MORE THAN HYPERMOBILE: EHLERS-DANLOS AND ITS RARER FORMS

MAY 16, 2018

While every zebra has a unique set of stripes—and every person living with Ehlers-Danlos has a unique set of symptoms—joint hypermobility, a characteristic most often associated with hypermobile Ehlers-Danlos syndrome (hEDS), the most common type of EDS, is part of almost every diagnosis.

Yet, hEDS is only one of the 13 different types of Ehlers-Danlos syndromes currently recognized by the International Consortium on Ehlers-Danlos and Related Disorders, and a 14th has just been discovered.

Indeed, each type of Ehlers-Danlos is a distinct disorder with its own unique symptoms and challenges—and many do not present with joint hypermobility as a defining symptom. And, unlike hEDS, every other form of EDS results from an identified genetic variant.


Zebras of a Different Stripe: The 13 Rarer Types Ehlers-Danlos

ARTHROCHALASIA EDS displays severe generalized joint hypermobility, congenital bilateral hip dislocation, and recurrent subluxations and dislocations of both small and large joints.

BRITTLE CORNEA SYNDROME displays thin, fragile cornea, with an increased risk for spontaneous corneal rupture

CARDIAC-VALVULAR EDS involves severe cardiac-valvular disease that requires valve replacement surgery in conjunction with variable skin hyperextensibility, atrophic scarring, and joint hypermobility.

CLASSICAL EDS affects skin, wound healing, and joints. Joints can stretch beyond normal, causing pain. Skin that can be stretched further than it should is easily torn, and doesn’t repair itself well, causing disfiguring scarring.

CLASSIC-LIKE EDS is distinguished by generalized joint hypermobility; hyperextensible, soft and/or velvety skin without the typical atrophic scarring seen in classical EDS; and easy bruising.

DERMATOSPARAXIS EDS causes extreme skin fragility with redundant, almost lax skin, and severe susceptibility of bruising.

KYPHOSCOLIOTIC EDS results in abnormal spine curvature at birth, reduced muscle tone, muscle atrophy, and joint hypermobility.

Read Larry’s kEDS story: Letter From One Tough Zebra: Navigating the Countless Curves of Kyphoscoliotic Ehlers-Danlos Syndrome with Drive and Determination

MUSCULOCONTRACTURAL EDS results in distinctive head and facial features; multiple deformed and rigid joints at birth; and characteristic skin features.

MYOPATHIC EDS involves muscle weakness that is present in infancy or childhood and is associated with proximal large joint rigidity and distal joint hypermobility.

Read Rochelle and Whitney’s mEDS story: Rarest Of The Rare: Two Women Among The Eleven People Reported Worldwide With Rare Genetic Disorder, Myopathic Ehlers-Danlos Syndrome, Seek Awareness For ‘Invisible Illness’

PERIDONTAL EDS results in early-onset inflammation of the tissue around teeth, with extensive gum destruction and loss of teeth starting in childhood or adolescence.

SPONDYLODYSPLASTIC EDS results in short stature, joint hypermobility, and intellectual disability.

VASCULAR EDS is the most serious type due to the possibility of a shortened lifespan. Minor trauma can lead to extensive bruising and skin tears. Arterial rupture is the most common cause of sudden death.

Read Matt’s vEDS story: When A Sneeze Can Kill: Living Life With Deadly Rare Genetic Disorder, Vascular Ehlers-Danlos Syndrome

A 14th type of EDS has recently been discovered but has not yet been officially classified and named. This variant results in a set of symptoms that relate to those found in other EDS: joint laxity, redundant and hyperextensible skin, poor wound healing with abnormal scarring, osteoporosis, and other features.


A Unique Challenge—A Special Opportunity

In recognition of the unique challenges of those living with the more rare types, The Ehlers-Danlos Society is is presenting an Ehlers-Danlos Rarer Types Day to be held on Sunday, August 5, in Baltimore, Maryland, following the 2018 Ehlers-Danlos Society Global Learning Conference.

This one-day event will feature presentations by some of the world’s leading EDS experts, as well as the chance to network with others living with rarer forms of Ehlers-Danlos syndromes.


Fragile, But Unbreakable

Yes, every zebra wears a different set of stripes—and each case of Ehlers-Danlos is unique. But the more we tell our stories, the more opportunity we have to share that which connects us: fragile connective tissues—and unbreakable individual spirits.

Do you have a rarer types story to tell? Share it with us!

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