Parkinson’s Disease

What Is Parkinson’s Disease?

Parkinson’s disease is a progressive neurological disorder that affects your body’s ability to produce dopamine, a chemical found in your brain that helps you initiate and control your movements. This causes symptoms like uncontrollable shaking in your limbs (known as a tremor), slow movement, a rigid, stiff feeling in your body, unsteady gait and posture, as well as symptoms unrelated to movements like loss of smell, constipation, difficulty sleeping, fatigue, cognitive challenges, and blood pressure issues. Parkinson’s most frequently develops in people over age 50, but can also appear in younger individuals, too.

Thin bar with multiple colors indicating a break in the page.© Provided by The Mighty Thin bar with multiple colors indicating a break in the page.

Medically reviewed by Kristin Andruska, M.D., Medical Director of the Parkinson’s Institute and Clinical Center

What Causes Parkinson’s Disease? Who Gets Parkinson’s Disease? Why Do People Get Parkinson’s Disease? Is Parkinson’s Disease Hereditary? Celebrities With Parkinson’s Disease Long-Term Outlook of Parkinson’s Disease | Parkinson’s Disease Statistics

You might feel stiff, like it’s hard to move your muscles, and maybe you have uncontrollable shaking in one or more of your limbs or fingers. You might also feel fatigued and have difficulty feeling motivated to get up. Everyday tasks like brushing your teeth, putting on your clothes, cooking and driving a car might be a struggle due to the stiffness and slowness of your muscles. Perhaps family members have noticed you don’t swing one of your arms when you walk.

Feeling unsteady when you walk and feeling like you can’t move as quickly as you want could be everyday occurrences along with other challenges like constipation, chronic pain, difficulty sleeping and concentrating, a weak sense of smell, having a soft voice and a bent-over posture. Taking certain medications helps wake your muscles up and gets you moving with more ease and less sluggishness. Without that help, though (and, sometimes despite taking medications), moving the way you used to is challenging, as you constantly feel a sense of slowness, stiffness and/or shaking (you might experience some or all of these symptoms). If this describes your experience, you may be living with Parkinson’s disease.

When people think of Parkinson’s disease, the first (and often only) thing that comes to mind is its most well-known symptom: a tremor in your hand. But as anyone who has Parkinson’s disease knows, there’s so much more to the condition than that. This is a condition that can cause both invisible and visible symptoms, physical and emotional impacts. It affects each person in a unique way. Two people can have two completely different experiences — and both are completely valid.Thin bar with multiple colors indicating a break in the page.© Provided by The Mighty Thin bar with multiple colors indicating a break in the page.

What Causes Parkinson’s Disease?

Parkinson’s disease occurs when there isn’t enough dopamine produced in the part of the brain called the substantia nigra, which helps you initiate muscle movement. The substantia nigra part of your midbrain normally produces dopamine, a chemical called a neurotransmitter that signals other brain cells to start movement. But in Parkinson’s disease, the brain cells (aka neurons) that produce dopamine degenerate and die, meaning less and less dopamine is produced. Without dopamine in the substantia nigra, you have a harder time initiating and controlling your movements.

Another key feature of Parkinson’s disease is when a protein found in the brain called alpha-synuclein (abbreviated a-synuclein) clumps together with other proteins to form Lewy bodies. Lewy bodies are toxic, and can form in many areas of the brain, including the substantia nigra and cerebral cortex (the “thinking” part of the brain). Lewy bodies disrupt the functioning of these areas of the brain — neurons can’t work properly and send the signals they are supposed to. The neurons eventually die, making it impossible for them to carry out their intended functions.25

As a result, Parkinson’s disease is characterized by three hallmark movement, or motor, symptoms:Tremor, or uncontrolled shaking of typically a hand, leg, foot, head, chin, lips, jaw or tongue while the limb is at rest  Bradykinesia, or slowness of movement Rigidity, or stiffness in the body

Other common motor symptoms include an unsteady gait, balance problems, soft voice, small handwriting, stooped posture, “freezing” of feet and lower limbs while walking, and taking very small steps.

Parkinson’s disease also causes symptoms unrelated to movement. Dopamine-producing neurons are found in parts of the brain besides the substantia nigra such as areas that control your mood and sense of motivation to do things. Lewy bodies can also be found in parts of the brain that affect things like your sense of smell, thinking, constipation, sleep, and depression, which causes symptoms in these areas, too.

