s not true across the board,” Hasni adds. Important factors include the type of disease, whether it’s active or in remission, and, most critically, the kind of medications being taken.

        According to Hasni, three medications in particular can dampen an effective vaccine response:

        • Rituximab is a cytotoxic medication that kills B cells, which are responsible for forming antibodies. It’s generally given via infusion once every six months. “If we can delay giving that drug for two to four weeks and give the vaccine in that window, a person should be able to develop enough immunity,” Hasni says.
        • Methotrexate is used to treat multiple conditions and is administered weekly. If it can be held for two weeks before the vaccine is given and another two weeks afterward so the body can mount an immune response, that can be helpful, Hasni says. “But sometimes that’s not possible if a patient is flaring. In that case, you can still give the vaccine—it just may not be as effective as you’d hope.”
        • Prednisone or other steroids are commonly used across a range of autoimmune conditions and can blunt the immune response in high doses. “If someone is on 7.5 milligrams or more daily prednisone, their response might not be as good,” Hasni says. “If less than that, it’s usually not a problem.”

        As clinicians and researchers gather more data over time, there may be further recommendations regarding different vaccine dosing regimens or booster shots.

        SOURCE: Elemental article by Mo Perry 

        READ THE FULL ARTICLE HERE

        Saturday

        Risk of death among people with rare autoimmune diseases during COVID-19 pandemic

        A study was done to quantify the risk of death among people with rare autoimmune rheumatic diseases (RAIRD) during the UK 2020 COVID-19 pandemic compared with the general population, and compared with their pre-COVID risk.  In this article, we explain the importance of this research.

        COVID and RAIRD


        Rare autoimmune rheumatic diseases (RAIRD) can be split in two groups: 

        1. Connective tissue disorders: Lupus, scleroderma, myositis, primary Sjögren’s syndrome. 

        2. Systemic vasculitis: ANCA-associated vasculitis, giant cell arteritis, Takaysu’s Arteritis and Behcet’s disease. 

        Researchers from the University of Nottingham, Division of Epidemiology and the National Disease Registration Service at Public Health, England, conducted a study to quantify the risk for death in people with RAIRD during the COVID-19 pandemic. 

        Data from 168,691 people was collected. These people had a diagnosis of RAIRD and were alive on March 1, 2020. The general population mortality rates were accessed from the Office of National Statistics.

        The research showed that in March and April 2020 in the UK the risk of death among people with RAIRD :

        •  increased more than it did among the general population. 
        •  increased from the age of 35, rather than 55
        •  was not reduced by being female, as it does in the general population with COVID (see image below)
        deaths by age in COVID

        Dr Fiona Pearce, study co-author, said: “People with rare diseases often have poorer health outcomes generally, so we wanted to find out what impact the pandemic had. We now know that during the early months of the pandemic, people with these diseases were more likely to die than the general population.”

        “Women with rare autoimmune rheumatic diseases had a similar risk of death to men during COVID-19, whereas usually their risk of death is lower. The risk of working age people with rare autoimmune rheumatic diseases dying during COVID-19 was similar to that of someone 20 years older in the general population.” Pearce said.

        Other important findings, of this research include, the fact that, ‘COVID-age’ a tool used by workplaces to assess someone’s vulnerability to COVID-19, would “underestimate the risks particularly to young and/or female people with RAIRDs”. 
        Another planned COVID-19 risk prediction model commissioned by Office of the Chief Medical Officer for England to help GPs and clinicians give patients better advice about their risk from COVID-19 would also underestimate risk to people with RAIRDs. This is because the risk for people with RAIRDs is higher than people with other chronic conditions which these conditions have been grouped with. ~ RAIRDA

        Study Conclusion: The risk of all-cause death is more prominently raised during COVID-19 among people with RAIRD than among the general population. 
        We urgently need to quantify how much risk is due to COVID-19 infection and how much is due to disruption to healthcare services.



        SOURCES: 

        Risk of death among people with rare autoimmune diseases compared to the general population in England during the 2020 COVID-19 pandemic. 
      • PMID: 33271595
      •  
      • DOI: 10.1093/rheumatology/keaa855
      • The Rare Autoimmune Rheumatic Disease Alliance (RAIRDA)

        Healio Rheumatology

        Tuesday

        Rituximab treatment for myasthenia gravis

        Comparison between rituximab treatment for new-onset generalized myasthenia gravis and refractory generalized myasthenia gravis

        Brauner S, Eriksson-Dufva A, Hietala MA, et al
        JAMA Neurology|August 11, 2020

        This study was conducted at Karolinska University Hospital, Stockholm, Sweden. Data was collected on a county-based community sample of 72 patients exposed to rituximab early or later in the myasthenia gravis disease course as well as controls receiving conventional immunotherapy.

