Stevens-Johnson Syndrome Genetic Disorder (Guide)

What is Stevens-Johnson Syndrome?

If you’ve been ever been diagnosed with Stevens-Johnson syndrome, or know somehow who has, it’s likely that you understand how serious the condition is.

Stevens-Johnson syndrome is a serious and severe condition that often happens out of the blue and can cause major, irreversible damage to the body’s skin tissue.

So, while many people who have encountered a Stevens-Johnson syndrome diagnosis know that it is a medical condition that requires urgent attention from a doctor, the rapid pace of needing treatment often makes it difficult to understand why the condition has occurred. Here are all the facts you should know about Stevens-Johnson syndrome.

Stevens-Johnson syndrome can go by several different names, including Lyell syndrome and toxic epidermal necrolysis (TEN), but regardless of which name is used, the condition has distinct symptoms and causes. Stevens-Johnson syndrome is a severe reaction to some kinds of prescription medications that causes damage to skin and mucous membranes — the soft-tissue that lines and protects parts of your ears, nose, throat, eyes, and internal organs.

As part of the syndrome, an infected person’s body will develop a rash that in turn creates painful blisters and lesions around their eyes, genitals, mouth, and nose ¹. Within several days, these blisters begin to die and slough off, creating patches of raw skin (called erosions) that look and feel similar to severe burns.

Stevens-Johnson syndrome can be extremely painful, and the intensity of the pain can depend on the severity of the reaction to the medication that triggers the condition. Because the mucous membranes protect delicate body parts, these areas — such as the eyes and throat — can be heavily impacted; some patients suffering from Stevens-Johnson syndrome will have difficulty breathing or swallowing ², while others may have difficulty urinating if the condition spreads to the genital area.

In prior years, doctors considered Stevens-Johnson syndrome to possibly be different from toxic epidermal necrolysis (TEN), but modern research into the condition shows that the diseases are similar and, in fact, are on a spectrum based by severity. Stevens-Johnson syndrome is considered less severe and most people recover, while toxic epidermal necrolysis is a much more intense and dangerous form of the reaction that has a higher mortality rate (estimated at 25 percent) ³.

The severity of these related diseases is based on an individual’s symptoms, as well as how much of their body is affected.

Stevens-Johnson syndrome is treatable, and in many situations the body must work through the condition with medical attention to help treat pain, minimize the impact of symptoms, and prevent infection of open skin wounds. In general, a person diagnosed with Stevens-Johnson syndrome has the same life expectancy as a normal, healthy human — though in some situations, the disease can be life threatening and lead to death.

According to the National Institutes of Health (NIH), around 10 percent of people diagnosed with Stevens-Johnson syndrome die from complications related to the disease ⁴, including sepsis, organ failure, and acute respiratory distress syndrome.

Because Stevens-Johnson syndrome is a painful and dangerous condition, it is important that someone who suspects they have developed the condition seek medical assistance as soon as possible. Delaying medical attention can lead to death or serious lifelong complications caused by the syndrome’s impact on internal organs.

How Is Stevens-Johnson Syndrome Inherited?

If you have ever been diagnosed with Stevens-Johnson syndrome, or have a family member who has been diagnosed with the condition, you may be wondering if it is an inheritable disease.

According to the NIH, Stevens-Johnson syndrome is not an inherited health condition, meaning it is not passed from parent to child. However, the NIH reports that it is possible for parents to pass along portions of their DNA that may make their children more prone to developing the disease at some point in their life.

Researchers of Stevens-Johnson syndrome believe that having the human leukocyte antigen (HLA) allotype — a portion of genetic code in the form of proteins that helps regulate the immune system — can increase a person’s risk of developing Stevens-Johnson syndrome if they are exposed to certain kinds of medications ⁵.

This gene, also referred to as HLA-B*1502, has been linked to cases of Stevens-Johnson syndrome, but having it doesn’t necessarily mean you’ll develop the condition.

According to the National Center for Biotechnology Information, it is possible that multiple people in the same family could develop Stevens-Johnson syndrome following a medication reaction if they all share this kind of genetic code.

