Ehlers Danlos and Marfan Syndrome

EDS and Marfan syndrome are both connective tissue disorders, and they both can occur simultaneously in one patient, but the chances are very rare.

Marfan syndrome’s only major difference affects the eyes, lens, and retina and affects other systems; in contrast, EDS never affects the eyes. Continue reading to learn more about Marfan syndrome and EDS.

Marfan syndrome

MFS is linked to issues with the cardiovascular system (e.g., Mitral valve prolapse, Aortic aneurysm, and dissection), the musculoskeletal system (e.g., joint hypermobility, i.e., tall stature with disproportionately long extremities), and the eyes (e.g., tall height with disproportionately long extremities, joint hypermobility) (e.g., subluxation of the lens of the eye). Microfibrils and Elastin in connective tissue throughout the body are affected by MFS, known as an autosomal dominant connective tissue condition.

Ehlers-Danlos syndrome (EDS)

Ehlers-Danlos syndrome (EDS) is a heterogeneous set of connective tissue illnesses defined by faulty collagen production and processing with varied inheritance (including hypermobility EDS and vascular EDS). Hyperextension skin, joint hypermobility, and tissue fragility are symptoms (including that of vasculature).

Clinical criteria are used to determine whether someone has MFS or EDS.

Additionally, genetic testing can be utilized to confirm or rule out the diagnosis of specific subtypes. Due to the lack of a causative treatment for MFS or EDS, management often focuses on clinical aspects, such as routine monitoring of consequences (e.g., aortic aneurysm imaging) and preventative care (e.g., Antihypertensive to prevent Aneurysm progression).

Symptoms and indicators of Marfan Syndrome:

The severity, starting time, and rate of progression of the signs and symptoms of Marfan syndrome vary greatly. Because connective tissue can be found all over the body, Marfan syndrome can affect a variety of organs and systems, causing problems in the heart, blood vessels, eyes, bones, and joints. Vision abnormalities caused by a dislocated lens (ectopia lentis) in one or both eyes and disorders in the major blood vessel that delivers blood from the heart to the rest of the body are the two main hallmarks of Marfan syndrome (the aorta). The aorta can weaken and stretch, resulting in a blood vessel wall bulge (an aneurysm).

The aortic valve may leak when the aorta stretches, resulting in an abrupt ripping of the layers in the aorta wall (aortic dissection). Aneurysms and dissections of the aorta can be fatal. Shortness of breath, weariness and an irregular heartbeat (skipped or other beats) can all be symptoms of leaks in these valves (palpitations).

Marfan syndrome patients are typically tall and slender, with arachnodactyly (elongated fingers and toes), loose joints, and an arms reach that surpasses their body height. Crowded teeth, long and narrow face, an abnormal curvature of the spine (scoliosis or kyphosis), stretch marks (striae) unrelated to weight gain or decrease, and either a projecting chest (pectus protruded) or a sunken chest (pectus excavatum) are also typical traits (pectus carinatum).

Some people acquire an abnormal accumulation of air in their chest cavity, which can cause a lung to collapse (spontaneous pneumothorax). In persons with Marfan syndrome, the dura surrounding the brain and spinal cord can become abnormally expanded (dural ectasia). Pain in the back, belly, legs, or head is a symptom of dural ectasia. Nearsightedness affects the majority of people with Marfan syndrome (myopia). Cataracts (clouding of the lens) can develop in mid-adulthood. Glaucoma (increased pressure within the eye) is more common in people with Marfan syndrome than in persons without the disorder.

Marfan syndrome symptoms can appear at any period between childhood and maturity. Marfan syndrome can be deadly early in life, depending on the onset and severity of signs and symptoms; however, many affected persons can live normal lives with adequate treatment.

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a condition that causes your body’s connective tissues to deteriorate. Tendons and ligaments, for example, are connective tissues that hold your body together. Your joints may become floppy, and your skin may become thin and easily bruised due to EDS. It can also cause blood vessels and organs to weaken. Although EDS has no cure, the symptoms can typically be treated and managed.

Different types of EDS

Although there are different varieties of Ehlers-Danlos syndrome, they all cause your joints to become loose and weak, as well as your skin to become extraordinarily elastic.

  • The most common type of EDS causes you to flex your joints more than they should. They’re more likely to be dislocated or sprained as a result of this. This type of sickness, known as hypermobility, affects up to 1 in 10,000 people.
  • Your skin is smooth, highly flexible, and fragile if you have the classic form of EDS. Scars on the skin around the knees and elbows are common in people with this type, and they bruise quickly. They’re also more prone to develop sprains, dislocations, or flat feet, as well as a heart valve or artery problems. This type of EDS affects around one out of every 20,000 to 40,000 persons.
  • The vascular variety of EDS affects about 1 in every 250,000 people. This type weakens blood vessels and increases the risk of organ tears.

Other forms of Ehlers-Danlos syndrome are extremely uncommon:

  • Around 60 cases of kyphoscoliosis have been discovered around the world. When a baby is born with weak muscles and bones, this is known as rickets. They frequently have exceptionally lengthy arms or fingers, as well as a bent spine that worsens with age. They are also more likely to suffer vision issues, such as shortsightedness or glaucoma, caused by too much pressure inside the eye.
  • Babies with the arthritic variants of EDS are born with their hip joints misaligned. Their joints are exceedingly lax, and their spines are bent in the same way as people with kyphoscoliosis. This type of instance has been identified in about 30 cases.
  • Dermatosparaxis is the rarest kind of EDS, with only a few dozen instances reported. People with this condition have unusually soft, doughy skin that bruises and scars readily. Hernias are also more common in them.

Comparative Analysis of Marfan Syndrome and EDS

Diagnosis:

Clinical diagnoses such as MFS and EDS are common. Genetic testing can confirm or rule out MFS and certain kinds of EDS.

Tests to determine specific manifestations include the following:

  • Echocardiography is a test that examines/checks the heart (cardiovascular manifestations)
  • Examination with a slit lamp (to rule out Lens abnormalities)
  • X-rays of the skeleton and magnetic resonance imaging (MRI) (dural ectasia in Marfan syndrome)

Treatment:

Both MFS and EDS are chronic connective tissue diseases, and there is no permanent treatment for them. Hence, to reduce the symptoms, many approaches or aid medical treatments are given, which are given below:

Treatment of specific symptoms and manifestations for both EDS and Marfan Syndrome using an interdisciplinary approach, including:

  • Use Beta-blockers. And if necessary, aortic root replacement surgery is used to treat aortic dilatation.
  • Bracing and, if necessary, surgery for scoliosis
  • Physical therapy.
  • Analgesics as a pain reliever.
  • Regular orthopaedic, ophthalmological, and cardiological examinations are also recommended.

Specific Treatment

Marfan syndrome

  • To reduce blood pressure, angiotensin receptor blockers (ARBs) can be used with beta-blockers.
  • Current research is looking at the effectiveness of ARBs (such as Losartan) in preventing aortic root dilatation.

 

Ehlers-Danlos syndrome (EDS):

  • To avoid significant bruising and internal bleeding, high-contact sports should be avoided, and surgical operations should be performed with prudence.

Final Thoughts:

Marfan syndrome (MFS) and Ehlers-Danlos syndrome (EDS) are multisystemic illnesses that largely affect the soft connective tissues. Recent developments in clinical and molecular characterization have helped to enhance clinical diagnosis and management for both illnesses.

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