Breast Implant Illness: Genetics and Underlying Causes

Are you dealing with odd, seemingly disconnected symptoms that started after getting breast implants? It is estimated that 400,000 breast implants are performed in the United States every year, and some women report a constellation of different health issues after implants.[ref]

This article explores the research on breast implant illness — from whether or not it is real to research on underlying causes. Included is information on genetic variants that research links to increased susceptibility to BII and possible solutions. Members will see their genotype report below, plus additional solutions in the Lifehacks section. Join today

What is Breast Implant Illness (BII)?

Breast implants have been around since the 1960s, and for decades, women have reported symptoms that start sometime after getting breast implants.

In the 1990s, the FDA mandated a moratorium on breast implants to investigate their safety more thoroughly. The halt on implants was based on case reports of women diagnosed with T-cell lymphoma and other illnesses after their silicone implants. A flurry of studies in the early 2000s showed that there wasn’t a statistical increase in cancer risk, and the FDA reapproved the use of breast implants in 2006.[ref]

While a link to increased T-cell lymphoma wasn’t found by the FDA studies, women still continue to report a cluster of symptoms after breast implants.

Symptoms reported with breast implant illness include:[ref][ref]

  • fatigue, constant tiredness
  • muscle pain, morning stiffness
  • joint pain
  • dry mouth, dry eyes, dry skin
  • brain fog
  • fever
  • peripheral neurological symptoms
  • development of autoimmune diseases

For some, these symptoms may begin soon after implantation, but for others, the symptoms can appear years later.

As you can see, these symptoms overlap with other chronic conditions, including several autoimmune diseases. Identifying the root cause of your fatigue, aches, and cognitive issues can be challenging.

Doctors may try to first rule out other diseases with similar symptoms, such as lupus, rheumatoid arthritis, Sjogren’s syndrome, fibromyalgia, or chronic Lyme disease.

Explantation as proof that BII is a real illness

Breast implant illness isn’t recognized by all doctors as a diagnosis. The symptoms are vague and not always directly tied to the area of the implant, leading to many in the medical community questioning the validity of the disease. Silicone has long been considered an inert substance to put into the body.

If breast implants are causing illness, it makes sense that removing the implant would make the symptoms better…

Recent research shows this is true. Taking out breast implants (explantation) improves symptoms for many women with breast implant illness.

  • In one study, 94% of women with BII symptoms had improvement. Notably, the symptom improvement seems to last. At six months, the women had a 68% reduction in the number of symptoms. Fatigue, brain fog, joint pain, and muscle pain showed the most improvement.[ref]
  • Another study found that 67% of women with BII had symptom improvement after explantation.[ref]

Explantation may not be an option for everyone, though. It is a medical surgery procedure that is not without risk and financial cost. Additionally, the remaining breast tissue may need additional cosmetic procedures. Thus, explantation may not be a realistic option for everyone.

Possible causes of Breast Implant Illness

While symptoms from breast implants have been reported for decades, research on breast implant illness has increased over the past few years.

Forums and social media groups have raised awareness of the connection of the symptoms to the implants. Momentum has grown to find an underlying cause, and quite a bit of research has been done recently.

The following themes are found in research on BII:

  1. it is psychosomatic
  2. silicone leaching or rupture
  3. bacterial biofilm
  4. autoimmune disease
  5. a subset of ASIA syndrome

1) Psychosomatic (Is it all in your head?):

The idea that breast implant illness is psychosomatic has been proposed and studied by several researchers. For example, some researchers call breast implant illness a “model of psychological illness”. It was based on a mailed survey that showed women with breast implants having higher anxiety scores than female undergraduate students.[ref]

In another research article in the Annals of the Rheumatic Diseases (BMJ), the author likened the symptoms that women have attributed to breast implants to “similar symptoms in fibromyalgia, chronic fatigue, and other contexts have been considered to be stress or behaviourally mediated, and a number of promising behavioral interventions have been developed.” It goes on to say that “In the case of implants, a mass somatisation model may also help to discern the potential effects of litigation and other social influences.” In other words, it’s all in your head.[ref]

A 2022 review article explained that breast implant illness is most likely psychosomatic and a social media phenomenon.[ref] Considering that the research on the symptoms from breast implants dates back decades before social media or the internet, I question their logic on this one.