What Causes Stevens-Johnson Syndrome?

Doctors have a clear understanding of what causes most cases of Stevens-Johnson syndrome: the body reacting abnormally to a medication or infection.

According to the National Organization for Rare Disorders (NORD), there are specific drugs that have been linked to most cases of Stevens-Johnson syndrome, including:

• Allopurinol — a drug that is often used for treatment of kidney stones or gout
• Anti-epileptics — medications that prevent seizures in people who have epilepsy
• Antibiotics used to treat infections, such as penicillin
• Nevirapine — a medication that that treats and prevents the spread of HIV
• Nonsteroidal anti-inflammatory drugs (NSAIDs) — medications that reduce inflammation and pain; many NSAIDs are available over-the-counter, including acetaminophen, ibuprofen, and naproxen sodium
• Phenobarbital — a sedative that is often used in epilepsy treatment

For people who develop Stevens-Johnson syndrome, but aren’t on any medications, doctors may look into their recent health history. According to the Mayo Clinic, the disease can be onset due to a recent infection, including ones caused by:

• Hepatitis A
• Herpes simplex
• Herpes zoster
• HIV
• Pneumonia
• Other bacterial infections

Most cases of Stevens-Johnson syndrome can be linked to reactions to medications; NORD estimates that approximately 75 percent of all Stevens-Johnson syndrome cases are linked to this cause ⁶. Recent illnesses and infections that trigger the disease make up a portion of the remaining percentage of cases, though you should know that there are some situations where doctors just aren’t sure what causes Stevens-Johnson syndrome.

Those situations — called idiopathic cases — are relatively rare.

Still, research into the causes of Stevens-Johnson syndrome suggests that many cases are caused by the perfect storm of multiple factors, and that many people who develop the condition may be genetically predisposed to getting it at some point in their life.

Diagnosis of Stevens-Johnson Syndrome

Making a prompt diagnoses in Stevens-Johnson syndrome cases is very important, since medical researchers have linked a delay in obtaining medical care to a higher risk of death or major health complications.

Diagnosing the syndrome in an unwell patient begins with first evaluating their symptoms before moving onto a variety of tests.

How Do You Diagnose Stevens-Johnson Syndrome?

Stevens-Johnson syndrome has some general symptoms that can be mistaken for other illnesses, though many of the clues that lead to a diagnosis are specific to the disease. Some of the most common symptoms related to Stevens-Johnson syndrome include:

• A spreading skin rash that often appears a red or purple
• Body aches and pains
• Development of blisters near the eyes, genitals, mouth, and nose
• Fatigue and excessive tiredness
• Fever and elevated body temperature
• Flaking, shedding skin in the same location as blisters several days after they appear
• Itching, burning eyes
• Sore mouth and throat, often in conjunction with a cough

Because the eyes are especially susceptible to the effects of Stevens-Johnson syndrome, there are additional symptoms to be aware of. The illness can cause blisters inside of the eyelids, eye infections, and difficulty seeing.

Anyone who believes they may have developed Stevens-Johnson syndrome and who has eye pain or difficulty seeing should contact a doctor as soon as possible to prevent permanent sight loss.

How Do Doctors Test for Stevens-Johnson Syndrome?

After evaluating your symptoms, a doctor who suspects you have Stevens-Johnson syndrome will utilize a variety of diagnostic tests. Tests to detect Stevens-Johnson syndrome include:

• Blood tests: Doctors can use blood tests to determine if your body is currently fighting off an infection, which can be an important clue in determining the trigger of Stevens-Johnson syndrome.

• Skin biopsy: While skin culture swabbing attempts to pick up bits of skin through a gentle swabbing process, sometimes doctors will require a biopsy — that is collecting a skin sample. This can be helpful in situations where doctors need a larger sample to better evaluate and determine the next course of action.

• Skin examination and culture swabbing: Because Stevens-Johnson syndrome has such an outward visible appearance, a doctor who suspects you have the condition will examine your body to determine if any blisters, rashes, or peeling is due to the disease. A medical professional may choose to also swab areas of your skin (called collecting a culture) for further examination by a testing laboratory.

