June 21, 2014

A Rare Presentation of Celiac Disease in a Pediatric Patient: The Journey to our Daughter's Diagnosis

I am choosing to write this post now, as many people have asked over the last two years, how our then 4 year old, was suddenly given this diagnosis.  It has not been an easy journey for us.  But I am finally feeling like I am ready to tell the entire story.  It is definitely not the typical picture of someone with Celiac Disease.  (You might want to get some popcorn.  This will be pretty lengthy.)

Let's start in April of 2012.  Our 4 year old daughter was extremely healthy.  She has always been small (her genetics won't allow her to be otherwise!), but she was gaining weight/height normally.  On April 6, we took her in to her pediatrician for cough and fever.  She weighed 34 lbs (26%) at that time. She was diagnosed with Strep throat and given an antibiotic.  Within a couple of days, she was no longer running fever or coughing.  But about 10 days later, she began developing a rash on her knees.  The rash was MISERABLY itchy.  These were the pictures that I took



For awhile, we just assumed that this was some type of allergic reaction to something.  We changed detergents, soaps, omitted certain nuts/fruits from her diet, etc. with no improvement.  On May 2, we took her back to the pediatrician to have the rash evaluated.  At this appt, she weighed 32 lbs (12%).  The thought at that time was that this rash might've been associated with the previous strep infection, a rash known as Guttate Psoriasis.  She was treated totally appropriately, and we left, assuming that the rash would be resolved in a couple of days.  But it only got worse.

Over the next couple of months, the rash would get better at times, only to return worse than before and more widespread than before.  She would scratch her skin so hard and so much, that she would start bleeding at times.  Totally convinced that this HAD to be some type of allergy, we would spend 10-20 minutes each night, covering our little girl in hydrocortisone cream.  But things kept getting worse.

Labor day weekend 2012, it became overwhelming clear that something was definitely wrong.  She had the worst breakout that she'd ever had, and I began noticing that it was primarily her joints that were involved.  In fact, almost every joint!  Her shoulders, elbows, knuckles, hips, knees, and ankles!  The rash was also on her bottom and abdomen, but the joints were definitely the most severe.  That weekend, I sent these pictures to our pediatrician, along with a description of the rash:









He emailed back fairly quickly, and said that he had forwarded these pictures to a dermatologist and would let me know as soon as he heard anything.  I'll never forget that night when I was driving home, and opened up the following email from the dermatologist:



And that is when life suddenly changed.  Biopsies??  Was she serious?  Surely I just needed an antihistamine or something!  And "Dermatitis Herpetiformis"??  In all of my medical training, I had never even heard of this before.  So naturally, I turned to Google.  And this is what I read.

"What Is Dermatitis Herpetiformis?"
An itchy, blistering, burning skin rash, dermatitis herpetiformis (DH) is a difficult condition to live with. The rash and itching occur on the elbows, knees, scalp, back, and buttocks. This rash likely indicates a more serious underlying condition: an allergy to gluten, better known as Celiac Disease. Dermatitis herpetiformis is also known as Duhring’s disease or gluten rash.

"What Causes Dermatitis Herpetiformis?"
From the sound of the name, many people think this rash is caused by some form of the herpes virus. This is not true. Dermatitis herpetiformis occurs in people with celiac disease, which is an allergy or intolerance to gluten. Gluten is a protein found in wheat, rye, barley, and oats.
Fifteen to 25 percent of people with celiac disease (also called celiac sprue or gluten-sensitive enteropathy) have DH. Celiac disease can also cause intense abdominal pain, constipation, nausea, and vomiting. However, some people with DH have celiac disease but do not have any of the intestinal symptoms. Even without symptoms, intestinal damage occurs in 90 percent of people with DH.

Celiac Disease.  Those words jumped off the page.  "Isn't that a GI disease???  She doesn't have any GI problems!  She has skin problems."  There really aren't enough words to describe what happened to me that night.  I was heart-broken.  She didn't have any classic Celiac symptoms.  But the description that I was reading of this rash was spot on with what we were seeing.   I knew that Celiac disease was a permanent condition.  I knew that this type of diagnosis would require close adherence to a diet that I knew nothing about.  And I knew that this diagnosis would require that I somehow figure out a way to explain to my 4 year old, why she could no longer eat the same way that everyone else around her ate.  What I did not know about Celiac Disease, if never diagnosed or if non-compliant with treatment, I learned that night.

Complications
Untreated, celiac disease can cause:
  • Malnutrition. The damage to your small intestine means it can't absorb enough nutrients. Malnutrition can lead to anemia and weight loss. In children, malnutrition can cause stunted growth and delayed development.
  • Loss of calcium and bone density. Malabsorption of calcium and vitamin D may lead to a softening of the bone (osteomalacia or rickets) in children and a loss of bone density (osteoporosis) in adults.
  • Infertility and miscarriage. Malabsorption of calcium and vitamin D can contribute to reproductive issues.
  • Lactose intolerance. Damage to your small intestine may cause you to experience abdominal pain and diarrhea after eating lactose-containing dairy products, even though they don't contain gluten. Once your intestine has healed, you may be able to tolerate dairy products again. However, some people continue to experience lactose intolerance despite successful management of celiac disease.
  • Cancer. People with celiac disease who don't maintain a gluten-free diet have a greater risk of developing several forms of cancer, including intestinal lymphoma and small bowel cancer.
Two days later, we were in the office of the dermatologist to have biopsies performed.  She weighed in that day at 28 lbs. TWENTY-EIGHT POUNDS.  She had lost 20% of her body weight in just a few months, and was now in the 1% for her age.  We had no idea how sick she was until that visit.  The doctor was totally perplexed by our little girl's presentation.  I remember her saying that if Addi had been 30 or even 20, she would bet the farm on the diagnosis of DH.  But it NEVER happens in kids.  And certainly not in 4 year olds.  She said that the youngest person she had ever seen with DH was 18, and even that was rare.  The typical age of this rash was 30-50. 