Non-motor symptoms can be just as challenging to live with as motor symptoms, sometimes more. These symptoms often show up months or even years before the motor symptoms, suggesting perhaps the disease can begin in parts of the brain outside the dopamine-producing neurons of the substantia nigra, cause non-motor symptoms and gradually progress to include the motor symptoms as well.28

Some of the non-motor symptoms you experience can include:Loss of smell Constipation Sexual dysfunction Anxiety Depression Apathy, or the lack of desire to move or do things Sleep problems Cognitive problems Fatigue Sweating Autonomic dysfunction, or trouble with automatic body functions like blood pressure fluctuations, dizziness or feeling faint

Parkinson’s disease is degenerative, which means over time, symptoms get worse. There is no cure. However, it is not considered a terminal illness. There are a number of treatments that can help you manage your symptoms, including:Medication Exercise Physical, occupational and speech therapy Surgery

Parkinson’s disease is named after James Parkinson, an English scientist who wrote the first paper describing its symptoms. His paper, “An Essay on the Shaking Palsy,” was published in 1817.24Thin bar with multiple colors indicating a break in the page.© Provided by The Mighty Thin bar with multiple colors indicating a break in the page.

Who Gets Parkinson’s Disease?

An estimated 6.1 million people worldwide had Parkinson’s disease in 2016, up from 2.5 million people in 1990. Between 2005 to 2030, the number of people with Parkinson’s disease is expected to double.9 This is because people, in general, are living longer, and Parkinson’s becomes more common as you get older.

Age of Onset

Age is the biggest risk factor for Parkinson’s disease. It affects about 1% of the population over age 60, and 5% over age 85.26 Your risk of developing Parkinson’s increases with each decade. However, anywhere from 5-20% (research is inconsistent) of cases are considered early-onset, which is defined as presenting with symptoms before age 50.36

We don’t know for sure why Parkinson’s becomes more common with age but research suggests some people experience a decline over time in the processes required for the functioning of the substantia nigra. As some people age, they become less able to produce dopamine, neurons become less effective and toxic Lewy bodies develop that cause neurons to die. When all these factors combine, some people experience the symptoms of Parkinson’s disease.26

Gender Differences

Parkinson’s is more common in men than women, with a ratio of about 1.5 men to every 1 woman. The ratio appears to increase with age.17 Why more men are diagnosed with Parkinson’s than women is not completely clear. There may be a relationship between dopamine and estrogen, the female sex hormone. Some research suggests estrogen might help protect against the loss of dopamine, which could explain why women are less likely to have Parkinson’s and also why Parkinson’s symptoms are sometimes worse for women after menopause, when estrogen levels decrease.32 There is also evidence that women with Parkinson’s are less likely than men to seek out a specialist for care, which means they may be underrepresented in research and not receive the same quality of care.35

Another theory is male-dominated industries are associated with environmental factors that may increase Parkinson’s risk — for example, being exposed to pesticides and heavy metals (such as manganese exposure from welding, iron, steel and mining2). It also could be that women are simply not diagnosed with Parkinson’s as readily as men are. Women may experience more non-motor symptoms, which can be harder to diagnose as Parkinson’s than motor symptoms because they still aren’t as recognized.10

Related: These stories shares women’s perspectives on living with Parkinson’s.

Is There Anything Good About Living With Parkinson’s? These Women Say Yes!Choosing Parenthood With Juvenile Parkinson’s DiseaseThin bar with multiple colors indicating a break in the page.© Provided by The Mighty Thin bar with multiple colors indicating a break in the page.

Why Do People Get Parkinson’s Disease?

The first thing you might ask after getting the diagnosis is why did I get Parkinson’s disease? Scientists don’t know for sure what causes some people to develop Parkinson’s while others don’t. If you ask your doctor why you have Parkinson’s, they will likely not be able to give you a definitive answer. But scientists have pinpointed a couple of factors that may increase your risk of Parkinson’s: genetics and environmental factors.

Is Parkinson’s Disease Hereditary?

Historically, Parkinson’s was not thought of as a hereditary or genetic condition. Newer research, however, indicates Parkinson’s disease can run in families, though it is rare. These cases are called familial Parkinson’s disease and account for about 15% of all Parkinson’s cases.23 Scientists have identified several genes that can cause or increase your risk of Parkinson’s. It’s possible for mutations or changes in these genes to be passed down among family members. In very rare cases, they can appear at random, causing Parkinson’s disease in someone who did not inherit the gene from a family member and has no family history of the condition.