Just as a quick aside: I’ve often read the argument that people with anxiety are more likely to report weird symptoms — from long Covid, fibromyalgia, and chronic fatigue to BII. It immediately makes some people think that an illness or symptom is likely ‘all in the head’. (To be honest, I have likely thought that way in the past.) However, research now clearly shows that elevated inflammatory cytokines can cause anxiety and/or depression. Thus, in people with chronic illness who have elevated inflammation, you should expect a higher number to also notice anxiety or other brain-related symptoms. In other words, instead of anxiety causing them to make up symptoms, the physiological effects of inflammation in the body are causing cognitive changes.

Moving on to the bulk of the scientific research on BII…

2) Silicone Leaching or Rupture:

Quite a bit of research shows that silicone can bleed out into the body from implants. For example, silicone particles are found in the lymph nodes, spleen, and liver after a rupture. However, silicone is supposed to be a biologically inert material and theoretically shouldn’t cause a problem in the body.[ref]

In women without implant ruptures, almost all (99%) had silicone particles present in various tissues. According to the study’s authors, this indicates that silicone gel inserts give off a little bit of silicone that can then migrate throughout the body. The study included both older type implants as well as newer cohesive gel implants. Silicone was found in the lymph nodes and the tissue around the implant.[ref]

While biologically inert, silicones can trigger an immune response. Higher levels of silicone in tissues correlate to increased macrophages in the tissue. Macrophages are a type of white blood cell that migrate to sites of inflammation to engulf foreign substances.[ref]

Terminology time out: Silicone is a polymer made of silicon (an element) combined with other substances to make it flexible and rubber-like. There are lots of different types of silicones. Silica, on the other hand, is silicon dioxide, which occurs in quartz and sand. Silica can be used to manufacture silicone. Silicosis is the term applied to a disease usually caused by inhaling silica as small dust particles.

In addition to breast implants, silicone is used in medical devices and coating prefilled syringes. The coating then causes silicone particles to be injected when prefilled syringes are used. Additionally, silicone is used in dermal fillers. Granulomas, which are small areas of pus or inflammation, are a well-documented response to injected silicone and can occur up to 10 to 15 years after injection.[ref][ref]

If silicone is totally inert, why would the body react to it? One theory is that silicone causes a mechanical cell response due to the stiff interface encountered by bodily fluids. Even viscous gel silicones have a surface rigidity different from normal cells and can activate macrophages.[ref]

Other research indicates that the ‘gel bleed’ from silicone breast implants may not be as “inert” as originally thought. Microdroplets of the methylsiloxanes, one of the smallest silicone particles found in breast implants, cause cell death in lab testing.[ref]

The size and amount of particulate debris released from breast implants depend on the type of implant surface and the manufacturer. Of note, all implants give off particulate materials.[ref]

Additionally, research on silicone dermal fillers showed that they cause IL-6, a pro-inflammatory cytokine, to be elevated. The study did show that CD4+ T cells were not activated, indicating inflammatory cytokines but not antibodies.[ref]

Silicone absorbs contaminants…

In a study looking at persistent chemical toxicants (things like pesticides and other pollutants), researchers found that breast implants act as passive samplers, absorbing contaminants from the body.

It turns out silicone breast implants are much like the silicone rubbers used in environmental sampling devices to trap pollutants.

The researchers found fourteen compounds in the eight extracted breast implants – fragrances, dyes, pesticides, and flame retardants. They even found a metabolite of DDT, which is a pesticide that has been banned in the US since 1972 but still persists in the environment.[ref]

3) Bacterial Biofilm

One problem with any implant – whether breast, tooth, knee, screws, mesh or other implants – is a possibility of a bacterial biofilm forming on the implanted material.[ref][ref][ref]

When bacteria are in an environment that is not ideal, they can mass together and form a niche environment where they can colonize and proliferate. They form a ‘film’ by producing proteins and exopolysaccharides.[ref]

