CASE STUDY: THE UNDIAGNOSED-

DIAGNOSEDSABRINA WOLFE

CONSIDER THE FOLLOWING PATIENT:• A 13 year old female patient comes in complaining of

sever upper/middle region abdominal pain, hot flashes, slight swelling of the abdomen, sever nausea, diarrhea, exhaustion, and body aches. The patient’s charts reveal that she had multiple medical tests done since the age of 5 and has also seen more than a handful of doctors and specialists without a successful diagnosis.

What would your initial diagnosis be for this patient?

What tests would you preform?*Full blood workup was already done

CELIAC DISEASE DIAGNOSIS• Celiac Disease is an autoimmune, genetic disease.

• This disease causes the body to produce similar effects that it would if a poison were to enter when the person eats gluten.

• These effects attack the villi on the walls of the small intestine.

• With prolonged exposure to gluten, the patient will lose the ability to absorb nutrients causing malnourishment along with several other long term health risks.

CELIAC DISEASE DIAGNOSIS• Celiac Disease is on the most commonly

misdiagnosed diseases, albeit it affects about 1% of the US population.• It is commonly diagnosed with a simple blood test,

however if antibodies do not show up in the blood work, an upper GI endoscopy is preformed to examine the condition of the small intestine.

CELIAC DISEASE DIAGNOSIS• Celiac Disease has 2 trigger parts: the external

trigger and the immune response.• The molecule scientists are focusing most on is

the HLA-DQ region on chromosome 6p21.3, an antigen presenting cell.

HLA-DQ• Different isoforms of this cell surface receptor

protein found on antigen presenting cells can bind to and present different antigens to T-cells.

• When T-cells are stimulated to grow they can signal B-cells to produce antibodies.

• HLA-DQ help in recognizing and presenting foreign antigens derived from potential pathogens but it can also recognize common self-antigens and presenting them to the immune system developing a tolerance from a young age.

HLA-DQ• However when tolerance is lost, HLA-DQ

becomes involved in an autoimmune disease.• This cell surface receptor protein is specific to

Celiac Disease and diabetes mellitus type 1.

CELIAC DISEASE: FINAL THOUGHTS• With advancements in knowledge about proteins like HLA-

DQ and the genetic influence on DNA, scientists are on the right tract to developing a solution for Celiac Disease.

• HOWEVER, there are still too many unknowns about Celiac Disease itself to know what the cause of it is specifically.

8 YEARS LATER• Having personally battled this disease for 8

(diagnosed) years now, I can honestly say I am very excited with the progress that is being made on how the disease works and treatment for it!

SOURCES:

• http://www.beyondceliac.org/celiac-disease/facts-and-figures/• http://

jem.rupress.org/content/jem/169/1/345.full.pdf