Current Rheumatology Reviews - Volume 8, Issue 1, 2012

Introduction: Marfan’s syndrome (MFS) is a dominant autosomal connective tissue disease that affects eyes, musculo-skeletal and cardiovascular systems. The initial evaluation must be meticulous. Because there are discrete clinical data only in aortic diseases similar to MFS. Objective: To conduct a retrospective evaluation of the diagnostic criteria applied upon admission of patients with MFS, the evolution of aortic deterioration, surgery, and survival over a period from 1983 to 2008. Material and Methods: Clinical, surgical and pathological records of patients diagnosed with Marfan’s syndrome were examined. Clinical findings, classification, established diagnoses, initial manifestations, duration of the disease, pathological findings, therapy, and survival were all re-evaluated. Results: A total of 166 patient files were studied. Seventy-eight had family histories of MFS. Seven did not fulfill the criteria for MFS, two might correspond to Shprintzen-Goldberg syndrome, three to Ehlers-Danlos syndrome, and two to Loeys-Dietz syndrome. Surgeries were performed in 63 adults. The survival rate of patients with aortic dilatation was 70% at 12 years. Survival diminished with aortic dissection. The mortality of the entire population was 14%. Conclusions: The evolution of MFS and other aortic diseases is variable. Cardiovascular damage is the factor that most commonly has an adverse effect on prognoses and must be under constant observation. Adding the Ghent criteria to clinical evaluation and attention to specific clinical findings can improve the classification of cases. Delays in diagnosis generally occur during the transition from adolescence to adulthood.

Understanding the disease pathogenesis and tissues structure changes have a positive impact on its management. In psoriatic patients suffering from arthritis, there is a variable spectrum of pathologic changes that include joint and tendon inflammation, new bone formation as well as severe osteolysis. This led to the proposition of the term “psoriatic disease” to encompass the involvement at different tissue and organ levels. The continuous technological advances in the field of musculoskeletal ultrasound allowed the detailed study of morpho-structural changes of the joints, entheses as well as skin and nails. Power Doppler Ultrasonography allowed the sensitive detection of blood flow even in small vessels of superficial tissues which facilitated the assessment of the inflammatory process activity and response to therapy. The ease of access, ability to scan repeatedly, as well as utility of ultrasound in the assessment of different musculoskeletal components offer major advantages over MRI and nuclear medicine in standard clinical practice. This article will review how US imaging has the potential to transform our understanding of psoriasis, and the potential role of musculoskeletal US, as a sensitive imaging modality, to assess the inflammatory process, disease activity as well as outcomes of therapy in patients with psoriatic arthritis.

In Mixed Connective Tissue Disease (MCTD), features of various connective tissue disorders such as systemic lupus erythematosus (SLE), progressive systemic sclerosis (PSSc), dermatomyositis/polymyositis (DM/PM), and occasionally Sjogren’s syndrome and rheumatoid arthritis (RA) can coexist and overlap. The picture is marked by the presence of high titer anti-U1 ribonucleoprotein (RNP) antibodies. Over the last 30 years since first described a lot of controversial studies have been published regarding the nature, the severity or the very existence of the condition. MCTD is not a benign condition easily responsive to treatment or without major complication as previously believed and every effort should be made from the start to identify the type and extent of organ involvement. Overall the mortality is not as high as in SLE but pulmonary hypertension and its cardiac complications are the major cause of death in MCTD and the patients should be monitored closely for its development and progression. This is a review of the clinical aspects and an update of the management of the main morbidities of MCTD.

Although systemic lupus erythematosus (SLE) has a peak incidence in young women, the disease often first presents during childhood. Moreover studies have suggested that patients with disease onset in childhood have a worse prognosis. Considering that renal involvement in SLE is the major determinant of long-term survival and morbidity, the focus of this article will be to review new and exciting approaches in the treatment of pediatric lupus nephritis by referencing the major studies over the last few years. Since membranous lupus nephritis is very different from other forms of lupus nephritis, the treatment of this specific form of renal involvement will not be discussed in great detail. Very few robust clinical trials have investigated the treatment of SLE and lupus nephritis in the pediatric population; hence most recommendations are based on adult clinical trials.

