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 its 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 it's 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 patientsí 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 car 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.