CREST Syndrome Genetic Disorder (Guide)

Updated April 5, 2019

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What Is CREST Syndrome?

When it comes to understanding a CREST syndrome diagnosis, and how life can change for someone who has the disease, you may be wondering what a CREST diagnosis means.

First things first, you should first know that CREST syndrome is a form of scleroderma — a disease that attacks the body’s connective tissue.

What's in this Guide?

Disclaimer: Before You Read

It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don't smoke.

Genetics is a quickly changing topic.

According to Johns Hopkins Scleroderma Center, these kinds of diseases are “autoimmune, rheumatic, and chronic,” meaning that they occur when the body’s immune system fights against itself (autoimmune), heavily impact the joints, tendons, ligaments, bones and muscles of the body (rheumatic), and require ongoing medical attention (chronic).

So, what exactly is CREST syndrome? How does it impact a person’s life expectancy and quality of life? And what facts should you know about CREST syndrome when it comes to understanding a disease that you or a loved one may be facing?

First, you should understand that CREST syndrome is defined by the National Institutes of Health (NIH) as a “widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs.” Overall, doctors and CREST researchers believe the disease occurs when the body’s immune system creates too much collagen — a kind of protein created by the body that helps build the structure of hair, nails, skin, bones, ligaments, and tendons.

Collagen then builds up on the skin and on internal organs, which can make it difficult for them to work efficiently and effectively.

The name for this disorder actually is an abbreviation for the symptoms caused by this disease. CREST stands for:

  • Calcinosis: A health issue where calcium deposits build up under the skin (such as on the hands and fingers) and can cause severe damage to body parts made up of soft tissue, such as internal organs.
  • Raynaud’s phenomenon: A condition that causes blood vessels in some appendages (most commonly the fingers) to have spasms due to temperature changes or stress.
  • Esophageal dysfunction: A diagnosis of esophagus-related issues, such as acid reflux, difficulty swallowing, or slowing of the esophagus’ capabilities to help with the food digestion process.
  • Sclerodactyly: A condition where skin on the hands, fingers, toes, and feet begins to thicken and tighten, making movement difficult. In some cases, sclerodactyly can cause muscles in the hands and feet to atrophy.
  • Telangiectasias: A health issue that occurs when skin vessels on fingers, the face, or inside of the mouth become dilated. This condition leaves visible marks in these areas.

While most people know the disease by the name CREST, it is often also referred to as limited cutaneous scleroderma.

Many people with a CREST syndrome diagnosis wonder if their life expectancy will be shortened. According to Johns Hopkins CREST and scleroderma experts, modern medicine has helped improve the quality of life for people with CREST syndrome and other forms of scleroderma. While CREST can cause chronic pain and other issues — one of the largest being kidney disease — medicines such as ACE inhibitors (which help reduce blood pressure) often provide therapy for people with CREST by reducing the chances of major organ failure.

For this reason, and because the severity of CREST syndrome varies from person to person, there’s no reason to believe that CREST shortens a person’s lifespan by a specific amount of time. Still, CREST syndrome and scleroderma researchers believe that the disease can sometimes be life-threatening, especially in situations where a doctor considers a person’s case of the disease to be severe.

How Is CREST Syndrome Inherited?

Some people may have a higher risk of developing scleroderma thanks to their DNA, but this family of diseases — which includes CREST syndrome — isn’t necessarily genetic.

NIH researchers believe that genetics do play a role in the development of CREST, but the disease is not passed from a parent to their child in the same way that is seen with other genetic conditions.

While little is known about just how CREST is impacted by genetics, researchers believe that people with a family health history of autoimmune diseases, including CREST, are at higher risk for developing a form of scleroderma. According to the NIH:

“An individual with an affected relative is twice as likely to develop the condition as someone without a family history.” 

So, while researchers believe that CREST syndrome is not directly passed from parent to child, there is some level of evidence that people who have a family history of scleroderma or CREST syndrome may have a higher chance of developing the condition themselves.

What Causes CREST Syndrome?

Unfortunately, not much is known about the origins of CREST syndrome. While researchers of the condition understand that it is most likely an autoimmune disease 1— an illness caused by the body attacking its own immune system — there’s no clear understanding of why it occurs.

Because the medical community still doesn’t understand why CREST syndrome occurs, most care for people with CREST diagnoses focuses on combating the major symptoms caused by the disease in an effort to stave off major medical and health issues.

Diagnosis Of CREST Syndrome

Diagnosing CREST syndrome can be difficult 2, and many patients struggle to get an accurate diagnosis. That’s because many symptoms of the disease can be misidentified as symptoms for other health conditions, specifically connective tissues or autoimmune diseases.

