Hypermobile Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur. Common symptoms include joint hypermobility, affecting both large (elbows, knees) and small (fingers, toes) joints; soft, smooth skin that may be slightly elastic (stretchy) and bruises easily; and chronic musculoskeletal (muscle and bone) pain. While hypermobile EDS is regarded as a genetic condition, the genetic cause is unknown as the gene(s) responsible have not been identified. Inheritance is autosomal dominant. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

• Joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints
• Frequent joint dislocations and subluxations (partial dislocation), often affecting the shoulder, kneecap, and/or temporomandibular joint (joint that connects the lower jaw to the skull)
• Soft, smooth skin that may be slightly elastic (stretchy) and bruises easily
• Chronic musculoskeletal (muscle and bone) pain
• Early-onset osteoarthritis
• Osteoporosis
• Gastrointestinal issues such as dysmotility, bloating, nausea, vomiting, heartburn, constipation, or hiatal hernia (which can also cause issues such as heartburn or reflux)
• Dysfunction of the autonomic nervous system
• Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body)
• Increased risk of pelvic prolapse, painful menstruation (dysmenorrhea), and painful intercourse (dyspareunia) in women
• Increased risk of pregnancy complications such as premature rupture of membranes or rapid labor and delivery (less than 4 hours)

Hypermobile Ehlers-Danlos syndrome (hEDS) is diagnosed based on the presence of characteristic signs and symptoms because there is no specific test available. The following three major criteria should be met:

Criteria 1: Generalized joint hypermobility (small and large joints) which is assessed by using the Beighton Score system and a questionnaire.

Criteria 2: Two or more of the following features must be present (A&B, A&C, B&C, or A&B&C):

Feature A—systemic manifestations of a more generalized connective tissue disorder (a total of 5 out of 12 must be present)

1. Unusually soft or velvety skin
2. Mild skin hyperextensibility
3. Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a history of significant gain or loss of body fat or weight
4. Bilateral piezogenic papules of the heel
5. Recurrent or multiple abdominal hernia(s) (e.g., umbilical, inguinal, crural)
6. Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS
7. Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known predisposing medical condition
8. Dental crowding and high or narrow palate
9. Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides
10. Arm span-to-height ≥1.05
11. Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria
12. Aortic root dilatation with Z-score > +2

Feature B—positive family history, with one or more first-degree relatives independently meeting the current diagnostic criteria for hEDS.

Feature C—musculoskeletal complications (must have at least 1 of 3 ):

1. Musculoskeletal pain in 2 or more limbs, recurring daily for at least 3 months
2. Chronic, widespread pain for ≥3 months
3. Recurrent joint dislocations or frank joint instability, in the absence of trauma (a or b)
   1. Three or more atraumatic dislocations in the same joint or two or more atraumatic dislocations in two different joints occurring at different times
   2. Medical confirmation of joint instability at two or more sites not related to trauma

Criteria 3: All these prerequisites must be met: absence of unusual skin fragility, exclusion of other heritable and acquired connective tissue disorders including autoimmune rheumatologic conditions, and exclusion of alternative diagnoses that may also include joint hypermobility due to poor muscle tone (hypotonia) and/or connective tissue laxity.

Other problems (which are not necessarily present) include recurrent joint dislocations, chronic joint/limb pain, and positive family history.

Making the diagnosis can sometimes be complicated by the fact that joint hypermobility is more common in females and young children. Also, joint hypermobility may lessen with age, especially with the development of arthritis or after surgery. In these cases, it would be important to note a past history of joint laxity.

There is a range of conditions which can accompany hEDS, although there is not enough data for them to become part of the diagnostic criteria. While they’re associated with hEDS, they’re not proven to be the result of hEDS and they’re not specific enough to be criteria for diagnosis. Some of these include sleep disturbance, fatigue, postural orthostatic tachycardia, functional gastrointestinal disorders, dysautonomia, anxiety, and depression. These conditions are sometimes more debilitating than the joint symptoms as they often impair daily life, and should be considered and treated.

The treatment of hypermobile Ehlers-Danlos syndrome depends on the signs and symptoms present in each person. For example, physical therapy is often recommended to strengthen muscles and improve joint stability. Assistive devices such as braces, wheelchairs, or scooters may be necessary depending on the severity of joint instability. Pain medications may be prescribed to manage severe musculoskeletal (muscle and bone) pain. Affected people may be monitored for the development of osteopenia (low bone density) and aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body).

Please speak to your healthcare provider if you have any questions about your personal medical management plan.