• X-ray: Because Stevens-Johnson syndrome can be set off due to a recent illness or bacterial infection, a doctor may choose to use an X-ray to check your lungs for infections such as pneumonia.

Following these forms of examination and testing, your doctor will likely be able to determine whether you definitely do (or do not) have Stevens-Johnson syndrome.

Stevens-Johnson Syndrome Genetics

Overall, Stevens-Johnson syndrome is somewhat considered a fluke — simply because most people who develop it do so thanks to a reaction to certain medications in conjunction with genetic, personal health, and environmental factors.

Researchers understand that it is possible for genetics to increase a person’s risk at developing the disease, but according to the NIH, simply having the HLA-B*1502 gene doesn’t mean you will definitely develop the syndrome. In fact, the National Institutes of Health says:

“Most people with genetic variations that increase the risk of Stevens-Johnson syndrome/toxic epidermal necrolysis never develop the disease, even if they are exposed to drugs that can trigger it. Researchers believe that additional genetic and nongenetic factors, many of which are unknown, likely play a role in whether a particular individual develops Stevens-Johnson syndrome/toxic epidermal necrolysis.”

Still, many people who believe they are at risk worry that that they could develop the disease, and seek out forms of testing in an effort to find out if they have heightened risks.

Genetic Tests for Stevens-Johnson Syndrome — Are They Available?

Currently, there is no test for Stevens-Johnson syndrome on the consumer market. This means that you can’t purchase a test online and submit a saliva sample to a private laboratory to learn if you have genetic variations that can increase your risk for developing the condition.

But, if you believe that you may be at risk for developing Stevens-Johnson syndrome due to a family history and a concern about medications you are taking, a doctor can order a blood DNA test for you that can detect whether you have the HLA-B*1502 gene.

DNA Testing to Spot or Detect Stevens-Johnson Syndrome Early

You should know that there are no standard DNA tests to detect your risk of developing Stevens-Johnson syndrome or early onset development of the condition. A DNA test for the HLA-B*1502 gene done through blood testing, which observes portions of your genetic code such as the chromosomes, is not able to give a definitive answer about whether you will develop the disease ⁷.

DNA Tests Currently Available For Stevens-Johnson Syndrome

As mentioned above, there are no consumer DNA tests available for detecting whether you have Stevens-Johnson syndrome.

A blood DNA test can be used to determine if you have the HLA-B*1502 gene, and may be at heightened risk for potentially developing the condition.

Where can I go for a genetic test for my child?

If a family member has been diagnosed with Stevens-Johnson syndrome, you as a parent may be worried that your child could also develop the disease, especially if they are on potential trigger medications or have a weakened immune system. If you’re interested in determining if your child has the HLA-B*1502 gene, you can speak with your doctor to order a blood DNA test.

DNA Testing for Stevens-Johnson Syndrome: Strengths and Limitations

One of the main strengths of DNA testing for Stevens-Johnson syndrome is that you can better understand your personal risk of having this kind of reaction to certain medications.

People who rely on anti-epileptic medications, NSAIDs, or other medications that can trigger Stevens-Johnson syndrome can then choose to create an alternative medication plan if their DNA blood test says they have the HLA-B*1502 gene ⁸.

Unfortunately, most people are not screened for the HLA-B*1502 gene, though some doctors believe that increased screening for this gene among certain ethnic groups that are more likely to have it could help prevent cases for individuals who utilize certain medications.

How is Stevens-Johnson Syndrome Inherited?

Researchers understand the Stevens-Johnson syndrome isn’t passed from parent to child, even though it is possible for a parent to pass along the HLA-B*1502 gene. While this gene can lead to an increased risk of developing Stevens-Johnson under the right conditions, it is in no way a definitive clue that someone will develop the disease or inherit Stevens-Johnson from their parent.

What Are The Chances That I Will Pass Stevens-Johnson Syndrome Onto My Child?

According to many medical research agencies, such as the NIH, Stevens-Johnson is not a condition that is passed onto children from their parents.