        Aim: to discover if the response to rituximab differs between patients with new-onset myasthenia gravis vs generalized myasthenia gravis, resistant to treatment, and how does rituximab compare with conventional immunotherapy in these patients?

        Findings: In this cohort study, rituximab appeared to perform better if initiated early after onset of generalized symptoms of myasthenia gravis.

        Conclusions: Early treatment with rituximab may be associated with improved treatment outcomes and may be considered earlier in the treatment for patients with new-onset generalized myasthenia gravis.

        Read the full article on JAMA Neurology


        Monday

        Research into Myositis‐specific autoantibodies

        Myositis‐specific autoantibodies and their clinical associations in idiopathic inflammatory myopathies

        Wong VTL, So H, Lam TTO, et al
        Acta Neurologica Scandinavica|August 11, 2020

        This multi‐centered studywas done on adult Chinese patients with idiopathic inflammatory myopathies (IIMs) in regional hospitals in Hong Kong from July 2016 to January 2018. 

        Aim: to discover the prevalence of Myositis‐specific autoantibodies (MSAs) and their associated complications in a cohort of patients with idiopathic inflammatory myopathies (IIMs).

        Findings: different antibodies were detected. 

        ConclusionsMSA testing means patients with IIMs can be divided into subgroups and easier prediction of potentially life‐threatening complications.

        Read the full article at Acta Neurologica Scandinavica.

        Myositis is an autoimmune disease where the body attacks healthy muscle fibers causing muscle inflammation, and eventually, loss of strength, functionality and mobility. It can be life-threatening when it affects the lungs and heart, but fortunately, there are medications and therapies to effectively treat the condition. ~ Hospital for Special Surgery

        Saturday

        Does autoimmune thyroid disease affect rheumatoid arthritis disease activity or response to methotrexate?

                          Does autoimmune thyroid disease affect rheumatoid arthritis disease activity or response to methotrexate?

        Abstract

        Objective: To investigate if autoimmune thyroid disease (AITD) impacts rheumatoid arthritis (RA) disease activity or response to methotrexate.
        Methods: A nationwide register-based cohort study of 9 004 patients with new-onset RA from the Swedish Rheumatology Quality Register year 2006-2016, with linkage to other nationwide registers to identify comorbidity with AITD defined as thyroxine prescription before RA diagnosis, excluding non-autoimmune causes. We compared RA disease activity using 28-joint Disease Activity Score (DAS28) and its components, and EULAR response, between patients with and without AITD, using logistic regression.
        Results: At diagnosis, patient reported outcome measures (PROMs; patient global, Health Assessment Questionnaire Disability Index and pain) but not objective disease activity measures (erythrocyte sedimentation rate and swollen joint count) were significantly higher among RA patients with AITD compared with those without. The level of DAS28 was 5.2 vs 5.1. By contrast, AITD had little influence on EULAR response to methotrexate at 3 months, nor at 6 months. When stratified by age, however, AITD was more common among EULAR non/moderate responders at 3 and 6 months in patients below 45 years resulting in ORs of non/moderate response of 1.44 and 2.75.

        Conclusion: At diagnosis, RA patients with concomitant AITD score worse on patient reported but not on objective RA disease activity measures, while DAS28 was only marginally elevated. The overall chance of achieving a EULAR good response at 3 or 6 months remains unaffected, although among a limited subgroup of younger patients, AITD may be a predictor for an inferior primary response.
        Affiliations 


        Thursday

        Major Depressive Disorder Raises Risk of Developing Autoimmune Skin Disease

        Major Depressive Disorder and Autoimmune Skin Disease

        Patients with major depressive disorder are at increased risk of developing an autoimmune skin disease, according to a 2020 study. 

        This large Taiwanese study aimed to investigate the association of major depressive disorder (MDD) with risk of getting a new autoimmune skin disorder (ASD).


