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Ever heard of Ehlers-Danlos syndrome?

May is Ehlers-Danlos syndrome awareness month. Despite being as prevalent as cystic fibrosis, EDS is not as well known among healthcare professionals. Learn more about it here 

Ehlers-Danlos

Source: Courtesy of Ehlers-Danlos Support UK

A person with Ehler-Danlos syndrome

One in 5,000 people has Ehlers-Danlos syndrome — at least twice the number as have sickle cell anaemia, phenylketonuria or haemophilia A. EDS is a heritable disorder of collagen, which is a major component of connective tissue. Mutations of the genes involved in the structure, production and processing of collagen underlie the condition. Since connective tissue is abundant throughout the body, EDS can affect the skin, ligaments, muscles, blood vessels and organs.

Subclassification

Although symptoms of hypermobility and skin scarring have been described for centuries, the first clinical description of EDS was made in 1892 and the condition was later named after two dermatologists, Edvard Ehlers and Henri-Alexandre Danlos. In 1998 the major subtypes of EDS were classified according to their clinical features and genetic findings.

The three most common subtypes are:

  • Classic
  • Hypermobility
  • Vascular
Hypermobility typeClassic typeVascular type
  • Joint laxity of large and small joints (dislocation and subluxation of shoulder, patella, jaw, hip and fingers is common and frequent)
  • Chronic joint pain develops
  • Soft, smooth skin, moderate skin elasticity, no scarring, easy bruising
  • Blue sclera
  • Fatigue and sleep disturbances

 

  • Joint laxity
  • Velvety, hyper-elastic, fragile skin that splits easily, heals slowly and leads to atrophic scars; easy bruising

 

  • Spontaneous rupture of medium or large arteries at any age from mid-teens onwards
  • Skin shows only mild hyperextensibility but is fragile. It is also thin, appearing translucent (showing underlying veins and capillaries) especially on the chest and abdomen
  • Easy bruising
  • Scars are numerous
  • Perforation of hollow organs such as bowel or uterus

 

Other features can include:

  • Gastrointestinal dysfunction (eg, delayed gastric emptying, constipation, irritable bowel syndrome)
  • Autonomic dysfunction, including postural orthostatic tachycardia syndrome (POTS)
  • Irregular menstrual cycle (and worsening symptoms around menstruation)
  • Urinary dysfunction and incontinence
  • Other skin manifestations (eg, keratosis pilaris [tiny red “goose bump” type rash seen on the upper arms or thighs more commonly in EDS than in the general population], piezogenic papules [fat herniations through defects in the dermis], petechiae [pinpoint red/purple haemorrhages])

Other features can include:

  • Other skin features (piezogenic papules on sides of feet and molluscoid pseudotumors [cystlike nodules on bony prominences])
  • Blue sclerae
  • Hernias and prolapses (uterine, anal)
  • Scoliosis

 

Other features can include:

  • Distinctive facial appearance (prominent eyes, thin face, lips and nose, lobeless ears)
  • Small fingers and toes, which may be hypermobile, but no large joint hypermobility
  • Early onset varicose veins
  • Premature aging of the skin on the hands and feet
  • Bleeding or receding gums

 

Clinical diagnosis is based on the presence or history of major and minor diagnostic criteria alongside family history. The vague and insidious onset of some symptoms means patients often go undiagnosed or are misdiagnosed for years.

All EDS subtypes tend to share common characteristics of:

  • Soft skin
  • Easy bruising
  • Joint laxity

A genetic defect has been identified for all subtypes apart from hypermobility type (EDS-HT); this is the most common subtype and the focus of this article.

The classic and hypermobility subtypes together make up 90% of all EDS cases and men and women of all racial and ethnic backgrounds can be affected. Life expectancy at birth for people with the classic and hypermobility subtypes is usually as for the general population although considerable morbidity and disability often results, particularly with EDS-HT.

Vascular EDS is thought to account for around 4% of EDS cases and is life-threatening. Vasculature or organ rupture is a major cause of early death at a median age of 48 years. Pregnancy is particularly dangerous in vascular EDS.

Diagnosis

Joint hypermobility is often the first clear manifestation of EDS-HT in childhood. Diagnosis of EDS-HT is made on the basis of an individual showing all three major diagnostic criteria accompanied by minor diagnostic criteria.

Common EDS subtypes and their symptoms[1]

Major diagnostic criteria

  • Joint hypermobility (score ≥5 on Beighton scale*)
  • Soft skin with normal or only slightly increased extensibility
  • Absence of skin fragility or other skin or soft tissue abnormalities such as poor healing, hernias, translucent skin, atrophic scars

Minor diagnostic criteria

  • Positive family history
  • Recurrent joint dislocations or subluxations
  • Chronic joint, limb or back pain
  • Easy bruising
  • Functional bowel disorders (reflux, irritable bowel syndrome)
  • Autonomically mediated hypotension or postural orthostatic tachycardia syndrome (POTS)
  • High narrow palate
  • Dental crowding

* Beighton score (out of a maximum score of 9 points) to assess degree of hypermobility by:

  • Bending small finger back more than 90 degrees (1 point per little finger)
  • Bending thumbs to touch forearm (1 point per thumb)
  • Hyperextending elbows and knees beyond the straight line (1 point for each joint [maximum 4 points])
  • Putting hands flat on the floor without bending knees (1 point)

There is overlap between EDS-HT and a condition known as joint hypermobility syndrome (JHS) and discrepancy among clinicians as to the relationship between them. EDS-HT tends to be viewed as more serious and the associated hypermobility occurs alongside other significant signs and symptoms which are the manifestations of faulty collagen.

Citation: The Pharmaceutical Journal DOI: 10.1211/PJ.2014.11138392

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