Girl with EDS, other disorders endures long diagnostic journey
Child had several incorrect diagnoses before being found to have CNO, arthritis
A young girl endured a long and arduous process as part of an effort to get diagnosed for three co-occurring rare diseases — Ehlers-Danlos syndrome (EDS), chronic nonbacterial osteomyelitis (CNO), and sacroiliac arthritis — but once they were identified the girl was able to get treatment that controlled her symptoms.
Researchers say the girl’s case underscores the importance of careful diagnostic workups and multidisciplinary care for people with co-occurring rare diseases.
The report, “Coexisting Sacroiliac Arthritis and Chronic Nonbacterial Osteomyelitis in an Adolescent with Ehlers-Danlos Syndrome: A Case Report and Treatment Success,” was published in the American Journal of Case Reports.
EDS is a rare disease and getting a correct diagnosis may be a lengthy process. The girl’s diagnostic journey began at age 8 when she was hospitalized due to a broken bone, and was seen at the hospital a few months later due to pain that happened mainly at night and woke her from sleep, but subsided spontaneously.
The girl underwent a yearlong battery of tests, including X-rays, CT, MRI scans and two biopsies of her bones. After a number of incorrect diagnoses, she was transferred to a specialty clinic and diagnosed with CNO, an autoimmune disorder that causes inflammation of the bones.
The girl was treated with disodium pamidronate, a bone-strengthening drug. After two years, her disease was well controlled to the point that she stopped taking the medication, but in 2019 she had spinal pain and limited spinal mobility and her bone-strengthening treatment was reintroduced.
Reaching a classical EDS diagnosis
Over the next few years, she underwent several additional hospitalizations, with the immune system suppressant methotrexate among the medications given to try to control her bone inflammation.
When she was 17, the girl was admitted to the hospital due to pain across her shoulders, spine, and hips. Further diagnostic testing revealed she also had sacroiliac arthritis, a condition marked by inflammation of the joints that connect the pelvis and the spine.
At around the same time, a physical examination revealed she had unusually mobile joints, called hypermobility, and abnormally stretchy skin that hadn’t healed well from previous biopsies. Her doctors said the girl met diagnostic criteria for classical EDS.
The EDS diagnosis didn’t change her treatment regimen and clinicians eventually found a combination of bone-strengthening and anti-inflammatory medicines that effectively managed her symptoms.
The researchers noted it often takes a long time for EDS to get diagnosed, but they emphasized that getting an early diagnosis is important and should be prioritized. “It is essential to quickly establish an appropriate diagnosis to prevent later complications,” they wrote.
The girl’s case also showcases the complexities of dealing with multiple rare diseases simultaneously. It’s critical that clinicians with different specialties work together to provide patients in this type of situation the best care possible, the researchers said.
“The present case illustrates the importance of cooperation between physicians of various specializations, which is particularly important in management of patients with rare diseases, who usually require multidisciplinary consultations,” they wrote.
About the Author
