Benign Familial Joint Hypermobility Syndrome

There are several different conditions that are associated for hypermobile joints. In this article, we will discuss only two, namely Benign Familial Joint Hypermobility Syndrome (BFJHS) and Ehlers-Danlos Syndrome Type III (EDS-III).

BFJHS and EDS-III are almost identical in presentation, being limited to joint hypermobility and skin hyperextensibility (skin very stretchy). Other causes of hypermobility, such as the other 8 types of EDS, Marfan Syndrome, and Osteogenesis Imperfecta, present with other systemic effects, to a lesser or greater degree.

Both BFJHS and EDS-III are inherited (genetic conditions). The proportion of people from a caucasian background with hypermobility is about 5%, while it can be as high as 38% in people of a middle eastern or south Asian background. BFJHS is more common in women than in men and reduces with age.

The Beighton Score is a series of 5 tests and a 9 point scale that has been used for many years to diagnose joint hypermobility. More recently (1998), this tool has been updated to include other measures such as physical features and historical observations and is called the Revised Brighton Criteria. It is believed that this new measure allows for more accurate diagnosis of BFJHS.

Hypermobility Syndrome arises from changes to Type I and Type III collagen leading to connective tissues in the skin and joints that possess less tensile strength, which is the amount of load or stress a tissue or material can tolerate before it stretches or breaks.

People with BFJHS and EDS Type III often bruise easily and have papery scars following injury. Repeated hyperextension of the joints can, over time, lead to mechanical joint damage. The majority of people with hypermobility syndrome have multiple, intermittent (comes and goes) joint and soft-tissue pains, both in the arms and legs, hands and feet, as well as the back and other areas. They are also more prone to joint dislocations, included ankle dislocation. As a result, people with joint hypermobility tend to develop the same issues as people without this conditions, such as tenosynovitis or arthralgia, but tend to so more frequently and more severely. There is also a link between joint hypermobility and the development of osteoarthritis.

Treatment for hypermobility syndrome is limited. This may include physical exercises to strengthen the muscles and tissues around the joints (these will need to be done indefinitely), occupational therapy, NSAIDs (non-steroidal anti-inflammatory drugs, such as ibuprofen), and corticosteroid injections. Exercises need to be tailored to each individual by a trained professional, as doing so incorrectly can increase the severity of problems. It has also been noted that people with BFJHS tend to have poor proprioceptive capabilities, which can be improved with appropriate exercises. Some people with joint hypermobility may develop chronic pain or fibromyalgia.

Ankle and foot hypermobility is reported to affect about 60-94% of persons with hypermobility syndrome. The prevalence of pes planus (structural flat foot) may also be higher in persons with hypermobility. Pain in the joints of the foot, especially the midfoot, and the ankle, are common. Hypermobility in the large joints of the lower limb, such as the knee, is common and can lead to musculoskeletal symptoms and reduced quality of life (e.g. knee pain, ankle pain, hip pain).

Podiatric management of BFJHS and EDS Type III, as well as joint hypermobility from other causes may include the use of casted or non-casted functional foot orthoses (insoles), therapeutic exercises, padding and strapping, as well as pain management using acupuncture, corticosteroid injections, ultrasound or Shockwave Therapy, and similar means.

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