Is there a genetic component to fibromyalgia? Is it hereditary? Keep reading to learn more about studies that explore fibromyalgia genetic links, the genetic factors of fibromyalgia, and more.
Fibromyalgia is a complex chronic pain disease. Several factors play into its development and progression, including your nervous system and psychological and environmental factors. [1] Scientists and researchers believe there is evidence fibromyalgia may also have a genetic component.
Before discussing the complexities of human genetics and what happens when tiny changes occur in genes and chromosomes, we must understand one of the root causes of fibromyalgia, central sensitization.
Central Sensitization and Fibromyalgia
Scientists believe central sensitization may be the primary cause of fibromyalgia pain. In fact, evidence suggests that nearly all chronic pain conditions involve central sensitization in some form.
Central sensitization is increased activity in the central nervous system (the brain and the spinal cord) caused by repeated nerve stimulation. This causes your brain to hyper-react to pain and pressure, leading to widespread pain, increased sensitivity to pain, and allodynia. [2]
Allodynia is a condition in which “normal” sensations cause pain. For example, hair brushing against your face may be annoying for someone without allodynia. But a person with allodynia may perceive the same sensation as uncomfortable or painful.
People with central sensitization and chronic pain frequently also experience symptoms such as [3] [4]
- anxiety
- fatigue
- depression
- mood changes
- cognitive problems
- sleep disturbances
- other sensory hypersensitivities, such as sensitivity to noise or smells
Research into Families with Fibromyalgia
But what about the genetic basis of central sensitization, particularly when it comes to fibromyalgia? One 2014 study indicated that fibromyalgia is more prominent in some families than others, suggesting a genetic link. [5] [6]
Hereditary Basis for Fibromyalgia
Genetics, the study of heredity and gene variations inside family groups, is a highly complex field of study. Although scientists have not identified a particular gene, chromosome, or biomarker that scientists agree “controls” or “causes” fibromyalgia, they have found some that may provide answers in the future.
A small 2017 study published in the Korean Journal of Internal Medicine suggested fibromyalgia may be an autosomal-dominant trait, meaning only one parent needs to pass on the gene for the child to inherit it. 52% of the parents and siblings in the study had fibromyalgia symptoms. Other studies have published similar results. [1]
One study published in Arthritis Rheumatism isolated two variant forms of genes that may affect fibromyalgia: D17S2196 and D17S1294 on chromosome 17p11.2–q11.2. [5]
Another study published in Molecular Pain suggested that other genes may be responsible, including: [2]
- SLC64A4 – The gene that affects serotonin transport.
- TRPV2 – A gene that affects the immune system and nerves. [7] [8]
Scientists and researchers do not entirely agree on which genes and chromosomes are responsible for fibromyalgia. One of the reasons they disagree is because many things can contribute to the genetic variations that have been seen in fibromyalgia, so it is difficult to point to just one factor as the definitive answer.
For example: [2]
- Trauma from early life events, such as premature birth or physical or sexual abuse in childhood, is associated with nerve changes and increased sensitivity to pain and fatigue.
- Psychosocial stressors (chronic stress, abuse, assault, etc.) in adulthood can contribute to widespread chronic pain by altering how some genes function and interfering with pain perception.
Fibromyalgia Correlation between Siblings
Studies have shown that pain response and genetics are linked in some chronic pain cases.
In fibromyalgia, first-degree relatives (parents, children, and siblings of someone with fibromyalgia) have a 13% higher risk of developing the condition. [2] Another study found siblings had a 27% chance of developing fibro. [5]
Studies on Fibromyalgia Genetic Markers
Although many doctors and scientists believe there is evidence genetics or heredity plays a role in developing fibromyalgia, they have not isolated a particular gene or biologic marker that is always present in people with fibromyalgia.
A biomarker, or biologic marker, are cellular characteristics that doctors and scientists can measure. Biomarkers can be in your blood, urine, or other tissues. Your doctor may need blood, urine, or soft tissue samples from biopsies to measure these biomarkers. Then they can use these measurements to find a diagnosis or determine if a treatment is working.
For example, a doctor can use blood tests to diagnose prediabetes based on the measurable amounts of sugar in your blood, or run a genetic test on an infant to verify Down syndrome based on variations in specific chromosomes.
Currently, no specific fibromyalgia biomarkers or genetic variations are always present or absent in people with fibromyalgia, so diagnosing or looking for genetic links solely based on these factors is not an option. Finding a specific biomarker for fibromyalgia is even more challenging because your environment and certain behaviors can affect your DNA to a certain extent. [2]
Chromosomal Variants
Some researchers believe changes to mitochondrial DNA may hold the solution to the genetic basis of fibromyalgia.
Mitochondria are tiny structures in your body’s cells that produce energy. They are often called the “powerhouse of the cell.” Since fatigue is a common complaint with fibromyalgia, it stands to reason that the mitochondria may be the culprit.
In a study published by The Journal of Pain, scientists examined chromosomal changes in mitochondrial DNA as a potential source of chronic pain conditions. Scientists studied chromosomes from people with chronic pain conditions, looking for:
- Rare mutations
- Variations common to all the participants
- More than one type of DNA within the cell
- Links to a common ancestor in a specific geographic area (called a haplogroup)
Of all the chronic pain conditions represented in the study, the participants with fibromyalgia had the strongest chromosomal connections. Based on this evidence, the researchers determined that people with these chromosomal variations may have an increased risk of developing fibromyalgia. They also noted that this risk appears higher in women than men.
