With the prevalence of inaccurate diagnoses issued to rare disease patients, I feel obligated to give an explanation of how my doctors determined I have Immune Thrombocytopenia. While this guide should not be used in place of a healthcare professional’s official diagnosis, you may use this as a guide to request tests so that you can be certain that you have ITP. There are a lot of other diseases and disorders, many of which are autoimmune in nature, that have thrombocytopenia as a symptom. Thrombocytopenia and Immune Thrombocytopenia (ITP) are two entirely different conditions.
*Please note when I discuss my platelet levels, I am referring to them in the 1000 range. So 65 = 65,000*
The first step is obtaining a CBC with Differential. This test will show your blood cell levels which includes platelets, red blood cells, white blood cells, hemoglobin, hematocrit, MCV, MCH, etc. This will give your hematologist a starting point. My first CBC came back with a platelet count of 7. This put my doctor into panic mode. Officially, any platelet count below 150 is considered to be a potential issue, regardless of symptoms. It is important that you have an idea of your platelet level.
Do not rely on symptoms like bruising and petechiae alone. A CBC is important!
In the hospital I had a series of tests run including multiple CBCs per day. That’s how my veins were shot after 24 hours. The hematologists I saw (I had three of them) ordered an antinuclear antibody test (ANA) to check for autoimmune activity. I also had an HIV test to rule out the disease. Continuous CBCs showed platelets levels below 10. I was eventually released after 6 days but my count was only at 18. After the 3rd hematologist was hell-bent on taking my spleen (not recommended because of a success rate of about 30%), I sought treatment at a research hospital.
When I saw Dr. Ahn at the University of Miami, he diagnosed me with a case of acute Thrombocytopenia until he could confirm ITP after a series of tests. Don’t trust that you have ITP 48 hours after finding out you have low platelets. There are a variety of tests that need to be given before a hematologist can confirm that you have ITP. Listed below are every test I was given.
Reticulocytes, APTT, PROTIME-INR, Thrombin Time, Fibrinogen Level, D-Dimer Quantitative, Lupus Anticoagulant Reflex, Lactate Dehydrogenase (LDH), Comprehensive Metabolic Panel, FERRITIN, Folate, Vitamin B-12, ANA Screen w/ REFL Titer IFA, C3 Complement, C4 Complement, Epstein Barr Virus VCA Ab Panel, Direct Antiglobulin Test, Cold Agglutinins, IgE, ENA+DNA/DS+SJORGEN’S (includes Smith Antibodies, Sjogren’s Antibodies (SSA) & (SSB), Rnp Ab, Anti-DNA (DS) Ab Qn), H. Pylori Antibodies (IGG,IGA,IGM), H. Pylori stool test, H. Pylori breath test, Immature Cells, QUANTIFERON TB Gold (in tube), Hepatitis C Antibody, HEP B Core Antibody, Hepatitis B Surface Antibody.
Still with me? Good!
Note the Epstein Barr (Mono), Hepatitis and TB (Tuberculosis) tests. Dr. Ahn sent me to see an infectious disease doctor to rule out any infections that could be causing low platelets as a side effect. By Googling low platelets or thrombocytopenia as a symptom, you will see many different disorders come up. Our goal was to eliminate any possibilities other than ITP to confirm my diagnosis. After about three months of testing and waiting for results, we were able to confirm that I am part of the ultra exclusive Immune Thrombocytopenia club.
You are also probably wondering what H. Pylori is, and why was I given tests for it. I actually had a blood test, breath test and had to give a stool sample (so much fun, let me tell you) to rule out infection. H. Pylori is a bacteria in the digestive system that can cause ulcers. It also happens to cause low platelets! Over the last few months I have seen people on ITP support forums find out they don’t actually have ITP, but rather an H. Pylori infection. Good news for them, there are medications that eliminate this issue and thus, their platelets return to normal.
Reaching an official chronic Immune Thrombocytopenia diagnosis takes about 6 months. For children, they can have thrombocytopenia from an illness that activates their immune system to target platelets, but recover in a few months and never have issues again. I have met a few adults who were lucky as well. For the rest of us, a proper diagnosis is the only way to accurately manage this disease. This lowers the risk of death, but does not entirely eliminate it. I believe that Immune Thrombocytopenia patients have a higher risk of death than reported, simply because so many people are misdiagnosed and it dilutes the statistics. This is all due to a lack of testing by doctors thanks to ITP being a rare disease.
With 7,000 rare diseases, it is impossible to expect every doctor to know how to diagnose a patient. That is where you come in. You as the patient or caregiver have to be the advocate. You have to be informed and request further testing. Make sure you check out guidelines on PDSA‘s website on what foods and medications to avoid. If you feel your doctor isn’t providing you with adequate care, find a new one.
Be educated, be proactive, be empowered.