Genetic Factors 

Several genes increase your risk of developing Parkinson’s. Experts believe a gene called LRRK2 is linked to Parkinson’s because studies have found several types of mutations in LRRK2 that people with Parkinson’s disease have in common. It may explain at least 5% of familial Parkinson’s disease cases and 1-2% of “sporadic,” or non-familial, Parkinson’s cases.27 The LRRK2 gene makes a protein called LRRK2 (also called dardarin), found in the brain, which is believed to be involved in several functions, including regulating other proteins’ abilities to interact with each other, transmit signals and build the framework of other cells. We don’t know exactly why LRRK2 mutations lead to Parkinson’s symptoms specifically, but we know that mutations to LRRK2 result in the protein being hyperactive, which disrupts how effectively it can work and can cause brain cells to die.27

One particular type of LRRK2 mutation, called G2019S, appears to be particularly concentrated in certain ethnic groups. It accounts for:13.3% of sporadic and 29.7% of familial Parkinson’s disease among Ashkenazi Jews 40.8% of sporadic and 37% of familial Parkinson’s disease among North African Arabs12

A gene called GBA is also associated with Parkinson’s — an estimated 10% of people with Parkinson’s have a GBA mutation.13 The GBA gene makes an enzyme — a type of protein that helps brain chemicals communicate more efficiently — that breaks down toxic substances in neurons, digests bacteria and breaks down worn-out cells. Scientists don’t know the exact connection to Parkinson’s, but in theory, if there is a mutation on GBA, toxic substances in neurons may not be able to break down, which could kill dopamine-producing neurons.8

Another gene, called PRKN, is associated with developing early-onset Parkinson’s in particular. The PRKN gene is responsible for the production of the parkin protein, which is believed to help get rid of damaged cell parts, like mitochondria — the part of the cell that produces energy.22 PRKN gene changes may allow a buildup of toxic proteins and damaged mitochondria, which causes the death of dopamine-producing cells.31

Also, damaged mitochondria in dopamine-producing cells could prevent them from working properly since they can’t produce energy.21 Some studies have found that PRKN mutations are found in 40-50% of early-onset familial Parkinson’s cases and 1-20% of sporadic Parkinson’s cases.20 Hispanic individuals are more likely than non-Hispanic individuals to carry this gene.1

Mutations in the SNCA gene are also believed to increase your risk of developing Parkinson’s disease since SNCA produces a-synuclein, the protein that builds up in people with Parkinson’s.20 A-synuclein clumps are also called Lewy bodies, and the presence of Lewy bodies in the brain is a hallmark sign of Parkinson’s disease. Lewy bodies in the brain can disrupt the functioning of neurons, leading to Parkinson’s symptoms.

Environmental Factors

There is some evidence that certain external factors could increase your risk of developing Parkinson’s disease. One of these factors is exposure to pesticides. One study found people exposed to pesticides rotenone and paraquat were 2.5 times more likely to develop Parkinson’s.33

Rotenone is a chemical used mostly by organic farmers to kill insects (it’s considered organic because it is found naturally in some plants), and it is also used in some household insecticide products; for example, products with the brand name Bonide. It’s also used by fishermen to kill non-native fish species.29 Paraquat is used as a commercial herbicide, to kill weeds and grass. It can only be used by people who have a license to do so.3

Genetics may influence the impact pesticide exposure has on your Parkinson’s risk.11 For example, if you have a gene that does not produce the enzyme supposed to protect against the toxic effects of the pesticide paraquat, your body will be more sensitive to paraquat exposure, leading to a higher risk of Parkinson’s disease.11 Pesticides may also explain why Parkinson’s is more common among men since pesticides are used more often in male-dominated farming industries.10

Another potential environmental factor is smoking. Studies show smokers have a lower incidence of Parkinson’s than non-smokers, possibly because nicotine protects dopamine neurons.19 Unfortunately, this may not be a useful protective factor, since smoking can lead to serious health problems like cancer and heart disease. Caffeine may also have a protective effect against Parkinson’s disease.14

Head injuries may also increase your risk of Parkinson’s. Research suggests head trauma is associated with the formation of abnormal clumps of the protein a-synuclein, called Lewy bodies. Lewy bodies are toxic to brain cells and are found in the brains of people with Parkinson’s disease4 (however, they are also found in people with other neurodegenerative diseases and in people with normal brains). Other theories are that head trauma simply “uncovers” underlying Parkinson’s disease that would have surfaced anyway, or that trauma damages dopamine-producing brain cells.5 One recent study of military veterans found having a mild traumatic brain injury increased their risk of developing Parkinson’s by 56%.7Thin bar with multiple colors indicating a break in the page.© Provided by The Mighty Thin bar with multiple colors indicating a break in the page.

