Editor’s Memo: Painful Genetic Diseases – Practical Pain Management – by Forrest Tenant – April 2017
Patients who have painful genetic diseases make up 20% to 30% of my practice.
These patients often report to me that they are misunderstood, that they receive poor pain care, that doctors are afraid of them, and that they have not been able to obtain ongoing chronic pain care.
Part of the problem is that some medical practitioners, including those in emergency rooms and pain clinics, don’t believe that these genetic diseases cause pain.
Pain practices throughout the United States are now seeing adults with painful genetic diseases (Table 1).
Unfortunately, once pain begins, it
- may be progressive,
- produce a debilitative clinical state, and
- be associated with a shortened lifespan.
In some disorders, pain may not begin until the patients have grown into adulthood.
I know of no institution or pain practitioner who has made care of painful genetic diseases a cause or an avocation. This is particularly unfortunate because it is my opinion that pain practices everywhere are now encountering patients with painful genetic diseases, but we really don’t know much about them.
One thing, however, is clear:
these unfortunate individuals need pain care.
What’s more, an aggressive, palliative form of care may be required, since genetic diseases are not curable and are usually progressive as patients age.
Categories of Genetic Diseases
I recommend that painful genetic diseases be placed in 1 of 3 categories:
- Connective tissue
Just how do genetic diseases cause pain?
connective tissue diseases usually cause an erosion of soft tissues at some point in the patient’s life. This includes nerves, ligaments, tendons, cartilage, and fascia.
Ankylosing spondylitis affects the spinal column, sacroiliac joints in the pelvis, hips, shoulders, and other joints. Early diagnosis and treatment is important to help slow disease progression, which may lead to irreversible autofusing of the spine’s vertebral bodies and joints.
A major point to be made about painful genetic diseases is that
pain will almost always worsen as the patient ages.
Dosages and potency of medications may have to be increased.
The natural inclination of pain practitioners to taper or reduce opioids and other analgesics may be very inappropriate as the underlying genetic disease may progress over time, increasing tissue destruction and pain.
Although painful genetic diseases are not curable, pain practitioners should attempt to develop some innovative dietary, hormonal, or exercise measures that assist symptomatic analgesia and perhaps retard deterioration.