Anti-inflammatory telitacicept effective for woman with aEDS
Mutation may have triggered immune response that worsened symptoms
Telitacicept, an anti-inflammatory medication, successfully treated a woman with arthrochalasia Ehlers-Danlos syndrome (aEDS), a case study reports.
Researchers speculated the disease-causing mutation that led to defective collagen protein may have triggered an immune response that worsened her symptoms, which were then reduced upon telitacicept treatment.
The case study, “Innovative use of telitacicept in Ehlers–Danlos syndrome,” was published as a letter to the editor in the journal Medicina Clínica.
Ehlers-Danlos syndrome is a group of genetic conditions that affect connective tissues that support skin, joints, blood vessels, and other tissues and organs. EDS is typically marked by unusually mobile joints and soft, stretchy skin.
Arthrochalasia EDS leads to frequent hip dislocations, hypermobile joints
aEDS is a type of EDS characterized by frequent hip dislocations in addition to hypermobile joints, with skin-related symptoms being less common.
Telitacicept is a medication approved in China for active lupus, an autoimmune disorder that affects various organs in the body. It works by reducing the inflammatory activity of immune B-cells that play a central role in driving lupus and other autoimmune diseases.
In this report, researchers in China describe the case of a 36-year-old woman who was successfully treated with telitacicept.
The woman said she had experienced recurrent pain in multiple joints and generalized bruising (ecchymosis) for three years. Her skin was easily bruised, and her wounds did not heal properly after injury.
She had been diagnosed with a left carotid artery aneurysm, a bulge in one of the arteries that supply blood to the brain. For the past year, she had severe osteoporosis, when bones become weak and brittle.
Physical examination confirmed the scattered bruising covering her whole body, and she had stretchy skin on her hands, arms, and neck. CT scans showed a left carotid artery aneurysm, as well as a right carotid aneurysm.
Genetic tests revealed a mutation in the COL1A1 gene, which is known to be associated with aEDS. This gene carries instructions for a portion of type I collagen protein, a primary building block of connective tissue and the most abundant type of collagen in the body. Such a mutation disrupts the normal structure and levels of collagen, thus weakening connective tissues.
Although no other family members shared similar symptoms, the woman’s daughter and father carried the same COL1A1 mutation. Based on these findings, she was diagnosed with aEDS and admitted to the hospital.
Low doses of telitacicept helped to reduce woman’s joint swelling, pain, bruising
Given her serious condition and a lack of effective treatments, she was treated with low doses of telitacicept. After one week of treatment, her joint swelling, pain, and bruising significantly eased. During nearly a year of follow-up, her joint pain and bruising were well-controlled with weekly subcutaneous (under-the-skin) injections of 80 mg of telitacicept.
To explain the effect of telitacicept on aEDS, the researchers speculated that, as type I collagen has been identified as an immune regulatory factor, less collagen density in aEDS allows activated immune cells to cause tissue damage.
In addition, because COL1A1 mutations alter the structure of collagen, the immune system may consider this tissue as “non-self,” much like an infection or cancer. This may have triggered the activation of immune B-cells, contributing to tissue damage, which was ultimately suppressed with telitacicept.
“As this disease is rare, we were unable to obtain a large sample to provide stronger evidence of telitacicept effectiveness, but we would like to share the details of this case to provide a reference for the treatment of this disease,” the researchers wrote.
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