Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
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 Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. They are
categorized according to the form of genetic transmission into different types with many
features differing between patients in any given type. 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.
What are the types of Ehlers-Danlos syndromes?
Classical type (formerly types I & II)
Marked joint hypermobility, skin
hyperextensibility (laxity), and fragility are characteristic of the classic type of Ehlers-Danlos syndrome. The smooth, velvety skin is fragile and tears or bruises easily with minor trauma. Joint dislocations and
scoliosis are common. Joint instability can lead to sprains and strains. This classical type is inherited as an autosomal dominant genetic trait (directly passed on from one parent to child).
Hypermobility type (formerly type III)
Joint hypermobility is the major manifestation of this form of Ehlers-Danlos syndrome. Any joint can be affected, and dislocations are frequent.
This type is also inherited as an autosomal dominant genetic trait.
Vascular type (formerly type IV, the arterial form)
In this form of Ehlers-Danlos syndrome, spontaneous rupture of arteries and bowel is a serious manifestation that can lead to death. Clubfoot can be present at birth. Skin laxity is of varying degrees. Veins can be very visible through the skin. It is primarily inherited as an autosomal dominant (directly passed on from one parent to child) genetic trait, but recessive (not seen in family members or only in one generation of members of the same family,
meaning that an individual must inherit two copies of the mutation, one from
each parent) trait inheritance has been described.
Kyphoscoliosis type (formerly type VI)
Fragile globe of the eyes,
significant skin and joint laxity, and severe curvature of the spine
(scoliosis) are typical features. Its inheritance pattern is autosomal
recessive.
Arthrochalsia type (formerly type VIIB, arthrochalasis multiplex congenita)
Patients are short in
height and severely affected by joint laxity and dislocations. Skin
involvement is variable. Both utosomal dominant and recessive inheritance
is possible. A skin biopsy can be used to diagnose this disorder.
Dermatosparaxis type (formerly type VIIC)
Patients have severely fragile skin that is soft and doughy with sagging and folding. This rare form of Ehlers-Danlos syndrome can be diagnosed with a skin biopsy.
Tenascin-X deficient type
Joint hypermobility, hyperelastic skin, and fragile tissue are seen. Patients
with this type lack the multiple shrinking (atrophied) scars in the skin that
are often seen in classic Ehlers-Danlos. It is inherited as an autosomal
recessive genetic trait.
Other rare variant types have been reported in single families.
Abdominal aortic aneurysm is a ballooning or widening of the main artery (the aorta) as it courses down through the abdomen. The most common cause of aortic aneurysms is
"hardening of the arteries" called arteriosclerosis.
Emphysema is a progressive disease of the lungs. The primary cause of emphysema is smoking. Alpha 1-antitrypsin deficiency is a rare disorder that has a genetic predisposition to emphysema. Aging, IV drug use, immune deficiencies, and connect tissue illnesses are also risk factors for emphysema. Emphysema is a subtype of COPD (chronic obstructive pulmonary disease, COLD). Symptoms include shortness of breath and wheezing. Management of symptoms may be achieved with medications, quitting smoking, pulmonary rehabilitation, or surgery.
Connective tissue disease is when the body's connective tissues come under attack, possibly becoming injured by inflammation. Inherited connective tissue diseases include Marfan syndrome and Ehlers-Danlos syndrome. Systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymositis, and dermatomyositis are examples of connective tissue diseases that have no known cause.
The joint hypermobility syndrome is a condition in which the joints easily move beyond the normal range expected for a particular joint. The condition tends to run in families. Symptoms of hypermobility syndrome include joint pain. People with hypermobility syndrome are more susceptible to injury, including dislocations and sprains. Anti-inflammatory drugs can help with joint pain. Exercise can strengthen muscles, providing stability.
Aortic dissection is a small tear in the large blood vessel that leads from the heart and supplies blood to the body. There are two types of aortic dissection, type 1 and type 2. Signs and symptoms of aortic dissection include a tearing or ripping pain, nausea, sweating, weakness, shortness of breath, sweating, or fainting. Treatment depends on the type of aortic dissection, and the severity of the tear in the aorta.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
The aorta is the large blood vessel that leads from the heart and carries
blood to the rest of the body. The aorta originates at the aortic valve at the
outlet of the left ventricle of the heart. It ascends in the chest to an arch
where blood vessels branch off to supply blood flow to the arms and head. It
then begins to descend through the chest and into the abdomen, where it splits
into two iliac arteries that provide blood flow to the legs. Along its descent,
more small arteries branch out to supply blood to the stomach, intestine, colon,
kidneys, and the spinal cord.
The aorta has a thick wall, with three layers of muscle that allow the blood
vessel to withstand the high pressure that is generated when the heart pumps
blood to the body. The three layers are the tunica intima, tunica media, and the
tunic adventitia. The intima is the inside layer that is in contact with the
blood, the media is in the middl...
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