Connective Tissue
Disorders
Marfan Syndrome and
Ehlers-Danlos syndrome
• The connective tissues are the structural
portions of our body that essentially hold the
cells of the body together.
• These tissues form a framework or matrix for
the body.
• The connective tissues are composed of two
major structural molecules, collagen and
elastin.
• There are many different collagen proteins
that vary in amount in each tissue of the body.
• Elastin is another protein that has the
capability of stretching and returning to
original length like a spring.
– Elastin is the major component of ligaments
(tissues which attach bone to bone).
• Diseases of connective tissue that are strictly
inheritable include:
– Marfan syndrome
– Ehlers-Danlos syndrome
• The classic immune-related connective tissue
diseases include diseases such as rheumatoid
arthritis, which the cause is unknown, but
hypothesized to be due to bacteria or fungi
• Individuals with undifferentiated connective
tissue disease may never develop a fully
definable condition or they may eventually
develop a classic connective tissue disease.
Mixed connective tissue disease is an
"overlap" combination of connective
tissue diseases
• The course of the disease is chronic and
usually milder than other CTDs.
• Diagnosis of mixed connective tissue disease is
supported by detecting abnormal antibodies
in the blood.
• Treatment of mixed connective tissue disease
is directed at suppressing immune-related
inflammation of tissues.
Marfan
• Skeleton - People with Marfan syndrome are typically very tall, slender,
and loose-jointed.
– Arms, legs, fingers, and toes may be disproportionately long in relation to the
rest of the body.
– Long, narrow face
• Eyes - More than half of all people with Marfan syndrome experience
dislocation of one or both lenses of the eye.
– Many people with Marfan syndrome are also nearsighted, may develop
glaucoma or cataracts
• Heart and blood vessels (cardiovascular system) - Most people with
Marfan syndrome have problems associated with the heart and blood
vessels. Because of faulty connective tissue, the wall of the aorta (the
large artery that carries blood from the heart to the rest of the body) may
be weakened and stretch, a process called aortic dilatation.
• Nervous system - The brain and spinal cord are surrounded by fluid
contained by a membrane called the dura, which is composed of
connective tissue. As someone with Marfan syndrome gets older,
the dura often weakens and stretches, then begins to weigh on the
vertebrae in the lower spine and wear away the bone surrounding
the spinal cord.
• Skin - Many people with Marfan syndrome develop stretch marks
on their skin, even without any weight change. These stretch marks
can occur at any age and pose no health risk. However, people with
Marfan syndrome are also at increased risk for developing an
abdominal or inguinal hernia, in which a bulge develops that
contains part of the intestines.
• Lungs - Although connective tissue problems make the tiny air sacs
within the lungs less elastic, people with Marfan syndrome
generally do not experience noticeable problems with their lungs.
– Snoring or sleep apnea possible
People with Marfan's are typically tall,
with long limbs and long thin fingers.
Phelps stands 6'4", and has an armspan of 6'7",
which is greater than his height. That is a ratio
of 1.04, which is just shy of the clinical cutoff
of 1.05.
• He is also said to
have hypermobile joints
in his knees, shoulders
and ankles.
Ehlers-Danlos syndrome
• Ehlers-Danlos syndromes are a group of disorders
which share common features including easy
bruising, joint hypermobility (loose joints), skin
that stretches easily (skin hyperelasticity or
laxity), and weakness of tissues.
• The fragile skin and loose joints is often a result
of abnormal genes that produce abnormal
proteins that confer an inherited frailty of
collagen (the normal protein "glue" of our
tissues).
• In 2001, researchers discovered a new form of
Ehlers-Danlos syndrome that is caused by an
inherited abnormality in a protein other than
collagen that also normally plays a role in
binding together the cells of our tissues
(including the skin, tendons, muscle, and
blood vessels).
• Abnormalities in this protein, called tenascin,
also lead to a form of Ehlers-Danlos syndrome.
Researchers suspect that tenascin could play a
role in regulating the normal distribution of
collagen in the connective tissues of the body.
Arthritis
• Another form of connective tissue is fibrous
connective tissue which is found in tendons and
ligaments.
• Rheumatoid arthritis – Rheumatoid arthritis is a
systemic disorder in which immune cells attack
and inflame the membrane around joints. It also
can affect the heart, lungs, and eyes. Of the
estimated 2.1 million Americans with rheumatoid
arthritis, approximately 1.5 million (71 percent)
are women
• A joint is where two bones meet to allow
movement of body parts.
• Arthritis means joint inflammation.
• The joint inflammation of rheumatoid arthritis
causes swelling, pain, stiffness, and redness in
the joints.
• In some patients with rheumatoid arthritis,
chronic inflammation leads to the destruction
of the cartilage, bone, and ligaments, causing
deformity of the joints.
• The symptoms of rheumatoid arthritis come
and go, depending on the degree of tissue
inflammation.
• When body tissues are inflamed, the disease
is active. When tissue inflammation subsides,
the disease is inactive (in remission).
• Remissions can occur spontaneously or with
treatment and can last weeks, months, or
years
– The course of rheumatoid arthritis varies from
patient to patient, and periods of flares and
remissions are typical.
Stem Cells
• Stem cells have the remarkable potential to develop
into many different cell types in the body during early
life and growth. In addition, in many tissues they serve
as a sort of internal repair system, dividing essentially
without limit to replenish other cells as long as the
person or animal is still alive.
• When a stem cell divides, each new cell has the
potential either to remain a stem cell or become
another type of cell with a more specialized function,
such as a muscle cell, a red blood cell, or a brain cell.