Joints and Bones in Marfan Syndrome

Joints and Bones in MFS

Posted By Alan Hakim, February 7, 2015

Joints and Bones in Marfan Syndrome

A person with MFS typically has very distinct physical features. They are usually:

• tall,
• slim,
• disproportionately long limbed and long-fingered/toed, and
• flexible in their joints.

The assessing clinician must measure the arm span, leg and torso length, and hand and foot length, and compare these to the individuals’ height. They will be looking for very specific disproportionate measurements that define the Marfanoid Habitus (see tab in section menu). It is very important to understand that the vast majority of people with a marfanoid habitus do not have MFS.

As well as this body shape a person with MFS may have:

• a scoliosis (curvature of the spine),
• abnormal shape to the sternum (breast bone) with protrusion or indentation,
• a small jaw with over-crowding of the teeth,
• a high arch palate (roof of the mouth),
• flat feet, and
• early onset of osteoarthritis (wear and tear), particularly at the hips that may also have
• been stiff because the hip joint sockets are particularly deep.

These typically appear during the late-childhood / early teenage growth phase, but may arise sooner. They do not need to be present to make a diagnosis of MFS.

Symptoms and tests

The main symptoms that might arise are joint pain (e.g. back or hip pain) recurring soft tissue (tendon) injuries (e.g. at the shoulder or foot), fatigue (usually from the pain and it also disturbing sleep), and difficulty with ‘over-bite’ at the jaw or over-crowding of the teeth. The jaw and tooth problems might also cause difficulty with speech – forming / mouthing words. Scoliosis and/or indentation of the breastbone may also lead to breathing difficulties because of changes in shape of the chest.

Tests are most likely to include blood tests to exclude cause of fatigue or other types of arthritic condition, and imaging (e.g., x-rays, MRI, ultrasound) looking for evidence of damage to joints and soft tissue, the severity of a scoliosis or rib cage issue, or problems with the jaw/teeth.

Treatment

General: Pain, fatigue, joint injuries, and joint wear and tear is no different from any other rheumatic condition in that clinicians may recommend any of the common types of treatment such as painkillers, local steroid injections, therapies such as physiotherapy and occupational therapy, and pain management programmes etc.

Where one might consider adapting treatment however, would be if there was a need to be cautious in treating hypermobile joints, or where there is also a heart condition (see below) or severe scoliosis.

Sometimes there is a need for psychological support, with advice from a clinical psychologist. This may help manage the diagnosis and deal with certain symptoms and complications. There might also be issues of low self-esteem, for example a difficulty coping with ones’ appearance as the marfanoid habitus becomes apparent during teenage growth.

In general there would be no reason to avoid day-to-day activities and sport etc. However, if there are problems with the spine and joints, or with the heart then a doctor is likely to advise avoiding contact sports, heavy lifting, and high impact aerobic activities such as distance running.

Scoliosis: If there is a mild curvature this should be monitored annually through to adulthood and then approximately every 2-5 years depending on how much it has changed (if at all) and how quickly. Advice is very dependent on the individual situation. Exercising correctly to retain posture and core strength applies to all. In some cases a back brace may be recommended in a child while they are still growing. In more severe cases of scoliosis (typically greater than 50 degrees curvature), surgery is   usually needed. This would require an expert assessment and explanation of the procedure and the risks and benefit by a specialist spinal orthopaedic surgeon.

Correction of the breastbone and ribs: Rarely, the sternum (breastbone) and chest wall can be so severely indented that it presses on the lungs and heart and affects breathing. Surgery may be required to relieve pressure on these organs. As with scoliosis, this requires expert opinion, and typically that of a combined cardiothoracic and orthopaedic surgical team.

Dr Alan J Hakim, Trustee and Chief Medical Advisor

Published February 2015. Planned review January 2017