The diagnosis of rare diseases can be difficult; they may share symptoms with other disorders, many are not well known, and many don’t have specific diagnostic processes. Ankylosing spondylitis acts as an example, and it is important to correctly diagnose a patient with this condition rather than other spondyloarthropathies.
That’s why Dr. Paloma Alejandro, who practices rheumatology at Soto-Raíces Mindful Rheumatix and Medical Research Group gave an interview surrounding the diagnosis of this rare disease. You can read up on it at CodeList.
About Ankylosing Spondylitis (AS)
First, I think we should dive into what AS is. Ankylosing spondylitis (AS) is a disorder that causes inflammation in the spine that may spread to other body parts. Symptoms include inflammation of the hips, eyes, knees, shoulders, and joints of the spine and ribs. This inflammation can make breathing and other movements difficult, and issues with the eyes can lead to vision loss. In a small number of cases, the nervous system, lungs, and heart are affected. In terms of a cause, medical professionals believe that a number of environmental and genetic reasons are behind AS. The exact cause is unknown, but there have been multiple genes linked to the disorder. Biologics and NSAIDs are used to treat AS, but a special diet and exercise routine have both been proven to reduce the symptoms.
Interview with Dr. Alejandro
In an interview with the Journal of Medicine and Public Health, Dr. Alejandro spoke on the diagnostic process for AS. She noted that various tests (e.g., blood tests, CRP levels, erythrocyte sedimentation rate, imaging tests) may be used to rule out similar conditions like lupus or rheumatoid arthritis. An important note that she made centered on imaging tests. She said that even if these tests come back normal, it does not mean that a patient does not have AS. Doctors should order further tests, like MRIs.
Diagnosis is so important as there are viable treatment options for this rare inflammatory condition. If the proper diagnosis is given, then the patient can subsequently receive the proper therapy. This allows them to avoid procedures or medications that won’t help them and can even cause lasting negative effects, with spinal surgery acting as an example.
An Ankylosing Spondylitis Patient Story
Elvin Villegas lives with AS and recounts his experiences in the beginning of his journey. His first disease manifestation was uveitis, which he discovered when he woke up without vision in one eye. This prompted a visit to a specialist, who performed testing to find out what had happened.
After he was diagnosed, Elvin received the correct treatment for his disease. Because of this, he has been able to enjoy a good quality of life over the past ten years, despite still experiencing symptoms. He attributes this to a healthy diet, treatment adherence, and exercise.
This diagnostic process was absolutely necessary for Elvin to live this life. Without the right diagnosis, he could not have gotten the right treatment, which would have led to worse outcomes.