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Retractions in Hypermobility type Ehlers-Danlos syndrome

Study on 119 patients

Consequences on Beighton scale, assessment and discussion about its diagnosis relevance

Poster. First international Symposium on the Ehlers-Danlos Syndrome, 8-11 September 2012, Ghent, Belgium.

Pr. C. HAMONET, Service de Médecine Physique et de Réadaptation, Groupe hospitalier Cochin-Port-Royal-Hôtel-Dieu, 1 place du Parvis Notre-Dame, 75004, Paris, France. Centre de référence de la maladie de Fabri et des maladies héréditaires du tissu conjonctif, 104 Boulevard Raymond-Poincaré, 92380 Garches, France.

E. Vlaminck, Orthopédie Vlaminck, 34 rue de l‘Orangerie, 78000 Versailles, France.

N. Serre, Association Apprivoiser le syndrome d’Ehlers-Danlos (les Intermittents du handicap), ASED, 119 rue Bellevue, 91330 Yerres, France.

 

Introduction

Joint hypermobility is in Ehlers-Danlos syndrome (EDS) the most well-known sign. It appears in the description of Ehlers unique case (« almost square external subluxations are located on fingers ») in 1900 (1). Until now, it remains a key-sign for diagnosis.

Routine examination of patients with EDS made us discover suprisingly the prevalence of retractions affecting hamstringsbut alsotriceps surae and plantar aponeurosis.

 

Material & methods

Our study focuses on 119 patients suffering from hypermobility type EDS.

The retraction of hamstring muscles can be assessed through Lasegue method. The patient lies on his back while his knee is being held by the examiner’s hand; his pelvis must not rise (the joint between the lumbar and the sacrum will compensate). We considered as synonymous of retraction, given the difficulty of examination of these patients, an angle of thigh flexion that will be equal or smaller than 80°, while the knee is stretching. One has to be careful not to dislocate the hip while doing so.
We have established 4 levels of hamstring retractions: 1 (80° to 59°), 2 (60° to 44°), 3 (45° to 29°), 4 (30° to 0°).

At the same time, we have measured the distance between the fingers and the floor, the ability to lay the palm flat on the floor, assessed the Beighton scale (2, 3, 4) and the extent of sole retraction by quantifying the excavation of the plantar arch to podoscope. We chose the following scale: 1 (1/3 of the soles), 2 (half of the soles), 3 (2/3 of the soles), 4 (the whole soles). The retraction of the triceps muscle has not been systematically taken into account, as it is frequent and mild.

Beighton score (1, 2, 3)
1
More than 10º hyperextension of the elbows
2
Passively touch the forearm with the thumb, while flexing the wrist.
3
Passive extension of the fingers or a 90º or more extension of the fifth finger (Gorling’s sign). This is used as a “Screen Test”.
4
Knees hyperextension greater than or equal to 10º (genu-recurvatum).
5
Touching the floor with the palms of the hands when reaching down without bending the knees. This is possible as a result of the hypermobility of the hips, and not of the spine as it is commonly believed.

 

Results

I - Characteristics of the population
119 patients from 5 to .69 years old
93 women (79%) from 6 to 68 years old
26 men (22%) from 5.to 59 Years old
Hypermobility type EDS

II - Retraction of hamstring muscles in 119 cases of hypermobility type EDS
- Number of cases with hamstring muscles retraction: 102 (86%), 78 women (76%), 24 men (24%).
All these retractions are symetric
- Severity
     - 1 (80° to 59°): 16 cases (16%), women (21%)
     - 2 (60° to 44°): 32 cases (31%), women (36%)
     - 3 (45° to 29°): 36 cases (35%), women (27%)
     - 4 (30° to 0°): 18 cases (18%), women (17%)

III - Retractions of plantar fascia in 119 cases of EDS
- Cases of plantar fascia retraction: 119 (100%).All are symmetric.
- Severity of plantar fascia retractions.
     0 - No retraction (flat foot): 0 cases
     1 - 1/3 retraction: 12 cases (10%),
     2 - Half retraction: 30 cases (25%).
     3 - 2/3 retraction 53 cases (45%).
     4 - Whole retraction: 24 cases (20%).