Spondyloarthritis (SpA) is a group of interrelated but phenotypically distinct chronic inflammatory arthritis. To describe the management of SpA in Asian countries, we performed systematic literature searches through MEDLINE / PubMed, EMBASE and Google Scholar using the following keywords: spondyloarthritis, management, treatment, classification criteria, physical exercise, non-steroidal anti-inflammatory drugs, disease-modifying anti-rheumatic drugs, thalidomide, glucocorticoids, tumor necrosis factor blockers, bisphosphonates. Studies conducted in Asian countries in the past 3 years were included. Low quality evidences, which had too small sample size or lacked controlled group, were excluded. Through the analysis of the included literature, it was concluded that management of SpA in Asia has changed in recent years. More frequent uses of magnetic resonance imaging (MRI) in diagnosing SpA and successful uses of tumor necrosis factor (TNF) blockers in active, refractory diseases have significantly improved the management of SpA in Asia. In addition, there are some characteristic clinical therapies in Asian countries. Thalidomide has been shown to be an effective and safe drug in the treatment of SpA patients. Traditional Chinese Medicine (TCM) is a promising clinical therapy in the treatment of SpA. With these advances, the management of SpA has considerably progressed. But defining better strategies and techniques for early diagnosis and developing new treatment to prevent or delay the process of new bone formation remain the major challenges facing the rheumatologists in Asian countries.

Systemic sclerosis (SSc), a chronic disease with widespread collagen deposition, has three pathogenetic facets: immune activation, microvasculopathy and fibroblast activation. Immune activation and microvasculopathy occur very early in the disease process, and inflammatory infiltrates in the skin are restricted in early-phase disease. There is good evidence that fibroblast activation with collagen production may be triggered by the immune system. In early-phase disease, we slowly move from general immunosuppression to therapeutically targeting specific molecules involved in immune activation, such as T cell-directed targets, B cell-directed targets, cytokine targets, and tyrosine kinases targets.

Neurologists are often called to evaluate central nervous system [CNS] manifestations in patients with suspected or definite systemic lupus erythematosus [SLE]. The manifestations are highly diverse and often have major prognostic consequences. The major difficulties are to determine if the given manifestation is primarily due to SLE activity in the brain, or a consequence of metabolic disturbances, infection, or corticosteroid use. The true incidence of CNS manifestations attributable to SLE is not entirely clear, but several studies show prevalence rate between 15-75%, depending on criteria adopted. For cognitive impairment, the prevalence ranges from 17-59%. Cognitive impairment may be attributed to emotional distress, corticosteroid use, active systemic disease or primary CNS dysfunction. These manifestations may occur even in the absence of other neuropsychiatric [NP] manifestations clearly attributable to SLE. The etiology of cognitive impairment may be related to autoimmune mechanisms, such as brain-specific autoantibodies. Despite several studies using computer tomography [CT] and magnetic resonance imaging [MRI], brain structural abnormalities could not be associated with cognitive findings in SLE patients. Functional neuroimaging methods may be more sensitive for detecting subclinical brain involvement related to cognitive dysfunction in SLE. Despite the fact that cognitive impairment may be residual in patients with previous CNS involvement, it also may be an early marker of CNS involvement in previous asymptomatic patients. This article will review clinical assessment, pathogenic mechanism, and the role of neuroimaging methods in the evaluating of SLE patients with cognitive impairment.

Psoriatic arthritis (PsA) is an inflammatory arthritis associated with psoriasis. It may affect the peripheral joints, the spine and the entheses. Over the past several decades it revealed itself as a systemic disease as severe as Rheumatoid Arthritis (RA) though it is most of the times seronegative for rheumatoid factor. PsA causes impressive inflammation, deformities and joint damage leading to impaired quality of life and function. It is associated with increased morbidity and mortality risk. We have better insight into the inflammatory and immunologic mechanism involved in this condition, the inflammatory cells, cytokines, adhesion molecules which helped finding the targets for treatment. Over a decade ago with the discovery of the anti-tumor necrosis factor alpha (TNFα) inhibitors we finally found the treatment to reduce the progression of joint damage. Starting this treatment early in the course of disease prevents the joint damage, improves the functional capacity and the survival of the patients with PsA. The biologic medications are effective in reducing dactylitis and enthesitis which are rarely improved by conventional treatments.