This can lead to a delay in getting a proper diagnosis — not to mention the fact that the rarity of the disease can also make it difficult to identify. According to the NIH, CREST can be tricky to diagnose because it can occur at the same time as other autoimmune diseases, such as rheumatoid arthritis or lupus.

This can make it difficult for doctors to identify that there is more than one health condition happening at the same time.

How do doctors test for CREST syndrome?

When it comes to determining if you have the disease, doctors rely on several kinds of tests, including:

  • Skin biopsies: Because scleroderma-related diseases impact the skin and other soft tissue on the body, biopsies are often used to get a closer look. Doctors are able to examine small skin samples under a microscope to get more clues that could rule out or push for a CREST diagnosis.
  • Blood tests: Using a blood test in a CREST diagnosis can be of benefit, because many people with the syndrome or a form of scleroderma have specific kinds antibodies present in their blood. Unfortunately, not all people with CREST have these specific antibodies present — meaning that the test will not lead to a hard-and-fast diagnosis of the disease. Blood tests, like skin biopsies, are beneficial at piecing together parts of the CREST diagnosis puzzle.
  • Testing of major organs: Because CREST is known to affect specific body parts, more invasive testing into the health of organs such as the kidneys, heart, and lungs may be necessary. A variety of tests can be used to evaluate a potential CREST patient’s organ health, and that information can be used to determine if a form of scleroderma is causing health issues.

How do you diagnose renal tubular acidosis?

Knowing all this, how do you diagnose CREST syndrome? As explained above, CREST syndrome has five main symptoms. But, according to the U.S. National Library of Medicine, it is not necessary to have all five symptoms to be diagnosed with the syndrome 3.

In most cases, doctors only require two symptoms to make an accurate diagnosis.

CREST Syndrome Genetics

Genetic tests for CREST syndrome — are they available?

While researchers understand that there may be some link between genetics and CREST, there’s currently no DNA tests to detect if you have CREST, if you will get it, or if you have a family history of the disorder. That means it is not possible to use any kind of DNA test — neither one taken at your doctor’s office nor one purchased online and mailed to a laboratory — to definitively determine if you have CREST or are at risk of developing the condition based on your genetics.

DNA testing to spot or detect CREST early

Because DNA tests look at your individual genetic code, they can give genetic scientists and your doctor the ability to explore your chromosomes and how they make you who you are. Unfortunately, researchers have not been able to determine a link between specific mutations in chromosomes that may increase the chances of someone developing CREST.

The further implications of limited research mean that there is no DNA testing to spot or detect CREST syndrome early for people who may be at risk of developing it later in life.

Some doctors, when trying to make an accurate diagnosis, will utilize a blood test for CREST, in which they observe your blood sample to determine if certain antibodies are present. These blood tests to detect the possibility of CREST look for the anticentromere antibody (ACA), a protein created by the immune system that mistakenly attacks the body’s soft tissue 4.

If an ACA test comes back positive, that means that the patient’s blood contains this protein, and there is a higher probability that the person has CREST. These tests, while not 100 percent definitive, are very reliable, since the ACA protein is found in about 60 to 80 percent of people who are diagnosed with CREST.

DNA Tests Currently Available For CREST Syndrome

Unfortunately, according to the NIH, there is no specific DNA test that can diagnose CREST.

Still, blood testing, in conjunction with other tests, can be beneficial at helping to diagnose CREST.

If you believe you or a loved one has symptoms of CREST, the best route to getting a blood test and undergoing other kinds of diagnostic testing is to speak with your health care professional.

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

If you are wondering how to best evaluate your child’s potential CREST diagnosis, you should know that a doctor who believes your child has symptoms can order a test. Your doctor can use the results of a blood test along with an examine to determine if your child may have CREST.

DNA Testing For CREST Syndrome: Strengths And Limitations

Unfortunately, DNA testing as many people know it doesn’t work for detecting CREST syndrome. But, a popular alternative is blood testing, to determine if there is the presence of the ACA protein.

This screening test can give doctors great insights to the possibility that you may have CREST; that’s because many people with the syndrome have these antibodies present in their blood. Still, there are limitations to testing for CREST, simply because there is no one test that can determine if you have the condition.

In fact, according to the NIH, there is no single test that can definitively determine whether or not you have CREST syndrome, meaning that blood tests, biopsies, and other forms of testing can look for symptoms of the disease, but can’t determine that you may have it without any symptoms to observe.

What Are The Chances That I Will Pass CREST Syndrome On To My Child?

Currently, researchers are unclear about how genetics play a role in the development of CREST.

In many cases, according to the NIH, CREST is diagnosed in people who have no family history of the disease. There have been a few rare cases where several related people in one nuclear family develop CREST, though researchers aren’t exactly sure why this occurs or how genetics plays a role in developing the disease.

