Article - The Role of a Rheumatologist for those with EDS

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The Role of the Rheumatologist in Ehlers-Danlos Syndrome

By

Dr. Alan W. Weinberger, M.D.

More than a hundred diseases and conditions affect the bones, joints,

tendons, ligaments, and other soft tissues that make up the musculoskeletal

system. Many of these are common degenerative processes involving age, wear,

and tear. Others are related to aberrations in the immune system, or are by

products of other diseases, such as psoriasis, diabetes, and AIDS.

Ehlers-Danlos Syndrome is one of several heritable disorders that primarily

affects the way that the body's connective tissues are made. These disorders

actually involve a variety of genetically acquired defects in the production

of collagen. Collagen is what gives every tissue it's tensile strength,

allowing tendons and ligaments to resist stretching, allowing joints to

maintain their integrity, and giving skin the ability to stretch only so far

before becoming taut and resisting further movement.

Defective collagen can adversely affect the integrity of the joints,

tendons, ligaments, skin, blood vessels, intestinal walls, and the uterus.

For many patients, depending on the type of EDS they have, the

musculoskeletal and arthritic features of their disease, and their

complications, are often the major manifestations of the disease.

Rheumatology is a specialty that deals with diseases of the musculoskeletal

system. As a subspecialty of internal medicine, Rheumatologists diagnose and

treat all forms of arthritis, and many other related diseases that involve

the musculoskeletal system as well.

While Rheumatologists are trained to recognize and care for these illnesses,

rheumatology is different than orthopaedics. Rheumatology, being a branch of

internal medicine, puts much more emphasis on diagnosis, and stresses

treatment with drugs and other non-surgical approaches. By contrast,

orthopaedics is a surgical subspecialty: the main treatment modality is

surgical.

It is surprising that many people with EDS have never seen a Rheumatologist,

or possibly even heard of the specialty of rheumatology. This article will

seek to emphasize the role that a Rheumatologist can play in diagnosis and

treatment of patients with EDS.

Because EDS is a connective tissue disease, the Rheumatologist has a crucial

role to play in its diagnosis and management. For many patients

musculoskeletal symptoms are the primary manifestations of their EDS. These

symptoms include diffusely painful joints, painful soft tissues around the

joints, neck and back problems, premature joint degeneration, joint

instability with subluxation and dislocation, and related problems. These

can range in severity from being nuisances, to becoming major impediments to

quality of life.

Many EDS patients suffer for years with musculoskeletal symptoms of their

disease before they are diagnosed. Vague aches and pains, sore muscles,

tender painful joints, neck and backaches: all these can imitate much more

common illnesses, or even be attributed to stress. Delays in diagnosis, and

frustration on the part of the patient and physician follow.

By applying a scientific approach to diagnosis, and eliminating a host of

more common possibilities, the Rheumatologist can hopefully short-circuit

the oblique route many patients follow prior to their diagnosis.

What about people with established diagnoses? There is certainly much that a

Rheumatologist has to offer. By thoroughly assessing and monitoring patient'

s flexibility, joint ranges of motion, strength, and the requirements of

their work and recreational activities, appropriate preventative advice can

be offered regarding exercise, joint protection, and activities that might

be deleterious to the peripheral joints and spine.

Specific problems, such as painful feet, subluxing shoulders, unstable

knees, and neck pain, can be addressed with the appropriate use of orthotic

devices, specific strengthening routines, education in proper body

mechanics, modification of improper worksite factors, and assistive devices.

Many EDS patients suffer from a variety of secondary soft tissue syndromes,

such as tennis or golfer's elbow, recurrent shoulder impingement syndromes,

bursitis of the hips, recurrent neck and back pain, or TMJ problems. These

are best managed by first identifying the offending activity, if any. Once

identified, it may be possible to make appropriate modifications so that the

activity can be continued. This might be avoidance of certain aspects of

various activities, or efforts to accomplish them in alternative ways.

For low back pain, for example, the simple use of a McKenzie Type lumbar

roll can provide the additional support necessary to relieve the stress on

the lumbar ligaments that can come from activities as simple as prolonged

sitting.

Additional treatments for secondary soft tissue syndromes may include the

use of non-steroidal anti-inflammatory medication, local injections,

physical therapy, and analgesics, in addition to modalities such as heat or

ice that can be used at home.

Sooner or later most EDS patients require referral to a specialist of one

type or another. Rheumatologists generally are very well suited to make

these referrals, having established working relationships with specialists

in related fields and having had the opportunity to determine who is good at

what. A patient might need to see a podiatrist or orthotist for arch

supports, a physical therapist for strengthening of specific body areas, an

occupational therapist for braces or hand therapy, an orthopaedist with

special expertise in arthroscopy to repair a torn knee cartilage, or even a

neurosurgeon to evaluate a lumbar disc prolapse. Knowing that you have a

reliable source of referral to top quality specialists is very reassuring.

In general it is far better to be referred to such a specialist by another

physician, one familiar with your case, than to be self referred. This is

not only because you are far most likely to be referred to someone with

superior expertise, but also because the referring physician is available to

help you interpret the advice and opinions important when that advice

involves expensive testing, or surgery.

Finally, although EDS can be more than enough to cope with, it does not

protect patients from anything anyone else can get. Since many

Rheumatologists also practice internal medicine, EDS patients would be well

advised to consider finding an internist as a primary care physician who is

also a Rheumatologist. This way, there will be perfect integration of

general and specialty care.

So, at some level or another, the Rheumatologist has a lot to offer a

patient with Ehlers-Danlos Syndrome