Connective Tissue Disorder3

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2010 -2011

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A connective tissue disease is any disease that has the connective tissues of the body as a target of pathology. Connective tissue is any type of biological tissue with an extensive extracellular matrix.

two major structural protein molecules of connective tissue : collagen and elastin.

There are many different types of collagen protein in each of the body's tissues. Elastin has the capability of stretching and returning to its original length—like a spring or rubber band.

Elastin is the major component of ligaments (tissues that attach bone to bone) and skin. In patients with connective tissue disease, it is common for collagen and elastin to become injured by inflammation.

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Heritable Connective Tissus Disorder

Marfan syndrome – a genetic disease causing abnormal fibrillin.

Ehlers-Danlos syndrome – causes progressive deterioration of collagens, with different EDS types affecting different sites in the body, such as joints, heart valves, organ walls, arterial walls

Osteogenesis imperfecta (brittle bone disease) – caused by insufficient production of good quality collagen to produce healthy, strong bones.

Stickler syndrome – affects collagen, and may result in a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.

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Marfan syndrome

It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1.[1][2]People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's. This syndrome can run from mild to severe.

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People with Marfan's are typically tall, with long limbs and long thin fingers.

The most serious complications are the defects of the heart valves and aorta. It may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palate.

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Lens dislocation in Marfan's syndrome; the lens is kidney-shaped and is resting against the ciliary body

Marfan’s syndrome

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DiagnosisDiagnostic criteria of Marfan syndrome were agreed internationally in1996. A diagnosis of Marfan syndrome is based on family history and acombination of major and minor indicators of the disorder, rare in thegeneral population, that occur in one individual Aortic aneurysm or dilation Arachnodactyly GERD Bicuspid aortic valve Cysts Cystic medial necrosis Deviated septum[18] Dural ectasia Early cataracts Early glaucoma[19] Early osteoarthritis[20] Ectopia lentis Emphysema

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Eye iris coloboma[22] Flat feet Above-average height Heart palpitations[23] Hernias Hypermobility of the joints Kyphosis (hunched back) Leaky heart valve Malocclusion Micrognathia (small lower jaw)[22] Mitral valve prolapse Myopia (near sightedness)

Treatment: There is no cure for Marfan syndrome

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Ehlers–Danlos syndrome

caused by a defect in the synthesis of collagen .

 The collagen in connective tissue helps tissues to resist deformation.

pathology results in increased elasticity.

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Osteogenesis imperfecta

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As a genetic disorder, OI is an autosomal dominant defect. Most people with OI receive it from a parent but it can be an individual (de novo or "sporadic") mutation

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Stickler syndrome

Stickler syndrome is characterized by distinctive facial abnormalities, eye problems, hearing loss, and joint problems.

Treatment:Many professionals that are likely to be involved in the treatment of those with Stickler's Syndrome, include craniofacial surgeons, ear/nose/and throat specialists, ophthalmologists,audiologists and rheumatologists.

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Stickler syndrome is inherited in an autosomal dominant pattern

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Autoimmune Connective Tissue Disorders

They are characterized as a group by the presence of spontaneous overactivity of the immune system that results in the production of extra antibodies into the circulation.

The classic collagen vascular diseases include:

Systemic lupus erythematosus (SLE)

Rheumatoid arthritis 


Sjögren's syndrome

Mixed connective tissue diseas

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Systemic lupus erythematosus

chronic systemic autoimmune disease (or autoimmune connective tissue disease) that can affect any part of the body. As occurs in other autoimmune diseases, the immune system attacks the body's cells and tissue, resulting in inflammation and tissue damage.

SLE most often harms the heart, joints, skin, lungs, blood vessels, liver, kidneys, and nervous system. The course of the disease is unpredictable, with periods of illness (called flares) alternating with remissions. 

SLE is treatable through addressing its symptoms, mainly with cyclophosphamide, corticosteroids and immunosuppressants; there is currently no cure. SLE can be fatal, although with recent medical advances.

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Signs and symptoms

SLE is one of several diseases known as "the great imitators" because it often mimics or is mistaken for other illnesses.

SLE is a classical item in differential diagnosis, because SLE symptoms vary widely and come and go unpredictably. Diagnosis can thus be elusive, with some people suffering unexplained symptoms of untreated SLE for years.

