They are connective tissue diseases involving many organs and systems, especially the skeletal system. It develops as a result of the immune system, which normally fights microbes, getting out of control and attacking its own cells. The disease picture is triggered by environmental factors in individuals with genetic predisposition. These diseases are classified according to the affected organ and system and are called by different names. The most well-known among them are: Rheumatoid Arthritis (RA), Juvenile Idiopathic Arthritis (JIA), Systemic Lupus Erythematosus (SLE), Anti-phospholipid Syndrome (AFS), Scleroderma, Reynaud’s Phenomenon, Sjogren’s syndrome, Dermatomyositis, Polymyositis, Vasculitis, Behçet’s Disease , Spondylarthritis (Ankylosing Spondylitis, Inflammatory Bowel Disease-Associated Arthritis, Psoriatic (Psoriasis-related) Arthritis, Sarcoidosis, Acute Joint Rheumatism and Familial Mediterranean Fever
Diagnosing Rheumatic Diseases
Physical examination
The most important clues that guide the diagnosis are obtained from the patient examination.For example, symmetrical involvement of the small joints and morning stiffness are typical in RA. As the disease progresses, erosion and deformity of the small joints develop. In SLE, the butterfly on the face One of the severe complications of the disease, “Lupus nephritis”, is the cause of the kidneys’ disease. occurs as a result of flow. In AFS, there is a tendency to clot and form a blockage (thrombosis) inside the vessels. In scleroderma, the skin hardens and its elasticity decreases, while bruising and painful ulcers develop on the fingertips in Raynaud’s phenomenon. Dry eyes and mouth are the most important complaints in Sjogren’s syndrome. Rashes in the form of redness observed on the upper eyelids in patients with dermatomyositis and on the neck and chest in patients with polymyositis are characteristic. Vasculitis is the inflammation of the vessels and gives different findings depending on the affected organ. For example, bloody sputum is seen when the lungs are affected, and bloody urine is seen when the kidneys are affected. Inflammation of the veins at the base of the eye causes blindness. Sometimes, the vessels feeding the nervous system are affected and symptoms such as numbness, tingling, burning and pain occur in the skin. In Behçet’s disease, aphthae occur in the mouth and genital area, and an inflammatory disease called uveitis develops in the eye. Coagulation and occlusion in the veins is an important complication of Behçet’s disease. In ankylosing spondylitis, inflammation occurs in the joints between the pelvis and the spine and in the structures that make up the spine. Severe hip, waist, back, neck and chest pains are present, and joint movements are limited. In inflammatory bowel diseases (Crohn’s disease, ulcerative colitis) there is an asymmetrical and wandering inflammation of the large (knee, elbow) and/or small (wrists, fingers) joints. Sometimes, findings resembling ankylosing spondylitis may also develop. Inflammation at the points where the tendons attach to the bones is another complication seen in this disease. Large and small joints are often affected in joint inflammation that develops in psoriatic arthritis (associated with psoriasis). Sometimes the spine and hip joints are affected by the disease. When the disease progresses, erosion and deformity occur in small joints. Sarcoidosis reveals a disease picture that mainly concerns the skin, respiratory system and joints. Acute rheumatoid arthritis is characterized by fever and arthritis in large joints after throat infection. The development of insufficiency of the heart valves and the participation of the heart muscle in the disease are the worst complications of this disease. In Familial Mediterranean Fever, there are complaints of recurrent fever, abdominal and chest pain. Sometimes asymmetric arthritis develops in large joints, but it does not cause erosion and deformity.
Laboratory
Some laboratory tests performed on blood in rheumatic diseases play an important role in diagnosing. For example, RF (rheumatoid factor) in RA, ANA (anti-nuclear antibody) and anti-dsDNA in SLE, AKA-IgG and AKA-IgM (cardiolipin antibodies) in AFS, anti-Scl 70 in scleroderma, anti-dsDNA in Sjogren’s syndrome SSA, anti-SSB, anti-jo in dermatomyositis and polymyositis, ANCA (anti-neutrophil cytoplasmic antibody) tests in vasculitis are some of these tests. There are also tests that help make a diagnosis, but whose presence is not meaningful on its own. HLA-B27 in ankylosing spondylitis and HLA-B5 in Behçet’s disease are tests within this scope. There are also some tests that are not specific to a particular rheumatic disease, but are important in evaluating the course of the disease. These are usually related to the activity of the disease. Sedimentation, CRP (c-reactive protein) and fibrinogen are a few of them.
Treatment
Treatment in rheumatic diseases is mainly done in 3 ways. These are medical treatment (drug therapy), physical therapy and surgical treatment. Medications used in medical treatment are effective by suppressing or correcting the immune response. Cortisone-containing drugs are one of the most important drug groups used in medical treatment. It is used as main drug or auxiliary drug in many treatment protocols. Other group drugs are traditional drugs such as hydroxychloroquine, sulfasalazine, gold salts, D-penicillamine, methotrexate, leflunomide, azathioprine and cyclophosphamide, and biological agents such as tumor necrosis factor (TNF)-α blockers, anakinra, abatacept and rituximab.
Since the curative effects of these drugs are on the immune system, clinical and laboratory changes that occur in the patient should be followed regularly in comprehensive laboratories. Because these drugs have important side effects such as increasing the frequency of infection (short term) or causing cancer (long term).
