hEDS v’s HSD – What is the difference?

 

New 2017 Criteria for diagnosing hEDS

The clinical diagnosis of hEDS requires the simultaneous presence of criteria 1 AND 2 AND 3.

Criterion 1: Generalized joint hypermobility (GJH)

• The Beighton score: ≥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.

In individuals with acquired joint limitations (past surgery, wheelchair, amputations, etc.) affecting the Beighton score calculation, the assessment of GJH may include historical information using a five-point questionnaire; if the Beighton score is 1 point below the age- and sex-specific cut-off AND the 5PQ is ‘positive’ (= at least 2 positive items), then a diagnosis of GJH can be made. [Notes and qualifications concerning this criterion in “The 2017 International Classification of the Ehlers-Danlos Syndromes,” Malfait et al.]

Criterion 2: Two or more among the following features A, B and C MUST be present (for example: A and B; A and C; B andC;A and B and C)

Feature A: systemic manifestations of a more generalized connective tissue disorder (a total of five 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 morbidobesity 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:

• positive wrist sign (Steinberg sign) on both sides;
• positive thumb sign (Walker sign) on both sides
• Arm span-to-height ≥1.05

10. Mitralvalveprolapse(MVP) mild or greater based on strict echocardiographic criteria

11. Aortic root dilatation with Z-score>+2

Feature B: positive family history, with one or more first degree relatives (biological mother, father, brother, sister) independently meeting the current diagnostic criteria for hEDS.

Feature C: musculoskeletal complications (must have at least one)

1. Musculoskeletal pain in two 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)
   a. Three or more atraumatic dislocations in the same joint or two or more atraumatic dislocations in two different joints occurring at different times
   b. Medical confirmation of joint instability at 2 or more sites not related to trauma

Criterion 3: all the following prerequisites MUST be met

• Absence of unusual skin fragility, which should prompt consideration of other types of EDS
• Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions. In patients with an acquired connective tissue disorder (e.g., lupus, rheumatoid arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 (chronic pain and/or instability) cannot be counted
• Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions. In patients with an acquired connective tissue disorder (e.g., lupus, rheumatoid arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 (chronic pain and/or instability) cannot be counted towards a diagnosis of hEDS in this situation.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, neuromuscular disorders (e.g., myopathic EDS, Bethlem myopathy), other hereditary disorders of connective tissue (e.g., other types of EDS, Loeys-Dietz syndrome, Marfan syndrome), and skeletal dysplasias (e.g., OI).
• Exclusion of these considerations may be based upon history, physical examination, and/or molecular genetic testing, as indicated.

General Comment

Many other features are described in hEDS but most are not sufficiently specific or sensitive to be included in formal diagnostic criteria, at the moment (see “Hypermobile Ehlers-Danlos Syndrome (a.k.a. Ehlers- Danlos Syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical Description, and Natural History” by Tinkle et al. These include but are not limited to: sleep disturbance, fatigue, postural orthostatic tachycardia, functional gastrointestinal disorders, dysautonomia, anxiety, and depression. These other systemic manifestations may be more debilitating than the joint symptoms, often impair functionality and quality of life, and should always be determined during clinical encounters. While they are not part of the diagnostic criteria, the presence of such systemic manifestations may prompt consideration of hEDS in the differential diagnosis.