Connective tissue disease refers to a group of disorders involving the protein-rich tissue that supports organs and other parts of the body. Examples of connective tissue are fat, bone, and cartilage. These disorders often involve the joints, muscles, and skin, but they can also involve other organs and organ systems, including the eyes, heart, lungs, kidneys, gastrointestinal tract, and blood vessels. There are more than 200 disorders that affect the connective tissue. Causes and specific symptoms vary by the different types.It is characterized by arthralgia, arthritis, myositis, raynauds phenomenon and skin lesions. There is multi system involvement with fibrinoid degeneration of connective tissue.
Most Connective Tissue Disorders are common in women and these include systemic lupus erythematosis and Sjogren’s syndrome while in men vasculatides are more common. Characteristic features include malaise, fatigue, fever, weight loss and skin involvement.The doctor can sometimes detect a particular connective tissue disease simply by the physical examination. Frequently, blood testing, X-ray examination, and other tests can help in making a diagnosis of connective tissue disease.
The autoimmune connective tissue diseases include systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymyositis, and dermatomyositis. These are considered classic connective tissue diseases. Each of these diseases has a “classic” presentation with typical findings that doctors can recognize during an examination. Each also has various typical blood test abnormalities and a variety of abnormal antibodies that are commonly found in blood. However, each of these diseases can evolve slowly or rapidly from very subtle abnormalities before demonstrating the classic features that help in the diagnosis.
Raynaud’s phenomena is often an early complication. Non-specific features include recurrent mouth ulcers, loss of hair and pleuritic pain. These diseases are more common in patients with other autoimmune disorders or in relatives of patients with autoimmune disease.
Broadly connective tissue disorders include rheumatoid arthritis, systemic lupus erythematosis, Sjogren’s syndrome, systemic sclerosis. Polyarteritis nodosa and dermatomyositis.
Most of these patients have a positive antinuclear antibody test along with raised erythrocyte sedimentation rate, plasma viscosity and C-reactive proteins. Besides the classical forms of connective tissue disorders, an entity called ‘Mixed Connective Tissue Disorders’ (MCTD) is now being recognized.
Here there is an overlap of systemic lupus. Erythematosis (SLE) Scleroderma and polymyositis associated with antibodies to nuclear ribonucleo protein (RNP).
Characteristic features described are Raynaud’s phenomenon, arthralgia and arthritis, puffy hands, abnormal esophageal motility, myositis lymphadenopathy and absence of renal or cerebral disease and vasculitis.
There is marked prevalence of the disease in females. The cause of Connective Tissue Disorders is unknown but it is common in patients with a particular genetic background. Polyartbritis is prominent and more severe as is Raynaud’s phenomenon. Erythematous eruptions and myalgias are common. Pericarditis is seen in about one third of patients.
Besides presence of anti UIRNP antibody, Rheumatoid factor is present in about 50% of patients.
Treatment of mixed connective tissue disorders is symptomatic. Response to steroids is good and this is more so when there is flare up of clinical features.
Response to steroids in patients with Raynauds phenomena, pulmonary hypertension, renovascular hypertension, nephritis and myocarditis is generally poor.
Types of Connective tissue disorders are:
1. Rheumatoid arthritis
2. Systemic lupns erythematosis (SLE)
3. Polyarteritis nodosa
4. Sjogren’s syndrome
5. Systemic sclerosis
When more than one autoimmune connective tissue disease is present in the same person their condition is often referred to as an “overlap” syndrome of connective tissue disease. One particular overlap syndrome is characterized by features of scleroderma, lupus, and polymyositis and is referred to as mixed connective tissue disease (MCTD), also known as Sharp’s syndrome.