More research is needed to confirm these findings. But overall, the study’s results indicated that chromosomal changes in the mitochondrial chromosomes may contribute to fibromyalgia. [9]
Genetic Basis for Central Sensitization
Since central sensitization is the primary underlying cause of fibromyalgia, and nearly all chronic pain conditions have central sensitization features, the next question becomes: Could genetics affect central sensitization?
Imaging studies of brain matter in people with fibromyalgia indicate changes to the areas of the brain that control pain perception and neurochemical imbalances. [3]
The same study has identified several gene variations that may affect central sensitization and factor into the development of fibromyalgia. These genes include genes that control
- serotonin reception
- serotonin transportation
- dopamine reception
- catecholamine o-methyl transferase (COMT)
Serotonin, dopamine, and catecholamines are neurotransmitters. They carry messages along the nerves to and from the central nervous system, affect your moods, and regulate other body functions, including sleep and appetite. Gene variations affecting these neurotransmitters could account for some typical fibromyalgia symptoms. [1]
Since there is also strong evidence that environmental factors contribute to fibromyalgia, some scientists are looking at the possibility that epigenetics may be the key to unlocking the secrets of fibromyalgia.
Epigenetics is the study of the small genetic changes or mutations caused by your environment and behaviors and how these changes affect how your genes work. [3]
Take the Fibromyalgia Self-Assessment
Fibromyalgia is a complex chronic condition caused by a combination of factors, including genetics. Since no single gene or biologic marker is always present in people with fibromyalgia, diagnosing the condition can be challenging.
In 2010, the American College of Rheumatology recommended diagnosing fibromyalgia based on specific criteria. It developed two fibromyalgia tests to measure these symptoms and determine the likelihood of fibromyalgia. These tests have two parts to them: [10]
- The Widespread Pain Index (WPI)
- The Symptom Severity Score (SSS)
In 2016, scientists reviewed the criteria and updated the recommendations to minimize the chances of misdiagnosing the condition when key symptoms are present. [11] Classic symptoms of fibromyalgia include:
- widespread pain that lasts for more than three months
- cognitive dysfunction, such as difficulty concentrating
- difficulty sleeping
- depression
- stiff joints
- fatigue
Since these symptoms can also indicate other chronic pain, inflammatory, or autoimmune conditions, talk to a doctor if you think you may have fibromyalgia. They will examine you, ask about your symptoms, and run blood tests to rule out other conditions causing the problem.
Consider taking a fibromyalgia self-test before your doctor’s appointment. This test combines the widespread pain index (WPI) and the Symptom Severity Score (SSS) into one self-assessment and gives you a score. Based on that score, your doctor can determine the likelihood that you do or do not have fibromyalgia.
Summary
Scientists and researchers still do not understand the exact cause of fibromyalgia. But scientists are working to assemble the pieces and determine a root cause for the condition.
A mixture of factors lead to the development of fibromyalgia. Genetics may play a role, but, none of the gene variations identified currently explain fibromyalgia development and symptoms completely. [1]
More studies are needed to identify a definitive cause for fibromyalgia. But with any luck, identifying the cause may lead to more effective treatment.
Medically reviewed by Dr. Andrea Chadwick, MD, MSc, FASA
Sources
- Park DJ, Lee SS. New insights into the genetics of fibromyalgia. Korean J Intern Med. 2017;32(6):984-995.
- D’Agnelli S, Arendt-Nielsen L, Gerra MC, et al. Fibromyalgia: Genetics and epigenetics insights may provide the basis for the development of diagnostic biomarkers. Mol Pain. 2018;15:1744806918819944.
- Harte SE, Harris RE, Clauw DJ. The neurobiology of sensitization. Journal of Applied Behavioral Research. 2018; 10.1111/jabr.12137
- Ji RR, Nackley A, Huh Y, Terrando N, Maixner W. Neuroinflammation and central sensitization in chronic and widespread pain. Anesthesiology. 2018;129(2):343-366.
- Arnold LM, Fan J, Russell IJ, et al. The fibromyalgia family study: a genome-scan linkage study. Arthritis Rheum. 2013;65(4):1122-1128.
- Kendler KS, Rosmalen JGM, Ohlsson H, Sundquist J, Sundquist K. A distinctive profile of family genetic risk scores in a Swedish national sample of cases of fibromyalgia, irritable bowel syndrome, and chronic fatigue syndrome compared to rheumatoid arthritis and major depression. Psychological Medicine. 2023;53(9):3879-3886.
- Kojima I, Nagasawa M. Trpv2. Handb Exp Pharmacol. 2014;222:247-272.
- Santoni G, Farfariello V, Liberati S, et al. The role of transient receptor potential vanilloid type-2 ion channels in innate and adaptive immune responses. Front Immunol. 2013;4:34.
- van Tilburg MAL, Parisien M, Boles RG, et al. A genetic polymorphism that is associated with mitochondrial energy metabolism increases risk of fibromyalgia. PAIN. 2020;161(12):2860.
- Wolf F, Clauw DJ, Fitzcharles M, Goldenberg DL, Katz RS, Mease P, Russell AS, Russel IJ, Winfield JB, Yunus MB. The American College of Rheumatology Preliminary Diagnostic Criteria for Fibromyalgia and Measurement of Symptom Severity. Arthritis Care and Research (original article). 2010.
- Wolfe F, Clauw DJ, Fitzcharles M, Goldenberg DL, Hauser W, Katz RL, Mease PJ, Russel AS, Russel IJ, Walitt B. 2016 Revisions to the 2010/2011 fibromyalgia diagnostic criteria. Seminars in Arthritis and Rheumatism. 2016;46(3):319-329.