IV - Relationship between retraction of hamstring muscles and retractions of plantar aponeurosis (102 cases)
     - 1 (80° to 59°): 16 cases, mean severity scale of plantar fascia retraction: 2, 6°
     - 2 (60° to 44°): 32 cases, mean severity scale of plantar fascia retraction: 2, 9 ° 
     - 3 (45° to 29°): 35 cases, mean severity scale of plantar fascia retraction: 2, 2 ° 
     - 4 (30° to 0°): 19 cases, mean severity scale of plantar fascia retraction: 2,7 °
NO CORRELATION

V - Relationship between the Beighton test (touching the floor with the palms of the hands when reaching down without bending the knees) and the retraction of hamstring muscles
- 82 cases (80%) with retraction of hamstring muscles are inability to touch the floor with the palms:
Severity of retractions:
     - 1 (80° to 59°): 6 cases (7%),
     - 2 (60° to 44°): 25 cases (30%),  
     - 3 (45° to 29°): 35 cases (43%),
     - 4 (30° to 0°): .16 cases (20%),
CORRELATION EXISTS SINCE A 60° RETRACTION AND INCREASE IF THE RETRACTION INCREASE.
- 20 cases (20%) with retraction of hamstring muscles have the ability to touch the floor with the palms
Severity of retractions:
     - 1 (80° to 59°): 10 cases,
     - 2 (60° to 44°): 7 cases,
     - 3 (45° to 29°): 1 case,
     - 4 (30° to 0°): 2 cases.

 

Discussion

Identification of early muscular retraction (from childhood) in EDS raises three questions:

- The first question is related to pathophysiology: what mechanisms can explain the coexistence of joint hypermobility and connective tissues retractions? Genetic factor? Biomechanical factor? Dystonic extrapyramidal associated syndrome?

- The second question is related to semiology: retraction of flexor muscles of the knee, which are also extensor muscles of the hip, limits its flexion. Yet, it is this movement which is measured in the “palms flat on the floor” Beighton test, rather than spinal column mobility. This introduces a semeiological bias undocumented until now.

- The third question is therapeutic: do we need to treat these retractions?

Furthermore, the Beighton test has limitations and its relevance in diagnosis of EDS seems exaggerated to us:

First, it is changing with time. It may be negative whereas, in childhood or teenage, the patient was able to put one foot behind their hand. In any case, we have observed that hypermobility often decreased with age in EDS. It may also be missing in a relative and appear among siblings.

On the other hand, it only assesses few joints, neglecting shoulders, pronation and supination, wrist, neck rotation, all affected in EDS. At last, 4/9 score needed can be achieved with a recurvatum of elbows and knees of 10°, which is common among all young women.

 

Conclusions

A great number of patients (86%) suffering from hypermobility type EDS have retractions of hamstring muscles, which consequently need to be included in the clinical syndrome. Seventy-three percent of these patients loose a point in the Beighton scale (when trying to touch the floor with the palms).

This makes us question the relevance of such a score in diagnosing hypermobility type EDS. Other criticisms have to be expressed regarding the value of Beighton scale: joint hypermobility changes with age within one person and their relatives. It may even be missing. Clinical examination can be distorted by pain and muscular contracture. Some joints, in particular shoulders, are not affected although important for EDS patients in their daily activities. Elbow-recurvatum and knee-recurvatum, which allow the 4/9 usually required, are frequent in young healthy women, with no pathologic significance.

Therefore, such a test has to evolve since in case of negative result, one cannot rule out the diagnosis of EDS. In addition, it does not give the deserved space to other manifestations, such as gastrointestinal, respiratory or neurologic signs, which are still too often excluded from the clinical presentation (4) and excluded of rehabilitation (5).

 

References

(1) Ehlers E., Cutis laxa. Neigung zu Haemorrhagien in der Haut, Lockerung mehrerer Articulationen (case for diagnosis). Dermat. Ztschr., 8 : 173, (1901).
(2) Beighton PH, Horan F., Orthopedic aspects of the Ehlers-Danlos syndrome. J Bone Joint Surg [Br]. 1969; 51: 444-453.
(3) Beighton PH, Solomon L, Soskolone Cl., Articular mobility in an African population. Am. Rheum. Dis.1973; 32 : 413-18.
(4) Beighton P, De Paepe A., Steinman B. & al., Ehlers-Danlos syndrome: revised nosology, Villefranche 1997, Am. J. Med, Genet, 1998, 77, 33-7.
(5) Hamonet Cl., Ehlers-Danlos Syndrome & PMR, 18th European Congress of Physical Medicine & Rehabilitation Medicine, Thessaloniki, Greece, 29 May 2012.

 

Contacts

Pr.  Claude Hamonet, Service de Médecine Physique et Réadaptation, Hôtel-Dieu de Paris, 1 place du Parvis Notre-Dame, 75181 Paris Cedex 04. Tel.: 003314842348246  & 0033660687306. E-mail: >pr.hamonet@wanadoo.fr<

 

Lasegue test : 45° (retraction).Impossibility to put the palms on the floor.