Chronic Pain Conditions that Are Hereditary

Pain that persists for longer than three months is designated as chronic pain.  In most circumstances, chronic pain is associated with an injury or disease, but in rare instances, there may be a strong genetic component. These hereditary pain conditions could include irritable bowel syndrome, pelvic pain, musculoskeletal pain and dry eye disease, according to a study published in the journal Pain.

The study’s authors examined the medical records of 8,000 sets of identical twins. They found that there was a high degree of likelihood that if one twin developed one of these chronic pain conditions, then the other twin would as well. The researchers concluded that two-thirds of the risk of developing one of these conditions was based on genes while the remainder was due to environmental factors.

What Is a Hereditary Condition?

You may have heard that DNA is the “blueprint of life.” That means that DNA which makes up your genes governs much of how you develop. Your genes are passed down from your parents, half from each parent. The most obvious examples of this include eye color or gender.

When you inherit genetic material from your parents, you also may receive damaged genes.  These mutated genes may predispose you to certain health conditions like hemophilia or breast cancer. About 60 percent of people are affected by a hereditary condition, ranging from mild to quite severe. If a person with a genetic condition has children, they might pass this down to those children.

This is important because if you have a family member with certain hereditary disorders, then you may have an elevated risk yourself. You should discuss your family’s medical history with your doctor who may flag certain genetic conditions in your family so that you can be tested for them. Your doctor may even perform DNA tests to see if you carry the gene for certain conditions; even if some illnesses aren’t present now, they may appear at some point in your future.

You may be able to avoid health conditions for which you carry a genetic marker by taking some preventive care. A common example is undergoing a mastectomy (removal of breast tissue) if you carry the BRCA1 or BRCA2 mutation for breast cancer. This can lower the risk of developing breast cancer by 90 or 95 percent.

Many hereditary conditions, however, cannot be fully prevented. For example, Huntington’s disease is a hereditary condition that is fairly predictable if a parent has it, but there is no real way of preventing it.

Is Chronic Pain Hereditary?

Although the genes that govern various chronic pain conditions haven’t been fully mapped, there is mounting evidence that many of these conditions are influenced by genes. One important example of this is lower back pain caused by spinal disc deterioration. Studies suggest that disc deterioration runs in families and therefore lower back pain is more likely if a family member has it.

Pain itself may have a strong genetic component.  The gene variant DRD2 is present in more people who suffer severe pain. People who experience only mild pain more often carry the gene variant DRD1. Although this presents few benefits for chronic pain patients now, as we understand how DRD1 and DRD2 affect pain symptoms, it could prove very important in future pain therapies.

Growing research into the genetics of chronic pain conditions reveals that more and more of these are influenced by heredity.  Migraine gene research has exploded in recent years, and experts now believe that there are more than 38 potential gene loci that govern disease expression. Some of these influence vascular dysregulation while others affect neuronal hyperexcitability.

Fibromyalgia is another chronic pain condition that appears to have some genetic components. Although fibromyalgia does not pass directly from parent to child, there is an elevated risk if family members have FM. Genetic studies have begun to identify genes that are essential in pain modulation that may be mutated among FM patients. Apparently, some of these key genes also play a role in anxiety and depression which may explain why antidepressants are effective in treating fibromyalgia.

How Hereditary Pain Conditions May Offer Therapeutic Breakthroughs

It may not sound all that encouraging to learn that some people are predisposed to chronic pain from birth, but many medical researchers are very excited by advancing genetic studies. By identifying genes that are important for pain, researchers can gain insights into how pain is produced, regulated and interpreted.

One outstanding example is erythromelalgia, which is a rare pain condition in which mild sensations like tight shoes or spicy food is interpreted as extreme heat. Erythromelalgia has been linked to a mutation in the SCN9A gene, which governs the formation of sodium channels in nerve cells. The mutation causes these sodium channels to open more readily and stay open longer, causing pain symptoms of erythromelalgia.

Investigations into the SCN9 gene suggest that it plays a key role in pain sensitivity. SCN9 modulation has been known to remove pain completely as well as produce severe pain symptoms. This governing role in pain sensitivity is why many biotechnology companies are developing therapies involving the SCN9 gene.

The most promising of these new therapeutic approaches is gene therapy. Gene therapy uses a vector, usually a virus, to transfer a corrected gene to replace an abnormal one. In recent years, new gene therapies have come online with FDA approval for treatment of certain cancers and vision loss. Many more gene therapies are in the pipeline for FDA approval.

One of the most exciting advances in the field of gene therapy has been CRISPR. CRISPR is an affordable and easy to use technology that edits genes.  Instead of trying to replace an entire mutated gene which consists of long, cumbersome strands of DNA, CRISPR allows clinicians to target the mutated sequence and substitute a corrected version.

Early in 2020, a CRISPR gene therapy was first used on a person with a genetic condition that causes blindness. This was the first time that a CRISPR modified gene was deployed in a living person.

Article written by: Dr. Robert Moghim – CEO/Founder Colorado Pain Care

M.D. Disclaimer: The views expressed in this article are the personal views of Robert Moghim, M.D. and do not necessarily represent and are not intended to represent the views of the company or its employees.  The information contained in this article does not constitute medical advice, nor does reading or accessing this information create a patient-provider relationship.  Comments that you post will be shared with all visitors to this page. The comment feature is not governed by HIPAA and you should not post any of your private health information.