In the lab, researchers evaluated how biofilm forms on silicone. They found that multiple bacterial species can form biofilms on silicone, and this is exacerbated by collagen being available.[ref] While silicone isn’t a medium for bacterial growth, when the implants are inside the body, a matrix of proteins forms around them that can facilitate biofilm formation.[ref]

Breast implants that have been removed show positive results for bacteria. Staphylococcus was the most commonly associated bacteria.[ref][ref]

In a study involving 50 patients with BII, removed implants showed that 36% had a chronic infection. Propionibacterium acnes was the most prominent organism found.[ref]

Quick aside: Propionibacterium acnes is the bacteria that commonly causes acne on the skin. But it is also found in the spine of people having back surgery for disk degeneration pain. (Read more about it here.)

While it can be weird to think about, we humans are hosts to many microbes — from the gut microbiome to the mouth to the skin. As research gets better at detecting and isolating bacteria, even areas of the body that were thought to be sterile, such as the uterus, bladder, and breast tissue, all have bacteria present.

The question in my mind is whether the bacterial biofilm on breast implants causes symptoms of BII or is incidental. Researchers have investigated biofilm formation more extensively for other implants, such as knees and hips. Bacteria that form biofilms and survive also release extracellular DNA. It can be measured, and researchers have found increased eDNA in people with implants. Most commonly, the eDNA is from Staphylococcus species.[ref]

4) Fungal infection:

Another possible culprit in BII is fungal infection. A recent case study reported a Penicillium fungal species along with Propionibacterium acnes on the implant. The removed implants had “a visible white coating on the outside with turbid green fluid with small debris inside”. Of note here is that the patient also had pain in the breast area. A few other case studies also show fungal infections, but it seems to be uncommon.[ref][ref] A lab-based study showed that Aspergillus niger could multiply in saline-filled silicone implants, but Candida doesn’t live all that long.[ref] Another case study reported on Aspergillus species found both inside and outside an implant that had been inserted 18 months prior. This case study reported that the silicone implant is selectively permeable.[ref]

Again, from the case reports, it seems like fungal infections are uncommon, but I include them here in case the symptoms fit someone.

5) BII is an autoimmune disease

The symptoms of breast implant illness are systemic and varied, much like an autoimmune disease. Plus, the symptoms overlap a lot with autoimmune diseases such as rheumatoid arthritis, Sjogren’s syndrome, and lupus — all of which have systemic and varied symptoms.

A large study published in 2018 found that patients with silicone breast implants were at an increased relative risk of autoimmune diseases. Sjogren’s syndrome, systemic sclerosis, Raynaud’s, and sarcoidosis were the most common.[ref]

A study in Danish women with rheumatic disorders and breast implants found that the presence of antipolymer antibodies didn’t correlate with rheumatic symptoms.[ref]

A recent study published in Jun 2022 found that women with BII who reported cognitive issues were more likely to have autoantibodies against autonomic nervous system receptors (adrenergic, muscarinic, endothelin receptors). Another study by the same researchers looked at BII patients with palpitations, pain, depression, hearing loss, dry eyes, and dry mouth. The results showed they were more likely to have dysregulation of autoantibodies against a different type of autonomic nervous system receptors.[ref]

The question then is whether the breast implants trigger autoimmune diseases or if underlying autoimmune diseases are causing the symptoms that people associate with BII. Both could be true, and it is likely a question that may take a lot of testing to answer for an individual.

ASIA Syndrome: Overarching Category?

ASIA syndrome (autoimmune/inflammatory syndrome induced by adjuvants) is a term that comes up in research about breast implants. Essentially, ASIA is a more encompassing term that would also include other types of implanted materials as well, such as adjuvants in vaccines or chronic industrial exposure to silicone. Also included in ASIA syndrome are injected fillers, some of which may also contain silicone.[ref]

A case study explains a woman diagnosed with ASIA syndrome three years after implant. The patient chose not to have explantation and could control the symptoms with daily hydroxychloroquine to suppress her immune response.[ref]

A 2017 retrospective study examined whether breast implant patients diagnosed with ASIA syndrome had the same symptoms as those diagnosed with Silicone Implant Incompatibility Syndrome. The results showed that the symptoms reported by women after breast implants have remained the same for 30+ years, no matter which disease label is used.[ref]

