Clinical rheumatology
-
Clinical rheumatology · Sep 2018
Vasculitis associated with immune checkpoint inhibitors-a systematic review.
Recent experimental and genetic studies have implicated the role of programmed cell death protein 1 (PD-1), programmed cell death protein-ligand 1 (PDL-1), and cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) in the pathogenesis of medium and large vessel vasculitis. This study sought to evaluate the occurrence and nature of vasculitis associated with cancer treatment using immune checkpoint inhibition (anti-PD-1, anti-PDL-1, and anti-CTLA4). A systematic review of the medical literature was conducted by searching all available clinical data up to February 2018 in several databases and search engines including Cochrane Library, Embase, Google Scholar, Medline, Scopus, Web of Science, and Clinicaltrials.gov. ⋯ No death related to vasculitis was reported. Vasculitis, namely large vessel and vasculitis of the nervous system, is associated with immune checkpoint inhibition. Results of this study add to the growing evidence regarding the relationship between immune checkpoints and vasculitis and suggest that the pathway may be a therapeutic target.
-
Clinical rheumatology · Dec 2017
Review Case ReportsUse of eculizumab in a systemic lupus erythemathosus patient presenting thrombotic microangiopathy and heterozygous deletion in CFHR1-CFHR3. A case report and systematic review.
The association of thrombotic microangiopathy (TMA) with systemic lupus erythematosus (SLE) has been described in 0.5 to 10% of cases, and patients present worse outcome. TMA is described as the association of microangiopathic hemolytic anemia, thrombocytopenia, and an organ injury, frequently the kidney. This study describes a successful case of use of eculizumab in a patient with SLE and TMA refractory to standard therapy, and provides a literature review. ⋯ Hematological response was evident in 100% and kidney recovery in 85% of patients. The terminal complement blockade with eculizumab is an optional treatment for patients with SLE and/or APS presenting TMA and refractory to current immunosuppression therapies. Genetic testing may help recognize patients with aHUS and SLE/APS and therefore help to determine length of treatment with eculizumab.
-
Clinical rheumatology · Dec 2017
Review Case ReportsUse of eculizumab in a systemic lupus erythemathosus patient presenting thrombotic microangiopathy and heterozygous deletion in CFHR1-CFHR3. A case report and systematic review.
The association of thrombotic microangiopathy (TMA) with systemic lupus erythematosus (SLE) has been described in 0.5 to 10% of cases, and patients present worse outcome. TMA is described as the association of microangiopathic hemolytic anemia, thrombocytopenia, and an organ injury, frequently the kidney. This study describes a successful case of use of eculizumab in a patient with SLE and TMA refractory to standard therapy, and provides a literature review. ⋯ Hematological response was evident in 100% and kidney recovery in 85% of patients. The terminal complement blockade with eculizumab is an optional treatment for patients with SLE and/or APS presenting TMA and refractory to current immunosuppression therapies. Genetic testing may help recognize patients with aHUS and SLE/APS and therefore help to determine length of treatment with eculizumab.
-
Clinical rheumatology · Sep 2017
ReviewGenomics and epigenomics in rheumatic diseases: what do they provide in terms of diagnosis and disease management?
Most rheumatic diseases are complex or multifactorial entities with pathogeneses that interact with both multiple genetic factors and a high number of diverse environmental factors. Knowledge of the human genome sequence and its diversity among populations has provided a crucial step forward in our understanding of genetic diseases, identifying many genetic loci or genes associated with diverse phenotypes. In general, susceptibility to autoimmunity is associated with multiple risk factors, but the mechanism of the environmental component influence is poorly understood. ⋯ In this context, the development of "-omics" techniques is an opportunity to progress in our knowledge of complex diseases, impacting the discovery of new potential biomarkers suitable for their introduction into clinical practice. In this review, we focus on the recent advances in the fields of genomics and epigenomics in rheumatic diseases and their potential to be useful for the diagnosis, follow-up, and treatment of these diseases. The ultimate aim of genomic studies in any human disease is to understand its pathogenesis, thereby enabling the prediction of the evolution of the disease to establish new treatments and address the development of personalized therapies.
-
Clinical rheumatology · Jul 2017
Review"Hiker's feet": a novel cutaneous finding in the inflammatory myopathies.
Mechanic's hands is a well-characterized manifestation of select idiopathic inflammatory myopathy (IIM) syndromes. Less well characterized is the hyperkeratosis of the toes and plantar surface of the feet that can also accompany these disorders. We aim to describe common pedal signs in the context of IIM, and suggest that it may be another key feature in the presentation of these syndromes. ⋯ Although the term "mechanic's feet" has been used to describe this clinical finding in patients in our myositis cohort, we propose the term "hiker's feet," given that the presentation resembles a callousing pattern more typical of avid hikers or long-distance walkers. Prevalence data are not yet known but should be considered for further study. If the presenting signs of IIM are expanded to include hiker's feet, it could aid in not only diagnosis and management but also provide insights into the pathophysiology of these diseases.