        Subjects were recruited from the National Health Insurance Research Database in Taiwan: 222,522 patients with MDD and 890,088 matched controls to assess the risk of developing ASDs.
        Researchers found an increased risk of ASDs among the patients with MDD compared to the matched controls. 
        Analysis showed that MDD patients had a significantly increased risk of developing the following skin conditions all of which have an autoimmune basis:
        • psoriasis 
        • lichen planus  
        • alopecia areata  
        • morphea 
        • autoimmune bullous diseases 
        • hidradenitis suppurativa 
        • vitiligo 
        • lupus erythematosus
        • systemic sclerosis 
        • Sjogren's syndrome 
        • dermatomyositis

        Conclusions of the study:

        Patients with MDD had an increased risk of developing ASDs as compared to the controls. 
        Further studies are needed to better understand the underlying mechanisms.
        SOURCE:

        Sunday

        Scientists Re-wires Immune System to Hinder Attack on Healthy Cells in Autoimmune Diseases

        Attack on Healthy Cells in Autoimmune Diseases

        Researchers from the University of Birmingham have devised an approach to prevent the body's immune system from recognizing its own proteins, thus preventing an attack on healthy cells in autoimmune disorders.

        In their study, the authors analyzed the mechanism of T-cells, which controlled the body's immune function and discovered that they could be manipulated to prevent its attack on its own cells.


        For example, with multiple sclerosis, an autoimmune disease involving the brain and spinal cord, the new technique discovered would hinder the body from attacking the Myelin Basic Protection (MBP) by fooling the immune system to perceive the protein as a part of itself.
        According to Professor David Wraith, an author of the study from the Institute of Immunology and Immunotherapy, the team's findings have vital connotations for millions of patients suffering from autoimmune conditions that physicians currently find difficult to treat.
        Autoimmune diseases are currently treated using immunosuppressive drugs. The problem with this is that they suppress the whole immune system, making the patient prone to cancers and other infections. Trials using antigen therapy in patients with MS and Grave’s disease are ongoing, but results from short-term preliminary clinical trials showed both MS and Graves’ disease patients started to have improved health while the trials lasted. ProfessorDavid Wraith
        The findings of the study supported by the Medical Research Council were published in the journal Cell Reports on June 9, 2020.

        Tuesday

        Remission of Pituitary Autoimmunity Induced by Gluten-Free Diet

        Remission of Pituitary Autoimmunity Induced by  Diet

        Context
        An improvement of some autoimmune diseases associated with celiac disease (CD) has been observed after a gluten-free diet (GFD).

        Objective
        The aim of this study was to evaluate the effect of a gluten-free diet (GFD) on autoimmune pituitary impairment in patients with celiac disease and potential/subclinical lymphocytic hypophysitis (LYH).
        Lymphocytic hypophysitis is a condition in which the pituitary gland becomes infiltrated by lymphocytes, resulting in pituitary enlargement and impaired function. NORD
        Design
        Five-year longitudinal observational study.
        Patients
        Ninety-three newly diagnosed LYH patients (high titer of antipituitary antibodies [APA] and normal or subclinically impaired pituitary function) were enrolled from 2000 to 2013 and grouped as follows: group 1, consisting of 43 patients with LYH + CD, and group 2, consisting of 50 patients with isolated LYH only.
        Intervention
        A GFD was started in patients in group 1 after the diagnosis of CD.
        Main outcome measures
        APA titers and pituitary function were evaluated at the beginning of the study and then yearly for 5 years in both groups. Patients progressing to a clinically overt LYH were excluded from the follow-up.
        Results
        Complete remission of LYH (disappearance of APA and recovery of pituitary function in patients with previous subclinical hypopituitarism) occurred in 15 patients in group 1 after a GFD (34%) and spontaneously in only 1 patient in group 2 (2%) (P < .001). 
        Two patients in group 1 and 25 in group 2 progressed to a clinically overt hypopituitarism and dropped out from the study to receive an appropriate replacement therapy. 
        The presence of CD was the only independent predictor of pituitary function recovery (hazard ratio [HR] 0.059, 95% confidence interval [CI] 0.01–0.54, P = .012).
        Conclusion
        In patients with LYH and CD, a GFD may be able to induce remission of subclinical LYH, or prevent the progression to clinical stage of this disease.

        This research was done at the tertiary referral center for immunoendocrinology at the University of Campania “Luigi Vanvitelli” in Naples, Italy.

        SOURCE:

        Remission of Pituitary Autoimmunity Induced by Gluten-Free Diet in Patients With Celiac Disease

        Giuseppe Bellastella, Maria Ida Maiorino, Paolo Cirillo, Miriam Longo,Vlenia Pernice, Angela Costantino, Carmen Annunziata, Antonio Bellastella,Katherine Esposito, Annamaria De Bellis
        The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 7, July 2020, dgz228, https://doi.org/10.1210/clinem/dgz228
        Published: 20 May 2020
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