4 Autoimmune Disorders That Are Often Misdiagnosed

Do you have mysterious and hard to diagnose symptoms? Maybe one of these often misdiagnosed autoimmune conditions could explain your mystery symptoms that people haven’t found a diagnosis for quite yet.

 CREST: this is an acronym standing for Calcinosis, Raynaud’s, Esophagitis, Sclerodactyly and Telangiectasia.

  • Calcinosis – refers to calcifications or hardening of the tissue, typically in the finger pads. This could seem like an isolated finger issue or might be mistaken for other autoimmune causes.
  • Raynaud’s – or a blood vessel problem that can cause pain and tissue color changes to the fingers and toes – especially in response to the cold and stress. This can happen alone or in conjunction with many, many types of autoimmunity so it would be harder to pinpoint Raynaud’s from CREST vs other causes. The key is paying attention to these other CREST symptoms and ANA testing to differentiate.
  • Esophagitis: this means inflammation of the esophagus (between the mouth and stomach) and can cause heartburn, reflux, erosions or even cancer of the esophagus. This type of esophagus problem can be mistaken for other causes of reflux or inflammation of the esophagus like food reactions, a loose esophageal sphincter, hernias and more. The difference, of course, would be that these other symptoms are present and that this type of esophagitis is caused by an autoimmune condition.
  • Sclerodactyly – hardening or stiffening of the skin of the fingers and the hand that causes the fingers to curl inward and take on a claw-like shape. This condition can happen with scleroderma (also an autoimmune condition) that is also known as systemic sclerosis. The presence of these other CREST symptoms differentiates between the two conditions.
  • Telangiectasia– also known as spider veins are dilated or broken blood vessels located near the surface of the skin or mucous membranes. They often appear as fine pink or red lines, which temporarily whiten when pressed. What differentiates them from typical spider veins is the presence of other CREST symptoms and an ANA blood test.

Hashimoto’s Disease: This is an autoimmune thyroid condition. Because the antibodies are not tested for very often in primary care offices, we don’t often know whether imbalances in the thyroid – like hypothyroidism or hyperthyroidism – are due to this autoimmune condition or not. The symptoms of Hashimoto’s often overlap with typical hypo or hyper thyroid and without testing for the two antibodies in blood work, there is not another easy way to diagnose it. You can do a thyroid ultrasound and might be able to tell if inflammation or autoimmunity happens based on how the thyroid appears but the true diagnosis is only made by testing for Anti-thyroidperoxidase and Anti-thyroglobulin antibodies. The symptoms of Hashimoto’s Thyroiditis may be indistinguishable from other thyroid problems – hair loss, fatigue, gut trouble, joint pain, etc… The only way to know for sure is to test!

Psoriatic Arthritis: this is a combination of psoriasis (an autoimmune skin condition) and severe joint inflammation (also autoimmune in nature). People are often seen as only having psoriasis or maybe only having rheumatoid arthritis. In a very disappointing number of cases, people are misdiagnosed as having fibromyalgia or just inflammation without knowing that it is an autoimmune condition. Looking for the presence of both body pain and psoriasis is the key to the diagnosis.

Sarcoidosis: This is a disease that causes growth of tiny collections of inflammatory cells (granulomas) in any part of your body — most commonly the lungs and lymph nodes. But it can also affect the eyes, skin, heart and other organs. This can be a common underlying cause of mysterious digestive conditions. This condition is often found after doing a chest x-ray and a blood test for something called ACE – Angiotensin Converting Enzyme. It can cause lung symptoms like shortness of breath, eye inflammation, digestive tract inflammation and more. Sometimes it is missed because all of the symptoms and conditions may be being treated separately and being recognized as being connected by the treating providers.

Take home message – look at how your symptoms are happening and don’t be afraid to push for additional testing or referrals to specialists. Getting a diagnosis can help to understand the best treatments for your specific health needs.

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