She gave us a couple of other possible diagnoses that were less similar in characteristic, but much more consistent with her age.  These were the things that we decided to hang our hats on, as ALL of the other possibilities resolved with age.  And so we prayed and prayed.  And waited for the call.  And a week later, we received the results:


And there it was.  Biopsy Confirmed.  Dermatitis Herpetiformis.  A week later, we were in the office of a pediatric gastroenterologist.  The diagnosis was so peculiar for her age, that even the dermatologist and our pediatrician wanted another form of confirmation.  My gosh!  She had NEVER had any of the typical symptoms that someone with Celiac is supposed to have.  She had never had diarrhea in her life, rarely complained of any abdominal pain, and never had nausea.  So how could this be true?

The gastroenterologist's visit was a bit of a dog and pony show, as several residents and students came in to see "something you probably will never again see in your career if you go into pediatrics, because it just never happens in kids."  Because she had already had a positive skin biopsy, the Dr offered to allow us to forego the intestinal biopsy that is usually recommended, if we would agree to do the Celiac blood panel.  If the results were inconclusive, we would move forward with the intestinal biopsy.  Luckily, the results were "as positive for Celiac Disease as I have ever seen" and no further biopsies were indicated.  There was absolutely no doubt.

The numbers on the left were her levels.  The numbers on the right are the "Normal Reference Range."


So, what is Celiac Disease exactly?  And why was she losing so much weight?  
In very basic terms, celiac disease is a very serious life-long autoimmune disease that is characterized by an "allergy" to gluten.  There is no medication or cure for Celiac disease.  The only treatment available at this time is strict adherence to a 100% gluten free diet.  Gluten is a protein composite found in wheat (or anything containing all purpose flour), barley, rye, malt, and other substances. Gluten provides elasticity to dough, allowing it to rise, and providing a chewy texture. 

What makes this an auto-immune disease rather than an allergy is the response that it creates in the body. Rather than producing a histamine response, which is controlled by anti-histamine medications such as Benadryl or Claritin, it produces an auto-immune response, in which the body begins attacking itself. 

In the normal individual, when food is consumed, it is absorbed by the lining of the intestines through little finger like projections called "villi".  In someone with Celiac Disease, when Gluten is introduced into the intestines, the body mounts an immune response and sends antibodies to destroy the gluten.  But antibodies do not discriminate, and instead of just destroying the gluten, it destroys everything around it.  Including the villi that are responsible for absorbing nutrients.  This leads to profound malnutrition and weight-loss.  No matter how much food is consumed, the Celiac patient will continue to lose weight if gluten is not removed from the diet.


We immediately switched her to a 100% Gluten Free diet, and the rashes started fading within a few days.  Two weeks later, you would've never known they were there.  It has now been almost 2 years.  We have pretty much adjusted to and accepted this new life, but there is truly not a day that goes by, that isn't made more difficult or frustrating by this diagnosis.  Especially now that she is in school. 
But the bottom line is that she is SO healthy today!!  I am amazed looking back at her growth chart, and seeing just what happened right before her diagnosis.


She is right back on track with where she used to be for both her height and weight.  And last week, she followed up with her GI specialist who confirmed how well she was doing (40.5 lbs, 14%) and added that he did not need to see us back unless we thought we needed him!  Yay!

Where do we go from here??  It is my hope, that one day we find out some answers (just for my own medical curiosity) as to the timing that her disease became active.  After looking at this graph, it is clear to me when it happened.  And I don't think that the timing is a coincidence.  I have been doing a little research, and have found a couple of theories that are being hypothesized, and are being studied currently.  Both theories require two factors.  1. That the individual carries the gene for Celiac.  2. That gluten is contained in the diet (Gluten is pretty much ubiquitous in the American diet).  The first, and most likely theory is this:  That in a genetically predisposed individual, a catalyst of some sort is required to cause this disease to become active.  Things such as infection (remember this all started with a cough/fever), surgery, or pregnancy.  The second theory out there is that there is possibly a link with the use of antibiotics (which she also took following that initial appt in April).  That study suggests that antibiotics play a role in the onset of celiac disease by changing the intestinal mucosa and activating the disease.  In fact, they have found that those with recent use of antibiotics were 1.4 x more likely to develop disease.  Either way, I am convinced that this all started following that initial infection, and am interested to see where these studies go in the future!

I'm also extremely excited to see where future developments take us regarding medications to treat Celiac patients, which would allow them to safely consume gluten.  Right now, there are four companies that are in clinical trials, and hoping that their drug is approved first.  All 4 drugs being trialed, take a different treatment approach:  One is an enzyme designed to break down the gluten protein, the second is a vaccine to help desensitize you to gluten, the third is a medication to help prevent "leaky gut", and the fourth binds to the gluten molecule in an effort to escort it safely from the body. Definitely some very viable options for the future!!

So, that is our crazy story!  If you have any questions, please ask!
Thanks for reading!

2 comments:

Meghan Pierce said...

Thank you for posting this story! I, too have gone around in circles trying to figure out what was wrong with me. I was diagnosed in February 2014 with Celiac's disease. I am glad to hear your daughter is doing well!

Lindsey Gillispie said...

Very interesting post, Amy! I, too, am very interested in these drugs in the pipeline - what a difference they could make for Celiac patients. I love Addi, and I am so glad that she is such a healthy girl. Thank God you had the knowledge and the instincts to get her the appropriate care so quickly. You two are amazing parents.