Common initial and chronic complaints include fever, malaise, joint pains, myalgias, fatigue, and temporary loss of cognitive abilities. Because they are so often seen with other diseases, these signs and symptoms are not part of the diagnostic criteria for SLE. When occurring in conjunction with other signs and symptoms (see below), however, they are considered suggestive

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Rheumatoid arthritis

chronic, systemic inflammatory disorder that may affect many tissues and organs, but principally attackssynovial joints. The process produces an inflammatory response of the synovium (synovitis) secondary to hyperplasia of synovial cells, excess synovial fluid, and the development of pannus in the synovium. The pathology of the disease process often leads to the destruction of articular cartilage and ankylosis of the joints

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Rheumatoid arthritis can also produce diffuse inflammation in the lungs, pericardium, pleura, and sclera, and also nodular lesions, most common in subcutaneous tissue under the skin.

Various treatments are available. Non-pharmacological treatment includes physical therapy, orthoses, occupational therapy and nutritional therapy but do not stop progression of joint destruction. Analgesia (painkillers) and anti-inflammatory drugs, including steroids, are used to suppress the symptoms, while disease-modifying antirheumatic drugs (DMARDs) are required to inhibit or halt the underlying immune process and prevent long-term damage. In recent times, the newer group of biologics has increased treatment options.

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chronic systemic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. There are two major forms:

Limited systemic sclerosis/scleroderma Diffuse systemic sclerosis/scleroderma

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Limited systemic sclerosis/scleroderma- cutaneous manifestations mainly affect the hands, arms and face Previously called CREST syndrome in reference to the following complications: Calcinosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactyly, andTelangiectasias.

Diffuse systemic sclerosis/scleroderma is rapidly progressing and affects a large area of the skin and one or more internal organs, frequently the kidneys, esophagus, heart and lungs.

 There are no treatments for scleroderma itself, but individual organ system complications are treated.

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Localized scleroderma Localized morphea Morphea-lichen sclerosus et atrophicus overlap Generalized morphea Atrophoderma of Pasini and Pierini Pansclerotic morphea Morphea profunda Linear scleroderma

Systemic scleroderma CREST syndrome Progressive systemic sclerosis

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Sjögren's syndrome

 systemic autoimmune disease in which immune cells attack and destroy the exocrine glands that produce tears and saliva.

An autoantigen is alpha-Fodrin

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The hallmark symptoms of the disorder are dry mouth and dry eyes (part of what are known as sicca symptoms). In addition, Sjögren's syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body, including the kidneys, blood vessels, lungs, liver, pancreas, peripheral nervous system (distal axonal sensorimotor neuropathy) andbrain.

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There is neither a known cure for Sjögren's syndrome nor a specific treatment to permanently restore gland secretion. Instead, treatment is generally symptomatic and supportive. Moisture replacement therapies such as artificial tears may ease the symptoms of dry eyes (some patients with more severe problems use goggles to increase local humidity or havepunctal plugs inserted to help retain tears on the ocular surface for a longer time).

Additionally, cyclosporin (Restasis) is available by prescription to help treat chronic dry eye by suppressing the inflammation that disrupts tear secretion. Prescription drugs are also available that help to stimulate salivary flow, such as cevimeline (Evoxac) and pilocarpine.Nonsteroidal anti-inflammatory drugs may be used to treat musculoskeletal symptoms. For individuals with severe complications, corticosteroids or immunosuppressive drugs may be prescribed.

Also, disease-modifying antirheumatic drugs (DMARDs) such as methotrexate may be helpful. Hydroxychloroquine (Plaquenil) is another option and is generally considered safer than methotrexate.

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Mixed connective tissue disease

autoimmune disease, in which the body's defense system attacks itself .

MCTD combines features of scleroderma, myositis, systemic lupus erythematosus, and rheumatoid arthritis[6] (with some sources addingpolymyositis, dermatomyositis, and inclusion body myositis)[7] and is thus considered an overlap syndrome.

MCTD commonly causes:joint pain/swelling,malaise,Raynaud phenomenon,Sjögren's syndrome,muscle inflammation, andsclerodactyly (thickening of the skin of the pads of the fingers)

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Thank you for your attention