Celebrities With Parkinson’s Disease

When you’re living with Parkinson’s, it can be comforting to know of other people who are going through the same diagnosis you are. Celebrities who have Parkinson’s are also often active in advocacy work, which may offer great opportunities for you and your loved ones to get involved. In addition, celebrities tend to increase awareness of Parkinson’s disease, helping the general public, who may know very little about it, learn what the condition is. A few notable people with Parkinson’s disease are:

Michael J. Fox

Actor Michael J. Fox, best known for his appearances in “Back to the Future,” “Family Ties,” “Spin City” and “The Good Wife,” was diagnosed with Parkinson’s disease in 1991 at age 29. He publicly announced his diagnosis in 1998, and soon after founded the Michael J. Fox Foundation, a nonprofit dedicated to funding Parkinson’s research.16

Alan Alda

Alan Alda is an actor best known for his appearances in “M*A*S*H,” “The West Wing” and in movies like “The Aviator” and “Bridge of Spies.” In 2018 at age 82, Alda revealed he had been diagnosed with Parkinson’s disease three-and-a-half years earlier, after he noticed he had begun to act out dreams, a common indicator of Parkinson’s disease.18

Muhammed Ali

Boxer Muhammed Ali was diagnosed with Parkinson’s in 1984 at age 42. He became an advocate for Parkinson’s research and even founded an annual Celebrity Fight Night to raise money, along with the Muhammed Ali Parkinson Center in Phoenix, Arizona.15 He died in 2016 at age 74 of sepsis, which is not typically linked with Parkinson’s but could have been exacerbated by his physical condition.34

Rev. Jesse Jackson

Civil rights activist Rev. Jesse Jackson announced he was diagnosed with Parkinson’s in 2016 at age 76. At the time of his diagnosis, he said he and his family had begun noticing “changes” three years earlier, and said he intended to make lifestyle changes and dedicate himself to physical therapy.30 His father also had Parkinson’s disease.

Neil Diamond

Neil Diamond, best known for songs like “Sweet Caroline” and “America,” revealed his Parkinson’s diagnosis in 2018 at age 76. He stopped touring but says he hopes to continue performing. When he announced his diagnosis, he said he is feeling good, staying active and taking his medications. He said he is feeling “very positive” about it and wants to keep the music coming.6

Related: Discover more celebrities who live with Parkinson’s.

9 Celebrities Who’ve Been Diagnosed With Parkinson’s DiseaseBBC Correspondent Shares Diagnosis After Viewers Notice Symptoms During BroadcastThin bar with multiple colors indicating a break in the page.© Provided by The Mighty Thin bar with multiple colors indicating a break in the page.

Long-Term Outlook of Parkinson’s Disease

The long-term outlook of Parkinson’s has improved since James Parkinson’s essay was published. From a medication standpoint, there are several drugs you can try, including one considered the gold standard since the 1960s. These drugs can improve your motor symptoms. Deep brain stimulation surgery is also an effective treatment option for motor symptoms.

Doctors are also becoming more aware of Parkinson’s non-motor symptoms and can work with you to find appropriate medications and treatments to manage these symptoms. Other types of treatments, most importantly exercise, can also help lessen your motor symptoms.

Parkinson’s disease is progressive, so symptoms get worse over time. However, the rate of progression varies significantly among people with Parkinson’s, so it’s difficult for any guide such as this one to predict how quickly you will progress and whether you will need mobility devices or caregivers. But the rate of progression for a single person tends to remain stable and predictable throughout your life, so your own doctor may be able to give you some insight.

Still, Parkinson’s is not considered a terminal illness. Rather, there are a few symptoms that can lead to life-threatening complications like pneumonia, loss of balance that can lead to serious falls, and Parkinson’s dementia. Rather than try to predict how quickly you will progress and worry about the future, it’s more productive to focus on managing your symptoms and lifestyle as well as you can right now.

