CONNECTIVE TISSUE

DISORDER

JOSEPH WALTER
34 GROUP,5TH COURSE

VITEBSK STATE MEDICAL UNIVERSITY

2010 -2011
 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.
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.
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.
 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.
Marfan’s syndrome

Lens dislocation in Marfan's syndrome;

the lens is kidney-shaped
and is resting against the ciliary body
 Diagnosis
Diagnostic criteria of Marfan syndrome were agreed internationally in
1996. A diagnosis of Marfan syndrome is based on family history and a
combination of major and minor indicators of the disorder, rare in the
general 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
 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

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.
Osteogenesis imperfecta
 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
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.
Causes

Stickler syndrome is inherited

in an autosomal dominant pattern
 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 

Scleroderma

Sjögren's syndrome

Mixed connective tissue diseas

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.
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
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
 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.
Scleroderma

 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
 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.
Classification

 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
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
 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.
 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.
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, and
sclerodactyly (thickening of the skin of the pads of the fingers)
Thank you for your attention