Conditions Often Seen Alongside various EDS subtypes

Hypermobile Ehlers-Danlos Syndrome (hEDS)

• Dysautonomia — Problems with the autonomic nervous system (the part of the body that runs automatic functions like heart rate and blood pressure), including Orthostatic Intolerance (OI) and Postural Orthostatic Tachycardia Syndrome (POTS) — where the heart rate jumps quickly upon standing.

• Mast Cell Activation Syndrome (MCAS) — An immune system condition where cells called mast cells release chemicals inappropriately, causing allergy-like symptoms.

• Endometriosis

• Craniocervical Instability: CCI is instability where your head meets your neck. CCI can cause headaches, dizziness, and neurological symptoms that result from spinal cord compression. 

• Chiari malformation — A condition where brain tissue extends into the spinal canal.

• Tethered Cord Syndrome and Occult Tethered Cord Syndrome - abnormal spinal cord attachment

• Scoliosis

• Migraines

• Chronic fatigue — Ongoing, unexplained exhaustion that isn't relieved by rest.

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• Joint hypermobility — Joints that move beyond the typical range and may dislocate easily.

• Skin stretchiness and fragility — Skin that stretches more than usual and is prone to tearing or scarring.

• Easy bruising and scarring — The skin bruises or scars more easily than average.

• Chronic joint pain and dislocations — Ongoing pain and dislocations in the joints.

• Digestive issues — Reflux, constipation, and stomach or abdominal pain.

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• Mitral valve prolapse — A heart valve doesn't close as tightly as it should.

• Aortic root dilation or aneurysm — The main artery leaving the heart (the aorta) is wider than usual, or bulges.

• Kyphoscoliosis — An abnormal curve in the spine.

• Hearing loss — Reduced ability to hear.

• Periodontal disease — Gum and tooth-supporting tissue disease.

• Uterine or arterial rupture — In some rare subtypes, a serious risk of the uterus or an artery tearing.

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Marfan Syndrome

Marfan syndrome mainly affects the heart and blood vessels, the skeleton, and the eyes. It's caused by a change in the FBN1 gene. Below are the conditions most often linked to Marfan syndrome, grouped by the body system they affect. Not everyone with Marfan syndrome has all of these, and some people have additional issues not listed here.

Heart and Blood Vessels

• Aortic aneurysm and dissection — A bulge or tear in the main artery leaving the heart (the aorta), one of the most serious concerns in Marfan syndrome.

• Mitral valve prolapse and aortic regurgitation — A heart valve doesn't close tightly, letting blood leak backward.

• Aortic root dilatation — The base of the aorta widens over time.

Bones and Joints

• Scoliosis — A curve in the spine.

• Chest wall differences — The chest either caves in (pectus excavatum) or sticks out (pectus carinatum).

• Joint laxity and hypermobility — Joints that are looser and bend more than typical.

• Arachnodactyly — Unusually long, thin fingers.

• Flat feet.

Eyes

• Lens dislocation — The lens of the eye shifts out of its normal position.

• Nearsightedness, glaucoma (pressure buildup in the eye), retinal detachment, and cataracts.

Lungs

• Spontaneous pneumothorax — A lung collapses without an obvious cause.

• Obstructive sleep apnea — Breathing repeatedly stops and starts during sleep.

Skin

• Stretch marks, skin that appears translucent, and easy bruising.

 

Loeys-Dietz Syndrome (LDS)

LDS is a rarer connective tissue disorder that tends to cause more aggressive blood vessel problems than Marfan syndrome, along with some distinctive facial and skeletal features. It's caused by changes in genes involved in the TGF-beta signaling pathway (TGFBR1, TGFBR2, SMAD3, TGFB2, SMAD2, or TGFB3), or, in a rarer inherited form, the IPO8 gene. Below are conditions commonly linked to LDS; not everyone will experience all of them, and severity varies widely.

• Aneurysms and dissections — Weak spots or tears in arteries throughout the body, including the aorta — this is the most urgent concern in LDS and the reason for close monitoring.

• Facial and skull differences — Wide-set eyes, a cleft or split in the palate (roof of the mouth), and a palate with an unusually high arch.

• Skeletal differences — An abnormal spinal curve, loose joints, and unusually long limbs.

• Eye problems — Nearsightedness, cataracts, and glaucoma.

• Skin and blood vessel changes — Skin that bruises easily, feels thin, or looks translucent.

• Digestive issues — Hernias and bleeding in the digestive tract.

• Breathing issues — Asthma and sleep apnea.

• Neurological issues — Developmental delays, seizures, and a buildup of fluid in the brain (hydrocephalus).