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‘Game-changer' new blood test to detect prevalent autoimmune disease without nightmare side effects
‘Game-changer' new blood test to detect prevalent autoimmune disease without nightmare side effects

The Independent

time2 days ago

  • Health
  • The Independent

‘Game-changer' new blood test to detect prevalent autoimmune disease without nightmare side effects

People with coeliac disease may soon be able to avoid consuming large quantities of gluten – the substance that triggers their symptoms – to get a diagnosis. New clinical research published in the journal Gastroenterology has shown a 'game-changer' blood test for gluten-specific T cells that can detect coeliac disease – even when no gluten has been consumed. Currently, people with suspected coeliac are required to eat large amounts of gluten for weeks to get an accurate diagnosis. However, researchers said the new blood test could boost rates of diagnosis, identify patients at risk of severe reactions to gluten and detect silent coeliac disease in asymptomatic people. Coeliac disease is an autoimmune condition where the body attacks its own tissues when gluten is eaten, which prevents normal digestion and absorption of food, with the risk of developing serious health complications. It is driven by eating gluten, a protein found in wheat, barley and rye. An estimated 1 in 100 people have it in the UK. However, only 36 per cent with the condition are clinically diagnosed, according to Coeliac UK. Undiagnosed or untreated coeliac disease can result in complications such as osteoporosis, unexplained infertility, neurological dysfunction and, in rare instances, small bowel cancer, Coeliac UK says. Currently, all coeliac testing methods require regular gluten consumption to be effective, the researchers said. Many people are deterred from seeking a definite diagnosis because they do not want to consume gluten and be sick, the Australia-based scientists added. Associate Professor Jason Tye-Din, Head of WEHI's Coeliac Research Laboratory and a gastroenterologist at the Royal Melbourne Hospital, said: 'There are likely millions of people around the world living with undiagnosed coeliac disease simply because the path to diagnosis is difficult, and at times, debilitating.' 'By eliminating the need for a gluten challenge, we're addressing one of the biggest deterrents in current diagnostic practices,' she added. 'This test could be a game-changer, sparing thousands of people the emotional and physical toll of returning to gluten. It's a major step towards faster, safer diagnosis.' The study evaluated the potential of a blood test to measure an immune marker interleukin 2 (IL-2). In 2019, researchers found this immune marker spiked in the bloodstream of people with coeliac disease shortly after they ate gluten. The scientists used blood samples from 181 volunteers, including 75 people with treated coeliac disease, 13 with active, untreated coeliac disease, 32 people with non-coeliac gluten sensitivity and 61 healthy people. Participant blood samples were then mixed with gluten in a test tube for a day to see if the IL-2 signal appeared. The team was 'thrilled' to find the test could detect the condition with up to 90 per cent sensitivity and 97 per cent specificity – even in patients following a strict gluten-free diet, PhD researcher Olivia Moscatelli, who was diagnosed with coeliac disease at 18, said. The IL-2 signal only increased in the volunteers with coeliac disease, showing the immune response to gluten can be detected in a tube, without the need to consume gluten, researchers said. Ms Moscatelli said the test also performed exceptionally well in people with coeliac disease who had other autoimmune conditions, such as type 1 diabetes or Hashimoto's thyroiditis. The Walter and Eliza Hall Institute team are now collaborating with Novoviah Pharmaceuticals to confirm the test's accuracy across diverse populations and find real-world data.

