What is the difference between marfan and ehlers danlos

Ask a Question. What Causes the Ehlers-Danlos Syndromes? Getting Diagnosed with Ehlers-Danlos Syndrome People with Ehlers-Danlos features need to see a doctor who knows about this and other connective tissue condition for an accurate diagnosis; often this will be a medical geneticist. How are Ehlers-Danlos Syndromes Managed?

Stronger Together Read the Full Story. Caring for Someone with Ehlers-Danlos Syndrome View fact sheets, ask a question, and even connect with other caregivers to get all the information and support you need to care for someone living with Ehlers-Danlos Syndrome. Visit the Resource Library. Ehlers-Danlos Syndrome and Pregnancy Decisions about family planning can be difficult and very emotional when one of the prospective parents has a genetic condition, such as Ehlers-Danlos Syndrome.

Information on pregnancy for people with Vascular Ehlers-Danlos. View Our science and treatment arm. Know the signs. Fight for victory. Donate Now. Caused by a mutation in the FBN1 gene.

FTAA are a group of disorders inherited in an autosomal dominant manner, with incomplete penetrance. Marfanoid habitus is absent. Characteristics of FTAA are: thoracic aortic aneurysms, patent ductis arteriosus, non-thoracic aneurysms, livedo reticularis, and iris flocculi. FTAA are associated also with increased risk of early coronary disease and strokes.

Characterized by Marfanoid habitus, developmental delay, thrombosis, myopia, and ectopia lentis. However, the lens is usually displaced downward, unlike in MFS, where it is displaced upward. Caused by a mutation in the CBS gene. Stickler syndrome is a heterogeneous group of heritable disorders; currently five types of Stickler syndrome have been identified.

It is characterized by vitreous abnormalities, high myopia, and hearing loss. Patients may experience retinal detachment that leads to blindness. They may have a bifid uvula, cleft palate, and Pierre Robin sequence. Early osteoarthritis development and spondyloepiphyseal dysplasia are also observed. WMS is also characterized by microspherophakia and other ocular abnormalities and joint stiffness.

Cutis laxa CL could be congenital or acquired. Acquired CL has been associated with drugs, neoplastic diseases, infections, hypersensitivity reactions and inflammatory diseases. Underlying pathogenetic mechanisms remain largely unknown. Also known as generalized elastolysis, cutis laxa is characterized by an absence of skin elasticity leading to loose and sagging skin. Unlike in EDS, when tension is applied to and then released from skin of patients with cutis laxa, it does not spring back into place due to the loss of elastin.

Patients with cutis laxa may have craniofacial abnormalities, emphysema, aortic dilatation, and pulmonic stenosis. Tenascin-X belongs to the Tenascin family proteins. It is an extracellular protein playing role not only in the matrix architecture and the cell adhesion but also in participating to signaling pathways.

Also known as atonic-sclerotic dystrophy, Ullrich congenital muscular dystrophy is characterized by multiple contractures of proximal joints and hypermobility of distal joints in the setting of generalized muscle weakness. Patients with OI may manifest joint hypermobility and easy bruisability.

Thorough history, including family history, and physical examination, are the most important steps in making a diagnosis of MFS. Genetic testing accompanied by genetic counseling pre- and post-testing is a key element in the diagnosis of MFS. Echocardiography should be performed in all patients with MFS at the time of diagnosis and 6 months subsequently to determine the aortic root and ascending aortic diameters and their rates of enlargement.

See below for more information on the management of MFS. Thorough history, including family history and physical examination are the most important steps in making a diagnosis of EDS. Genetic testing accompanied by genetic counseling pre- and post-testing is a key element in the diagnosis of certain EDS types. Ocular-scoliotic EDS type VI can be diagnosed by using high performance liquid chromatography to test urinary levels of total hydroxylysyl pyridinoline and lysyl pyridinoline.

An elevated ratio of lysyl pyridinoline to hydroxylysyl pyridinoline is diagnostic. Echocardiography looking for mitral valve prolapse and aortic root dilatation should be initially performed. Usually the findings are of minor clinical significance, therefore echo follow-up is not routinely required. The diagnosis of JHS is a clinical one. Thorough history and physical examination are essential to making the diagnosis see Tables IV and V above for diagnostic criteria.

Careful attention to optimizing mechanics is important. Patients should maintain an ideal, low body weight, and perform regular quadriceps and core strengthening exercises to protect their hypermobile joints.

Patients should undergo transesophageal echocardiography at diagnosis and again at 6 months to determine aortic root and ascending aortic diameters and their rates of dilatation. Once aortic root diameter reaches 45 mm, echocardiographic screening should occur more frequently, such as every 6 months.

Adults with several consecutive normal echocardiograms can space out their screening to every years. Mitral valve prolapse and left ventricular dysfunction can be also observed in MFS patients. It should be kept in mind that echocardiography measures the internal aortic diameter whereas CT and MR measure the external aortic diameter. Therefore, measurements taken by CT or MR tend to be 2 to 4 mm larger than those taken by echocardiography.

All patients with MFS and aortic involvement should receive beta blocker therapy with the goal of decreasing the rate of aortic dilatation. In patients who cannot tolerate beta blockade, angiotensin receptor blockers ARB should be substituted. Statins have been shown to have some favourable effects in Marfan-mice models, while administration of calcium-channel blockers should be avoided. Patients with a thoracic aortic aneurysm should be treated concurrently with beta blockers and angiotensin receptor blockers.

Prophylactic aortic root surgery either composite valve graft or valve-sparing aortic root replacement should be undertaken when aortic root diameter reaches about 50 mm. Valve-sparing operations appear to associate with lower rates of valve-related complications and better long-term prognosis.

Surgery for patients with smaller aortic root diameters should be considered when:. Patients should undergo regular orthopedic evaluations for defects such as scoliosis and pectus abnormalities.

Strenuous exercise as well as isometric exercises that involve the Valsalva maneuver should be avoided. Altered mental status could be a symptom of intracranial arterial rupture. Focusing on strengthening and stabilizing in a safe and practical way is ideal for those with connective tissue disorders, but speaking to a physical therapist or your doctor is the best way to figure out your course of action!

Marcia Cristiane Perretto. What is the difference? Recent Posts See All. Post not marked as liked. Post not marked as liked 1. The current classification proposes six subtypes based on clinical, biochemical and molecular characteristics. However, examples of unclassified variants and 'overlap phenotypes' are becoming more common. Mutations in genes encoding fibrillar collagens or collagen-modifying enzymes have been identified in most forms of EDS, including the classic and vascular subtypes collagen type V and III, respectively , and the rare arthrochalasis, kyphoscoliosis and dermatosparaxis variants type I collagen defects.