23-year-old diagnosed with rare autoimmune disease after months of aches and swollen hands

A 23-year-old woman from Liverpool has been diagnosed with anti-synthetase syndrome (ASS), a rare autoimmune condition, after months of body aches, swollen hands and progressive mobility problems that left her unable to raise her arms or walk for long periods.

Tia Rey first noticed symptoms last year, including a spreading rash from her feet, swelling in her fingers and increasing joint stiffness. Her general practitioner initially prescribed topical creams and referred her for dermatology, but her condition worsened while she waited for an outpatient appointment. In November 2024, an injury while moving a sofa drew attention to the extent of the swelling when her boss observed all of her fingers were inflamed. Blood tests in January found elevated alanine aminotransferase (ALT) levels, and she was given an emergency rheumatology appointment that led to an ASS diagnosis.

Anti-synthetase syndrome is a rare autoimmune disorder associated with antibodies that target cellular machinery involved in protein synthesis. It can produce a range of symptoms, including inflammatory myopathy (muscle inflammation), inflammatory arthritis, characteristic changes to the skin of the fingers known as mechanic's hands, profound fatigue and shortness of breath. Prevalence estimates range from about one to nine cases per 100,000 people worldwide.

Rey described progressive loss of function that affected daily activities. "It got to the point where I couldn't put my arms over my head and my partner was having to dress me before work," she said. She also reported severe pain in her ankles and episodes in which her knees "lock". Medical assessment found diastolic dysfunction affecting her heart and mild interstitial lung disease (ILD), a form of lung inflammation that can lead to scarring and breathlessness.

Clinicians have started Rey on corticosteroids and other medications to manage inflammation. Her consultant has suggested rituximab infusions, an immune-suppressing therapy sometimes used in autoimmune diseases to reduce antibody-producing cells. Rey said she is awaiting a decision on whether the treatment will be provided by the National Health Service; a private course can cost around £10,000.

Rey launched a fundraiser in part to cover private treatment costs if NHS funding is not approved, but said the main aims of the campaign are to raise awareness of the condition and to connect with other patients and specialists. She has said any donations would be refunded if the treatment is provided free of charge through the health service.

The diagnosis has affected Rey's mental health as well as her physical health. She said she experienced denial before the reality of limitations set in, that her social and family life changed and that the uncertainty about work, career plans and the possibility of having children has been distressing. "I'm trying to accept the reality of the situation, and I've got to keep a positive outlook," she said. "At the end of the day, I'm still here and it could be worse."

Rey told reporters she had been working three jobs when symptoms began and believes stress contributed to the onset, though the underlying triggers for ASS are not well understood. The National Health Service describes ASS as resulting from an overactive immune response and notes that pulmonary complications such as ILD are among the most serious associated conditions because they can cause irreversible lung damage.

Treatment approaches for ASS vary according to the organs involved and the severity of symptoms. Corticosteroids and other immunosuppressive drugs are commonly used to control muscle and joint inflammation. Immunotherapy agents such as rituximab are sometimes recommended for patients who do not respond adequately to first-line treatments or who have significant lung involvement; such therapies require specialist assessment and, in many health systems, approval for funding.

Rey said she is taking each day as it comes and attempting to adapt to new limitations while continuing to seek specialist care. Her case highlights diagnostic challenges for rare autoimmune conditions, where symptoms can be mistaken for common dermatological or musculoskeletal problems and where delays in specialist assessment can occur while patients wait for outpatient appointments.

Health professionals say early recognition and coordinated care between rheumatology, respiratory and other specialists can be important in managing ASS and reducing the risk of long-term organ damage. Rey has urged others experiencing unexplained persistent joint swelling, muscle weakness or breathlessness to seek medical review if symptoms worsen.

"One thing that has got me through this is learning to appreciate everything around me," she said. "I appreciate life so much more now because you never really know what tomorrow can bring."