Small fiber neuropathy in BII

Breast implant illness, also called silicone implant incompatibility syndrome, is also linked in several studies to small fiber neuropathy. The connection is thought to be autoantibodies against the G-protein coupled receptors in small nerves.[ref] One study of 500 patients with silicone breast implant symptoms found that 87% appeared to have a neuropathy.[ref]

Small fiber neuropathy is caused by damage to the tiny nerve fibers that carry information about pain, temperature, and touch. In addition to causing tingling and odd sensations in the periphery, small fiber neuropathy can also affect autonomic nervous system functions like heart rhythm, bladder function, and the gastrointestinal tract.

In addition to links to breast implant illness, small fiber neuropathy also occurs in RA, sarcoidosis, and other autoimmune diseases.


Breast Implant Illness Genotype Report

While several recent studies are looking at possible reasons for BII (biofilms, autoimmunity, silicone reactions), research studies have not been done to link genetic variants directly to breast implant illness. Articles by clinicians indicate that some doctors think that MTHFR, MTRR, and HLA genes are likely linked to an increased risk of breast implant illness. These suppositions are based on their observations of a limited number of patients rather than statistical research studies.

Autoimmune genes: The HLA family of serotypes is linked to many different autoimmune diseases. In 1995, a research study found that the HLA-DR53 family, which consists of several HLA types, increased susceptibility to breast implant illness. This family of HLA types cannot be determined from your genetic raw data file.

Does this mean that genetics has no impact on breast implant illness? Not at all. It simply means that the research hasn’t been done. Studies on silicone implant-induced immune responses have been done in rats. The researchers found that four autoimmune-related genes were likely involved in the response. These genes include Tlr6, Tlr2, Gata3, and Aif1. Hopefully, the researchers will take the next step in human genetics studies, but the animal studies paint the picture of a localized immune reaction after silicone implantation.

Instead of direct research, I’m going to include some genes strongly linked to related autoimmune diseases — and also address some of the speculative information I’ve seen in articles.

Autoimmune Links:

The following genes have been linked in peer-reviewed research studies to autoimmune diseases that overlap with breast implant illness.

This section is best viewed as a member so you can see your genetic data.

Members: Log in to see your data below.
Not a member? Join here. Membership lets you see your data right in each article and also gives you access to the member’s only information in the Lifehacks sections.

 Sjogren’s Syndrome:
Dry eyes and dry mouth are the two symptoms most commonly associated with this autoimmune disease, but patients may also have fatigue, pain, neuropathy, cough, and more. Read the in-depth article on Sjogren’s Syndrome

CTLA4:
The CTLA4 gene encodes a checkpoint in the immune system. CLTA-4 is active in the Treg cells, which keeps your immune system from attacking your cells. Variants that reduce CTLA4 function increase the risk of many different autoimmune diseases, including Sjogren’s syndrome and rheumatoid arthritis. Read the full CTLA4 article for more details.

PTPN22:
The PTPN22 gene also regulates the immune system by dampening T cells and B cell activation. It prevents these immune cells from being overactive and attacking your cells. Variants in the PTPN22 gene that decrease its function cause an increase in many different autoimmune diseases. Read the in-depth PTPN22 article for all the details.

Rheumatoid arthritis:
Another autoimmune disease that often overlaps with BII is rheumatoid arthritis. Genetic variants related to RA susceptibility are listed below. See the in-depth RA article for more information.

Small fiber neuropathy:
Because both peripheral nerve sensations and autonomic function are affected, small fiber neuropathy is seen in some BII patients. Read the in-depth article on small fiber neuropathy.

MTHFR and breast implant illness:

You can find several articles online about MTHFR genetic variants increasing the likelihood of BII.

However, no published research shows this connection. Instead, it seems to be conjecture by the clinicians writing the articles. It is easy to check your MTHFR variants (below). If you have the variant, you should read the in-depth MTHFR article and make sure you’re getting enough folate (through diet or methyl folate supplement). Getting sufficient folate is not likely to cure BII, but it is one basic step toward overall health.


Lifehacks for Breast Implant Illness:

Right now, there are a lot more questions than answers surrounding BII.

