Sjögren’s syndrome should be viewed as a premalignant disease because patients have a 10% lifetime risk of lymphoma, an Australian specialist says
Associate Professor Maureen Rischmueller, a rheumatologist at the Queen Elizabeth Hospital in Adelaide, says the disease is often seen as an uncommon connective tissue disease in Australia and its risks are under-estimated.
Professor Rischmueller is the lead author of the first Australian Sjögren’s syndrome cohort study in which 172 patients were retrospectively examined to determine their prevalence and clinical associations. The study from the South Australian Sjögren’s Syndrome Research Clinic and Database has shown almost half (48.8%) of patients have glandular involvement and more than half have articular involvement. Cutaneous manifestations such as vasculitis were also relatively common (15.7%).
Other manifestations, most commonly cardiovascular features, Raynaud’s phenomenon, digestive features, dysphagia and neurological features, were reported in 30.2% of patients with Sjögren’s syndrome.
To date, only nine (5.2%) of patients in the SA cohort are known to have developed lymphoma.
Four confirmed cases of congenital heart block and two suspected cases resulting in neonatal deaths were reported in children of patients in the cohort.
“It’s a disease which has been underrecognised and under diagnosed or misdiagnosed for many years, and still is,” Professor Rischmueller told the limbic.
“Many of the patients have been seven, eight and more years with symptoms and without a diagnosis and they feel like they have been fobbed off.”
She said patients were often labelled as an undifferentiated connective tissue disease.
Yet a specific and accurate diagnosis meant they could be treated as an autoimmune disease with systemic complications, with management including the judicious use of immunosuppression and monitoring for associated condition such as lymphoma.
“People aren’t aware that Sjögren’s syndrome has the highest risk of lymphoma development. It’s about a 10% lifetime risk. It’s a premalignant disease really if you look at it that way,” she said.
Associate Professor Rischmueller is encouraging her rheumatology colleagues to enquire about dry eye symptoms in patients presenting with aches, pains and fatigue as many patients had reduced sensation of the cornea or had become used to their symptoms.
“A significant number of patients will have negative serology for Ro and La antibodies and require objective measures of ocular and oral dryness, and salivary gland biopsy, to confirm the diagnosis – currently underutilised in Australian rheumatology teaching and practice,” the study concluded.
A proposed national Australian Sjögren’s Registry and Repository is in the early stages of development.