Testing For CREST Syndrome On A Pregnancy Or Before A Pregnancy Is

Unless you are exhibiting some kinds of symptoms related to CREST syndrome, there’s no general testing that can be done before or during pregnancy to determine if you will develop the disease.

If you do believe you have CREST symptoms and speak with a doctor about diagnosing the disease, you should know that almost all forms of testing can be safely tailored around pregnancy. It is also important to know that there is no way to determine if an unborn child will have CREST syndrome.

Who Does CREST Syndrome Typically Affect?

CREST syndrome is relatively rare — in fact, it is not clear how many people potentially have and live with CREST syndrome, though more information is available regarding the entire group of scleroderma diagnoses.

According to the Johns Hopkins Scleroderma Center, scleroderma is relatively rare; it is estimated that only 500,000 people in the United States have some form of scleroderma 5.

It is also known that scleroderma is much more common in females than males — in fact, women are four times more likely to be diagnosed than men 6. In addition, people of certain ethnic backgrounds — primarily African Americans and Native Americans — often are at higher risk of developing CREST, as well as people who have been exposed to certain environmental factors, such as coming into contact with silica, polyvinyl chloride, and other toxins.

In most cases, scleroderma develops and is diagnosed in people between the ages of 35 and 55 7. Many people wonder if CREST syndrome occurs in children. Juvenile scleroderma, which occurs in children of all ages — including in infants or babies — can occur.

According to data from the Cleveland Clinic, it’s estimated that between 5,000 and 7,000 children in the United States live with scleroderma.

CREST Syndrome Treatment Options

Is CREST syndrome treatable? You should know that while there is no cure for the disease, it is treatable through a variety of medical care options. In fact, there are three main avenues of treatment that people with CREST pursue to reduce and relieve symptoms of the disease:

  • Medications: A variety of medications have proven to be beneficial for CREST patients, all targeting different symptoms of the disease. Immunosuppressant drugs are available to help slow or reduce the amount of collagen the disease creates, therefore reducing buildup on internal organs, joints, and other soft tissue. In addition, blood pressure medications have been found to be beneficial by removing some stress caused by CREST from internal organs, while antibiotics and antacids can help relieve the pain of regular symptoms such as heartburn, skin ulcers, and skin infections.
  • Physical Therapy: Different kinds of physical therapy are often beneficial to people who are diagnosed with CREST. Working with a physical therapist can help patients once again move joints and appendages to relieve pain and reduce the disease’s impact on mobility.
  • Surgery: For CREST patients who have large calcium deposits or visible lines created by swollen blood vessels, surgery is a common option. These procedures can remove the deposits to help the body move more easily and relieve discomfort, or help reduce the visible appearance of CREST symptoms.

The Prognosis For Crest Syndrome

Many people who are diagnosed with CREST syndrome or scleroderma wonder what it means for their health and lifestyle.

Does the disease ever go away? Is there a cure for CREST syndrome? How do you live with and treat the disease. Here’s what you need to know about living with CREST syndrome and scleroderma.

Does Crest Syndrome Go Away?

Unfortunately, researchers have not been able to identify a cure for this autoimmune disease, and consider it a chronic, lifelong condition. Because there is still so much to learn about CREST, and how it impacts the body over the long term, many researchers don’t understand why its symptoms can improve over time or worsen for some patients.

Is There A Cure For Crest Syndrome? What are CREST syndrome care options?

If you’ve been diagnosed with CREST syndrome, it can be difficult to hear that there is no known cure for the condition. Still, the general prognosis is still good.

For many people diagnosed with CREST syndrome, the best course of action is working with a specialist to help alleviate the symptoms caused by the disease in an effort to reduce chronic pains and more serious health conditions. This may include a variety of treatments, including medications to help ease symptoms, physical therapy, and some forms of surgery — all of which have had success outcomes at reducing CREST symptoms.

Over time, this can help to reduce the effect of CREST symptoms, and many patients even find that the severity of the disease decreases with time, although it may never fully go away.

The outcomes of a CREST diagnosis once meant a lifetime of pain and discomfort caused by the disease, but now researchers at Johns Hopkins believe that while there is still so much to learn about CREST, many patients are able to use modern medicine to live fully, enjoyable lives with minimized symptoms.

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Referenced Sources

  1. CREST syndrome. 2019.
  2. Limited scleroderma.
    Mayo Foundation for Medical Education and Research (MFMER). May 18, 2017.
  3. CREST syndrome. 2019.
  4. Anticentromere Antibody.
    American Association for Clinical Chemistry. Last modified on May 1, 2019.
  5. Understanding Scleroderma.
    Johns Hopkins Scleroderma Center. 2019.
  6. What is scleroderma?
    Scleroderma Foundation. 2019.
  7. Scleroderma: An Overview.
    Cleveland Clinic. 2019.