While some families may share certain genetic factors that make them more susceptible to developing Stevens-Johnson syndrome, you should know that there is no evidence that says the condition is inherited from a parent. This means that if you have a parent or grandparent who has had Stevens-Johnson syndrome, you have a heightened chance of also developing the disease, though your chances of not having it at some point in your life are just as high.

Testing For Stevens-Johnson Syndrome On A Pregnancy Or Before A Pregnancy Is Achieved

While it is possible to have a blood DNA test done to determine whether or not you have the HLA-B*1502 gene prior to and during pregnancy, neither of these tests can definitively tell you that you will or won’t develop the condition during your lifetime.

And for families concerned that an unborn child may be at risk for Stevens-Johnson syndrome, you should know that in-utero testing isn’t common for this kind of condition or related gene, simply because the chance of an unborn child having the condition is exceptionally low.

Who Does Stevens-Johnson Syndrome Typically Affect?

Stevens-Johnson syndrome can happen to anyone, both males and females, though there are certain people who are more at risk, including:

• A personal or family history of Stevens-Johnson syndrome
• People who have the HLA-B*1502 gene, which is more common among certain ethnic groups such as those of Chinese, Indian, or Southeast Asian heritage
• People who have compromised or weakened immune systems
• Individuals who have HIV

Does Stevens-Johnson Syndrome Occur in Children?

Children of all ages can develop Stevens-Johnson if they utilize medications that put them at risk, especially if they have a compromised immune system or test positive for the HLA-B*1502 gene. Unfortunately, it is possible for Stevens-Johnson syndrome to develop in infants or babies.

Stevens-Johnson Syndrome Treatment Options

Is Stevens-Johnson syndrome treatable? Absolutely, though doctors will focus on easing discomfort, preventing infections, and reducing the chances of lasting organ damage when approaching your care.

If diagnosed with this condition, you should expect to be hospitalized for multiple days to several weeks as your skin and body heal. Treatment for Stevens-Johnson typically includes:

• Cleaning and dressing skin wounds to prevent infection and remove dead skin
• Immediately stopping medications that may have triggered the reaction
• Pain medication to ease discomfort
• Regular examinations of the skin and mucous membranes to monitor the condition’s progress
• Steroids and antibiotics to reduce inflammation and prevent infection, along with other medications that may vary based on your specific case

The Prognosis for Stevens-Johnson Syndrome

Most people who develop Stevens-Johnson syndrome are on their way to recovery within a matter of days.

After seeking medical attention to help with the discomfort of the disease — and to evaluate the severity to prevent further side effects — many people begin to heal and their bodies create new skin to replace what was lost during the effects of the reaction within days to weeks. Some people have lifelong reminders of the health condition, such as eye problems or skin scarring, though early intervention for Stevens-Johnson symptoms can help prevent these issues.

For Stevens-Johnson syndrome, medical experts estimate that only around 10 percent of people diagnosed with the disease die from complications that are often related to waiting too long to seek medical attention.

Does Stevens-Johnson Syndrome Go Away?

People who are diagnosed with Stevens-Johnson syndrome should know that the condition will go away, though there is the potential for it to reoccur if you once again take a triggering medication.

Is There a Cure for Stevens-Johnson Syndrome?

There is no cure for Stevens-Johnson; unfortunately, the body must work through the reaction. With assistive care from medical professionals and medical therapies, the effects of the condition can be greatly reduced, especially long-term effects on internal organs and eyes.

What are Stevens-Johnson Syndrome Care Options?

After treatment in a hospital setting, many people who recover from Stevens-Johnson syndrome work to prevent the condition from happening again. With some levels of prevention, outcomes for caring for a body that has endured Stevens-Johnson syndrome are great.

Genetic testing to better understand your potential risk of bad medication reactions offers great outcomes in preventing a recurrence of Stevens-Johnson, especially for people who rely on medications that may cause potential flare-ups.

Many people who endure Stevens-Johnson syndrome also work to alleviate environmental factors that could lead to illness that may also trigger the condition.

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