Bone Metabolism in Celiac Disease
Bone Metabolism in Celiac Disease

Medscape

time28-05-2025

  • Health
  • Medscape

Bone Metabolism in Celiac Disease

When most people think of celiac disease (CD), they understandably associate it with digestive system problems such as bloating, diarrhea, and abdominal pain. The chronic autoimmune disorder, characterized by an abnormal immune response to gluten — a protein found in wheat, barley, and rye— leads to damage of the small intestine when people with the disorder consume gluten. This intestinal damage causes uncomfortable digestive symptoms associated with the disease, but it also affects a very different system: the skeletal system. This is because CD impairs absorption of essential nutrients, including calcium and vitamin D — two nutrients crucial for maintaining bone health. As a result, individuals with CD are at an increased risk for developing metabolic bone diseases, such as osteomalacia, low bone density, and osteoporosis. Thus, prompt diagnosis of the condition, which affects approximately 1%-2% of the global population, is crucial in order to prevent these bone consequences. This also highlights the need for bone screening in those found to have the disease. Importantly, a significant number of patients with CD may present without the classic gastrointestinal symptoms, instead exhibiting extraintestinal manifestations, including bone loss. An impact on bone health has been reported in individuals with CD across a range of ages, including children. Postmenopausal women with the condition are at heightened risk due to associated estrogen deficiency, which further compromises bone density. Older adults with CD are also more vulnerable as bone mass naturally declines with age and is further exacerbated by malabsorption-related deficiencies. Regional studies indicate that the prevalence of CD-associated osteoporosis is particularly high in Europe and North America. A Danish study reported that the risk of major osteoporotic fractures is increased by 37% and of any fractures by 27% in patients with CD. The pathophysiology of bone disease in CD is multifactorial. The intestinal damage caused by the condition results in the malabsorption of vitamin D, which plays an essential role in calcium and phosphate homeostasis and in promoting optimal conditions for bone mineralization. Vitamin D deficiency is common in untreated CD and drives bone loss and can cause osteomalacia — a condition characterized by softening of bones. In children with CD, severe vitamin D deficiency with reduction in phosphate levels can cause rickets. Further, impaired calcium absorption and hypocalcemia triggers secondary hyperparathyroidism— a compensatory increase in parathyroid hormone (PTH) secretion aimed at restoring serum calcium levels. PTH stimulates osteoclast activity, leading to increased bone resorption and, ultimately, a deterioration in bone microarchitecture. Thus, bone impairment may occur even when serum calcium levels appear normal. Systemic inflammation also plays a critical role. Pro-inflammatory cytokines such as TNF-alpha and IL-1 and -6 are elevated in CD and are known to directly stimulate osteoclastogenesis. These cytokines promote bone resorption and interfere with bone formation, further skewing the balance toward bone loss. Hormonal disturbances may contribute to bone disease in CD. Women with CD may experience menstrual irregularities, such as amenorrhea or early menopause, resulting in decreased estrogen levels, a hormone critical for bone preservation. In men, a condition of reversible androgen resistance may occur, reducing the anabolic effects of testosterone on bone. Together, these hormonal imbalances can significantly impair bone density. In light of these risks, it is important to promptly screen patients for CD when they have symptoms suggestive of this condition, or in some patients with vitamin D deficiency who do not respond to usual vitamin D replacement doses, or in situations where a diagnosis of low bone density is made for unrelated reasons, to prevent to prevent long-term complications, including bone disease. The preferred initial screening test in patients suspected to have CD and consuming a gluten-containing diet is the tissue transglutaminase IgA antibodies (tTG-IgA) test accompanied by total serum IgA (to rule out IgA deficiency). If IgA concentrations are low, an IgG based test is indicated. A positive serologic test should be followed by endoscopic duodenal biopsy, which can confirm the diagnosis through findings such as increased intraepithelial lymphocytes, crypt hyperplasia, and villous atrophy. However, the biopsy may not be necessary if the tTG-IgA antibody titer is 10 or more times the upper limit of normal. Human leukocyte antigen testing is sometimes necessary in patients with suspected CD. Importantly, diagnostic procedures must be conducted while the patient is still consuming gluten, as high antibody titers and endoscopic findings resolve on a gluten-free diet. The European Society for the Study of Celiac Disease recommends that, upon diagnosis, individuals aged 30-35 or older with CD undergo bone mass density (BMD) testing using dual-energy x-ray absorptiometry (DXA), particularly if there is evidence of malabsorption, if the diagnosis is delayed, or if there are other concerning risk factors for low bone density. DXA scans should be repeated every 5 years if the initial scan was normal, or every 2-3 years if the initial scan revealed low bone density or for ongoing risk factors for low bone density. The American College of Gastroenterology also recommends DXA screening for low bone density in CD. Children with CD, similarly, should be screened with a DXA scan when there are risk factors for low bone density. Calcium, vitamin D, alkaline phosphatase and PTH levels should be checked at diagnosis and monitored annually (or more frequently in the case of children) until they return to normal. The cornerstone of treatment for CD is strict, lifelong adherence to a gluten-free diet (GFD). Eliminating gluten from the diet allows the intestinal mucosa to heal, leading to improved nutrient absorption and a reduction in systemic inflammation. Numerous studies have demonstrated that adherence to a GFD can significantly improve BMD, with notable changes observed within the first year of dietary compliance. The American Gastroenterological Association emphasizes the critical role of the GFD in both gastrointestinal recovery and the prevention of complications like osteoporosis. In addition to the GFD, patients with CD should receive calcium and vitamin D supplementation to address deficiencies and support bone health. The Canadian Family Physician guidelines recommend routine supplementation and monitoring to ensure optimal levels. Regular BMD assessments are advised as previously discussed to detect early signs of bone loss and monitor the effectiveness of interventions. Physical activity, particularly weight-bearing exercises, is encouraged as it helps to stimulate bone formation and enhance skeletal strength. Patients should be encouraged to participate in weight-bearing (bone loading) exercises, resistance training, limit alcohol intake, and avoid cigarette smoking. In severe cases of osteoporosis, antiresorptive medications such as bisphosphonates may be considered. However, evidence supporting their use specifically in CD patients is limited, and such treatments should be tailored to individual needs. Bone disease is a common and potentially serious complication of CD, often arising from a combination of malabsorption, inflammation, and hormonal imbalances. Early detection and comprehensive management — including implementation of a gluten-free diet, nutritional supplementation, and optimal physical activity, along with routine BMD screening — are vital to preserving bone health and preventing long-term complications in individuals with CD.

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