EDS and hEDS

EDS

THE BEIGHTON SCORING SYSTEM

The Beighton Scoring System measures joint hypermobility on a 9-point scale. The joints assessed are: Use a goniometer if needed. 

The 5-part questionnaire for hypermobility

Answering yes to 2 or more of these questions suggests hypermobility (sense 85%, spec 90%).

The 5-part questionnaire was designed as a quick check to see if someone has or may have had hypermobility (Hakim and Grahame, 2003). It has been used in clinics and in research and has been translated for use in several languages and tested in several countries (Glans et al., 2020).  It was tested and designed as an alternative to the Beighton score.  If you answer ‘yes’ to two or more of the questions, it strongly predicts a Beighton score of 4 or more, 4 being the cut-off point in criteria at the time the questionnaire was published.

Example:

Ehler-Danlos Screening:

1. Can you now (or could you ever) placing her hands flat on the floor without bending her knees? Yes

2. Can you now (or could you ever bend your thumb to touch your forearm? Yes

3. As a could you do the splits? Yes

4. As a child or teenager did your shoulder or kneecap dislocate on more than one occasion? Yes

5. Do you consider your cell double-jointed? Yes.


Beighton score: 9/9.  

1. With the palm of the hand and forearm resting on a flat surface with the elbow flexed at 90°, the metacarpal-phalangeal joint of the fifth finger can be hyperextended more than 90° with respect to the dorsum of the hand, bilaterally:  2 points.

2. With arms outstretched forward but hand pronated, the thumb can be passively moved to touch the ipsilateral forearm, bilaterally:  2 points.

3. With the arms outstretched to the side and hand supine, the elbow extends more than 10°, bilaterally: 2 points.

4. While standing, with knees locked in genu recurvatum, the knee extends more than 10°, bilaterally:  2 points.

5. With knees locked straight and feet together, she can bend forward to place the total palm of both hands flat on the floor just in front of her feet: 1 point.

Hypermobility spectrum Disorder

Hypermobility spectrum disorders (HSD) are connective tissue disorders that cause joint hypermobility, instability, injury, and pain. Other problems such as fatigue, headaches, GI problems, and autonomic dysfunction are often seen as part of HSD. 

What is hypermobility?

Most babies and children are naturally very flexible.  Many people become less flexible as they grow, but hypermobility continues into adulthood for some, up to about 20% of people.  Being “flexible,” “bendy,” or “double-jointed” is not usually a problem, and for some, like dancers or gymnasts, it is an advantage.  Hypermobility that does not cause pain or other symptoms is referred to as “asymptomatic joint hypermobility” and does not need to be treated.

The problem occurs when joints are not just hypermobile but are also unstable.  Joint instability occurs when the bones of a joint aren’t held in place securely.  This can lead to joint subluxations, dislocations, sprains, and other injuries.  Joint instability can cause both acute and chronic pain and interfere with daily life.

Joint hypermobility and/or instability may be a person’s only problem.  It can also occur as part of a known syndrome, such as types of Ehlers-Danlos syndromes (EDS), Marfan syndrome, or Down syndrome.  The hypermobility spectrum disorders occur when a person has symptomatic joint hypermobility that cannot be explained by other conditions.  A person with HSD may have joint instability as their only concern or may have other medical issues as well.

What is a disorder?

What is a spectrum disorder?

What are the types of HSD? 


Prevalence

the International Consortium on the Ehlers–Danlos Syndromes proposes 6 for pre-pubertal children and adolescents, 5 for pubertal men and women up to the age of 50, and 4 for those >50 years of age for hEDS

Diagnosis of hEDS:

The cause(s) of hEDS have not been identified, so there is currently no laboratory test available to diagnose hEDS. The diagnosis of hEDS is given to those who meet the clinical diagnostic criteria for hEDS.

To meet the diagnostic criteria for hEDS, a person must meet all three criteria (1 and 2 and 3).

Criterion 1: Generalized joint hypermobility.

Criterion 2: Two or more of the following features (A, B, and C) must be present: Either A or B or A or C or B or C...

Feature A: Manifestations of a connective tissue disorder (must have five or more of the following): 

Feature B: Positive family history (one or more first-degree relatives independently meet the current diagnostic criteria for hEDS)

Feature C: Musculoskeletal complications (must have at least one of the following) 

Criterion 3: ALL of the following prerequisites must be met: 

3. Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to:


Domains: 

1. Pain

2. Fatigue

3. Neuromusculoskeletal

4. Cardiac dysautonomia, 

5. Gastrointestinal

6. Urogenital

7. Anxiety

8. Depression 

Management advice for hEDS:

Education, advice, and nondrug treatment should be offered first of all patients, and include education on avoiding or reducing exposure to triggering factors, withdrawing medications that might worsen symptoms, maintaining good water intake and salt balance, raising legs when resting, compression garments, increasing exercise (adapted to achieve hEDS needs).  When prescribing exercise, the program might be adapted: Aerobic activities with a local resistive component, dynamic exercise (involving joint movement), exercise lying down, exercising and water (depending on temperature).  Training at a target heart rate of 75% of estimated maximum heart rate for about 30 minutes per session, 2-3 times per week as advised, adapted according to level of disability.  Increase of fluid intake, with added sodium, and the use of medical compression stockings during and after exercise can be helpful.  Meals should be avoided 1 hour prior to an exercise session.  To prevent a sudden drop in blood pressure after training, a person should cool down with gentle movements.  In those with more significant impairment of daily function, and poor response known drug treatments, medication that may help include: Fludrocortisone, midodrine, beta-blockers, ivabradine, methylphenidate/dextro amphetamine, hormonal contraceptives, desmopressin, pyridostigmine, clonidine, dihydroxy phenol searing, and octreotide.  Saline infused into the vein over 1 to 2 hours may help in extreme cases, but carries risks.

One underlying assumption was that most, if not all, of these types of EDS were a consequence of alterations in fibrillar collagen genes or in genes that encoded collagen modifiers.

Skin signs in Ehlers–Danlos syndrome: clinical tests and para-clinical methods

L Remvig,PH Duhn,S Ullman,J Arokoski,J Jurvelin,A Safi, show all

Pages 511-517 | Accepted 16 Mar 2010, Published online: 05 Aug 2010


No history of mitral valve prolapse, dural ectasia, myopia, ectopia lentis, retinal detachment, dental crowding, bifid or wide uvula, high palate, pectus deformity, pneumothorax, scoliosis, club feet, multiple fractures, osteoarthritis, hypermobility, joint dislocations, hernias, striae, soft or hyperextensible or thin skin, abnormal scarring, varicose veins, easy bruising, pes planus, severe allergies, inflammatory GI disease, tendon or muscle rupture, congenital hip dysplasia, or organ rupture.

Reactive hypoglycemia is not a feature of EDS although some EDS patient have reported it but no different than the rest of the population.  Reactive hypoglycemia (RH) is the condition of postprandially hypoglycemia occurring 2-5 hours after food intake. RH is clinically seen in three different forms as follows: idiopathic RH (at 180 min), alimentary (within 120 min), and late RH (at 240–300 min).