Non-Specific Symptoms Lead to Complicated Diagnosis
DDx
English - December 07, 2022 00:00 - 11 minutes - 10.7 MB - ★★★★★ - 335 ratingsScience Education Courses diagnosis medicine science Homepage Download Apple Podcasts Google Podcasts Overcast Castro Pocket Casts RSS feed
It starts small. A slight pain in the foot, followed by an achy shoulder. There's some fatigue. The type of non-specific symptoms that often go ignored … until they can’t be anymore.
A 37-year-old visits the family doctor, complaining of foot, shoulder and chest pain that progresses over weeks. And she's really tired. Otherwise, there’s nothing notable.
She's just a busy parent. Being tired is normal, right?
Sometimes that’s true, but in this case, this would prove to be a dangerous assumption.
She visits her primary care provider who decides to run X-rays. There’s nothing to note other than an expanded area of cartilage at the end of the sixth rib. The doctor doesn’t think much of it at the time, but this would prove pivotal to solving the case.
The patient is prescribed physical therapy, but it doesn’t help. It actually makes things worse.
“She's getting very fatigued to the point where she's having to lay down in the afternoons. She can't really do her full family activities,” shares Dr. Suzanne Jan De Beur, an endocrinologist with a specialty in metabolic bone disorders at Johns Hopkins University School of Medicine in Baltimore, Maryland. “She gets terrible pain … And then eventually she was found to have a left hip fracture and needed surgery to repair the hip fracture.”
This incredible progression — a hip fracture with no trauma at 39 years old — leads to more tests. She’s diagnosed with celiac disease, a wheat allergy that can cause weak bones from not absorbing vitamin D and other nutrients into the bones. This explains the fractures, but not the muscle weakness.
She’s compliant with her celiac therapy, but it keeps getting worse — to the point of needing a walker. This is when the patient sees Dr. Jan De Beur.
It’s at this time that a very small discovery leads to a very big diagnosis.
It also leads to many lessons — one being to not only zoom in on one specific symptom, but to zoom out on a case over time so you can put the puzzle pieces of non-specific symptoms together and find your diagnosis.