Rheumatoid Arthritis and Genetics: Is it Hereditary?
Rheumatoid arthritis (RA) is a systemic autoimmune disease in which your body’s natural defense system turns on you and attacks the synovial membrane in the joints. The immediate effects are inflammation, tenderness and stiffness of the joint areas. As the disease progresses erosion of the connective tendons is followed by destruction of the joints themselves leading to loss of function and painful, often extreme deformity. The disease may also manifest symptoms in various organs, hence its designation as a “systemic” disease, even though most commonly it causes walking impairments.
The Stages of Rheumatoid Arthritis
The pathology of RA in the joints follows a predictable course from initial swelling to final deformity and can best be compared to a siege which may take decades to completely unfold. The extent of final damage will depend in large part on your ability to obtain an early diagnosis and thereby affect treatments which can mitigate (although not completely halt) the condition’s destructive course.
- Stage I – During this initial stage you will begin to notice swelling of the joints. The swelling will be accompanied by varying degrees of stiffness and tenderness. At this point the disease will be difficult (but not impossible) to diagnose and may be mistaken for the more common osteoarthritis.
- Second II – As the immune system’s assault on the synovial membrane intensifies inflamed synovial tissue begins to expand, ultimately invading the joint itself and attacking the cartilage within.
- Stage III – During stage III of the disease enzymes released by the synovium commence their attack on the joint cartilage. After eating their way through the cartilage these enzymes then attack the underlying bone as well. It is during this phase of progression that deformity begins as joints, bereft of structural support, misalign and lose function.
- Stage IV – Once the offensive enzymes have run out of material to attack the intensity of the assault begins to wane and inflammation begins to subside. While this may seem like a welcome development, the fact is that the damage done to your joints during the prolonged siege by your immune system cannot be undone.
The Genetic Link of Rheumatoid Arthritis
There are many suspected triggers for rheumatoid arthritis ranging from Vitamin D deficiency to the herpes virus. Two, however, stand out above the rest: smoking and genetics. Numerous studies have made the smoking/RA connection and it is now accepted that smokers, particularly heavy smokers, run three times the risk of developing RA that their non-smoking counterparts do.
As for genetics: the role they play in the development of RA is slowly coming into focus as data streams in from research studies worldwide. While there is still no way to conclusively say “You have these genetic markers therefore you will develop RA” the role genes play in both susceptibility and development of the disease is far better understood than it was even 20 years ago. Examples:
- The Twins Study – Studies on identical twins have shown that if one twin develops RA the other stands a 15% chance of developing the disease as well. Compare that to a 4% chance in non-identical twins and a 1 % chance in the general population and the important role genetics play in the development of RA becomes apparent.
- First Degree Relatives With RA – Studies have also shown that having a direct family member (genetic father, mother, sister, brother) with RA elevates the chances of another family member developing the disease. While exact numbers vary from study to study the general consensus is that this elevated risk may be 2 to 3 times the risk within the general population.
- Role of Other Immune System Maladies – It is thought by some researchers that the genes responsible for the development of RA will in time be shown to also play a role in other autoimmune diseases like type 1 diabetes, although it is still too early in the research process to pinpoint specific genes.
Genetic research holds perhaps the best chance at finally unravelling the puzzle of rheumatoid arthritis but there are many people who have questions as to why governments around the world would spend so much time and energy focusing on the seemingly remote possibility that we’ll find an RA gene and why they don’t spend more money instead on developing more effective and affordable everyday treatments.
The fact is the potential benefits of genetic research into rheumatoid arthritis could revolutionize our entire understanding and approach to the disease. Some of the potential benefits include:
- Enhanced Predictive Abilities – Identifying the gene or genes likely responsible for RA would enable scientists to develop simple and effective diagnostic tests for the disease. Guesswork would be largely eliminated and there would be no more weeks, months or years waiting to find out if an initial diagnosis was in fact correct.
- New Frontiers of Treatment – Once the genetic culprits are identified work would commence on developing genetic treatments for RA that would take the place of and hopefully eliminate the need for many of the therapies used today. It might even be possible to develop a gene therapy that would cure the afflicted altogether, a scenario unthinkable in your grandparents’ time.
- Tailoring Treatments to Specific Patients – While gene therapy may someday provide a cure for RA people suffering from the disease today still need treatment. To that end, knowledge of your specific genetic risk factors could help your doctor tailor a treatment plan for you that is potentially far more effective than anything available today and help significantly reduce your experience of suffering from the disease.
While rheumatoid arthritis remains a stubbornly incurable condition the potential for significant breakthroughs in knowledge and treatment have never been greater than they are today. Researchers everywhere believe we are living in a time that will see mankind’s first demonstrated ability to arrest the pathology of this disabling and disfiguring menace and genetic research is leading the way toward that goal.
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