Related: These stories share more about what it’s like living with Parkinson’s disease.What You Can’t Always See About Living With Parkinson’s Disease Michael J. Fox Reveals What’s So Difficult About Having ‘False Hope’ With Chronic Illness 12 Things You Don’t Understand About Parkinson’s Unless You Have It

Thin bar with multiple colors indicating a break in the page.© Provided by The Mighty Thin bar with multiple colors indicating a break in the page.

Parkinson’s Disease Statistics

Check out these facts and figures for a quick look at the scope, causes and demographics of Parkinson’s disease.The average age at diagnosis is 60 years old.16 About 6.1 million people worldwide are diagnosed with Parkinson’s disease.9 About 1 million people in the United States have Parkinson’s disease.9 15% of Parkinson’s cases are caused by genetics.23 The ratio of men with Parkinson’s to women with Parkinson’s is 1.5 to 1. An estimated 5-20% of Parkinson’s cases are considered early-onset, which is when symptoms present at age 50 or younger.23Thin bar with multiple colors indicating a break in the page.© Provided by The Mighty Thin bar with multiple colors indicating a break in the page.

Diabetic Neuropathy Link Share


Diabetic neuropathy is a type of nerve damage that can occur if you have diabetes. High blood sugar (glucose) can injure nerves throughout your body. Diabetic neuropathy most often damages nerves in your legs and feet.

Depending on the affected nerves, symptoms of diabetic neuropathy can range from pain and numbness in your legs and feet to problems with your digestive system, urinary tract, blood vessels and heart. Some people have mild symptoms. But for others, diabetic neuropathy can be quite painful and disabling.

Poem by MwsR(me)

My Disease by MwsR

It hurts to have you in my life
Each reminder pricks me like a knife.
I struggle to keep you at “bay”
But you just won’t go away.

Walking seems to clear my head
While you try to keep me in bed.
Food I take in
Keeps me, prisoner, again.

Wishing you weren’t here
Want to take away the worrisome fear.
Like an old friend that I have talked to
You remind me of what I should do.

To say my life would be different without you
It is exactly the truth.
You came into my life when health wasn’t important to me
Taught me a lot, you see.

The diabetes you aren’t my friend
You will, however, be with me till the end.
So I think I’ll try to be
The one I can be with this disease.

Don’t let fear rule or dictate your life.
Live it with all you’ve been given, even amid the strife.
After all, you came first before the Diabetes,
You don’t need to make a peace treaty.

Fight to live!
Take the time to give!
Share your knowledge and experience,
To those who search for a difference.

Paleo Diet~Ooooh!

Risks for heart disease, study implies…

ANI | Aug 8, 2019

People who follow paleo diet

 were found to have twice the amount of a key blood biomarker that is linked closely to heart diseases, suggests a study.

The study published in the ‘European Journal of Nutrition’ examined the impact of the diet on gut bacteria.

Researchers compared 44 people on the diet with 47 following a traditional Australian diet. They measured the amount of trimethylamine-n-oxide (TMAO) in participants’ blood. High levels of TMAO, an organic compound produced in the gut, are associated with an increased risk of heart disease.

The controversial Paleo (or ‘caveman’) diet advocates eating meat, vegetables, nuts and limited fruit, and excludes grains, legumes, dairy, salt, refined sugar and processed oils.

Dr Angela Genoni, the lead researcher said that with the diet’s growing popularity, it was important to understand the impact it could have on overall health.

“Many Paleo diet proponents claim the diet is beneficial to gut health, but this research suggests that when it comes to the production of TMAO in the gut, the Paleo diet could be having an adverse impact in terms of heart health,” she said.

“We also found that populations of beneficial bacterial species were lower in the Paleolithic groups, associated with the reduced carbohydrate intake, which may have consequences for other chronic diseases over the long term.”

She said the reason TMAO was so elevated in people on the Paleo diet appeared to be the lack of whole grains in their diet.

“We found the lack of whole grains were associated with TMAO levels, which may provide a link between the reduced risks of cardiovascular disease we see in populations with high intakes of whole grains,” she said.

The researchers also found higher concentrations of the bacteria that produce TMAO in the Paleo group.

“The Paleo diet excludes all grains and we know that whole grains are a fantastic source of resistant starch and many other fermentable fibres that are vital to the health of your gut microbiome,” Dr Genoni said.

“Because TMAO is produced in the gut, a lack of whole grains might change the populations of bacteria enough to enable higher production of this compound.