Talk with your doctor or plastic surgeon about your options and testing for specific autoimmune diseases.

Supporting a healthy immune response:

Diet and lifestyle factors play a role in many autoimmune diseases. Generally, a whole foods diet that avoids common immune system triggers is often recommended for autoimmune diseases. Simply switching to whole foods cooked from scratch helps avoid many of the possible triggers found in highly processed foods. Look into Autoimmune Protocol if you need diet help.

If your breast implant symptoms started after the COVID-19 vaccination, you are not alone. A journal letter explained that similar to dermal facial filler reactions, the practitioners saw many potential reactions associated with breast implants one to three days post-vaccination. The authors note that the reactions are a rare side effect and are not seen in all women with breast implants.[ref] Another journal article details a number of published case studies on breast implant side effects from vaccination.[ref]

Supplements for breast implant illness:

Vitamin D: The risk of autoantibodies in BII patients is significantly increased in vitamin D deficient patients. The small study found a 3-fold increase in risk with vitamin d deficiency or insufficiency.[ref]

Vitamin D related genes:

Specialized Pro-resolving Mediators:
Formed from DHA and EPA (fish oil), specialized pro-resolving mediators are a class of lipids that cells produce to resolve and heal inflammation. Several new research articles point to the vital role of specialized pro-resolving mediators in healing neuropathies.[ref][ref]

I highly recommend reading my article on pro-resolving mediators, and looking at how much DHA and EPA you get in your diet regularly.

Methyl folate:
If you have MTHFR variants, methyl folate is a supplement to consider. The RDA for folate is 400 mcg/day, so if you aren’t getting that via diet, you may want to consider a methyl folate supplement. Keep an eye on the amount of methyl folate in the supplement, though. Many supplements contain quite a bit more than the RDA, and some people experience side effects at higher doses, such as headaches or mood changes.

Microbiome:
While it may seem odd to think about, breasts have their own microbiome — resident microbes get passed on to babies through breast milk. Researchers have found that the microbiome in the breast and the gut microbiome are different in patients with breast cancer.[ref] Animal research shows that dysbiosis in the gut microbiome can have systemic effects.[ref][ref]

Many autoimmune diseases are also linked to gut microbiome dysbiosis. One theory is that a ‘leaky gut’ or a loosening of the tight junctions in the intestinal epithelial cells may cause aberrant immune system activation.[ref][ref]

Probiotics have been studied in clinical trials related to autoimmune diseases:

  • L. casei 01 supplementation improved symptoms and inflammatory status in patients with rheumatoid arthritis.[ref]
  • L. rhamnosus GG helped alleviate symptoms in patients with autoimmune polyendocrine syndrome type 1, which is a multiorgan autoimmune disease.[ref]
  • Animal studies show that Lactobacillus probiotics may benefit lupus by inducing certain immune system molecules.[ref]

Fungal infection:
Mycotoxins are the metabolites released by certain types of mold and fungi. It may be beneficial to check to see if you are genetically more susceptible to certain mycotoxins.

Mycotoxin-related genes (full article here):


Related Articles and Topics:

Detoxification Genes Overview
Learn how phase I and phase II detoxification works and how your genes impact these enzymes.

Small fiber neuropathy:
Damage to the small nerve fibers can cause a variety of symptoms, from peripheral tingling to autonomic nervous system dysfunction.

Vitamin D, Genes, and Your Immune System
Vitamin D is more than just a ‘vitamin’. It is actually a hormone essential to many processes in your body – including your immune system. Learn how vitamin D helps the immune response to coronavirus, flu, and other respiratory viruses.

Gut Genes
This article digs into how the genetic variants you inherited from mom and dad influence the bacteria that can reside within you and how dietary changes can make a difference.

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About the Author:
Debbie Moon is the founder of Genetic Lifehacks. Fascinated by the connections between genes, diet, and health, her goal is to help you understand how to apply genetics to your diet and lifestyle decisions. Debbie has a BS in engineering and also an MSc in biological sciences from Clemson University. Debbie combines an engineering mindset with a biological systems approach to help you understand how genetic differences impact your optimal health.