“Additionally, the Paleo diet includes greater servings per day of red meat, which provides the precursor compounds to produce TMAO, and Paleo followers consumed twice the recommended level of saturated fats, which is cause for concern,” she said.

Signs That Could Indicate Heart Disease/Information Share

1. Creased earlobes

One such external indicator is diagonal creases on the earlobes — known as Frank’s sign, named after Sanders Frank, an American doctor who first described the sign. Studies have shown that there is an association with the visible external crease on the earlobe and increased risk of atherosclerosis, a disease where plaque builds up inside your arteries.

Over 40 studies have demonstrated an association between this feature of the ear and an increased risk of atherosclerosis. It is not clear what the cause of the association is, but some have postulated that it is to do with a shared embryological origin. Most recently, it has been seen that these creases are also implicated in cerebrovascular disease — disease of the blood vessels in the brain.

2. Fatty bumps

Another external indicator of heart issues is yellow, fatty bumps — known clinically as “xanthomas” — that can appear on the elbows, knees, buttocks or eyelids. The bumps themselves are harmless, but they can be a sign of bigger problems.

close up of arcus senilis during ophthalmic examination. © ARZTSAMUI/Shutterstock close up of arcus senilis during ophthalmic examination.

Xanthomas are most commonly seen in people with a genetic disease called familial hypercholesterolemia. People with this condition have exceptionally high levels of low-density lipoprotein cholesterol — so-called “bad cholesterol”. The levels of this cholesterol are so high they become deposited in the skin. Unfortunately, these fatty deposits are also laid down in arteries that supply the heart.

The mechanism that causes these fatty deposits in tissues is understood and it holds an iconic place in medicine as it led to the development of one of the blockbuster group of drugs that reduce cholesterol: statins.

3. Clubbed fingernails

A phenomenon known as digital clubbing may also be a sign that all is not well with your heart. This is where the fingernails change shape, becoming thicker and wider, due to more tissue being produced. The change is usually painless and happens on both hands.

The reason this change indicates heart issues is because oxygenated blood is not reaching the fingers properly and so the cells produce a “factor” that promotes growth to try and rectify the issue.

Clubbing of the fingers is the oldest known medical symptom. It was first described by Hippocrates in the fifth-century BC. This is why clubbed fingers are sometimes known as Hippocratic fingers.

4. Halo around the iris

Fat deposits may also be seen in the eye, as a grey ring around the outside of the iris, the coloured part of the eye. This so-called “arcus senilis”, starts at the top and bottom of the iris before progressing to form a complete ring. It doesn’t interfere with vision.

About 45% of people over the age of 40 have this fatty halo around their iris, rising to about 70% of people over the age of 60. The presence of this fatty ring has been shown to be associated with some of the risk factors for coronary heart disease.

5. Rotten gums and loose teeth

The state of your oral health can also be a good predictor of the state of your cardiovascular health. The mouth is full of bacteria, both good and bad. The “bad” bacteria can enter the bloodstream from the mouth and cause inflammation in the blood vessels, which can lead to cardiovascular disease.

Studies have shown that tooth loss and inflamed gums (periodontitis) are markers of heart disease.

6. Blue lips

Another health indicator from the mouth is the colour of your lips. The lips are usually red, but they can take on a bluish colour (cyanosis) in people with heart problems, due to the failure of the cardiovascular system to deliver oxygenated blood to tissues.

Of course, people also get blue lips if they are extremely cold or have been at a high altitude. In this case, blue lips are probably just due to a temporary lack of oxygen and will resolve quite quickly.

In fact, the other five symptoms — mentioned above — can also have a benign cause. But if you are worried or in doubt, you should contact your GP or other healthcare professional for an expert opinion.

Adam Taylor is director of the Clinical Anatomy Learning Centre and a senior lecturer at Lancaster University.

© ARZTSAMUI/Shutterstock close up of arcus senilis during ophthalmic examination.
Xanthomas are most commonly seen in people with a genetic disease called familial hypercholesterolemia. People with this condition have exceptionally high levels of low-density lipoprotein cholesterol — so-called “bad cholesterol”. The levels of this cholesterol are so high they become deposited in the skin. Unfortunately, these fatty deposits are also laid down in arteries that supply the heart.
The mechanism that causes these fatty deposits in tissues is understood and it holds an iconic place in medicine as it led to the development of one of the blockbuster group of drugs that reduce cholesterol: statins.