Debilitating fatigue syndrome linked to changes to immune cells

Ella Engel spent years without a diagnosis for a debilitating illness that left her with severe levels of fatigue. (ABC News: Adam Griffiths) Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex condition, characterised by debilitating fatigue and a raft of other symptoms. In a recent Australian study, researchers identified cellular differences between healthy volunteers and patients with ME/CFS. The study's authors are now working to validate their research and hope it may one day lead to the development of better diagnostic tools. Link copiedShareShare articleElla Engel spent her late teens and early 20s isolated in her own bedroom. She felt chronically fatigued, in pain and prone to dizzy spells or fainting when she stood up. Ms Engel went eight years without any outside visitors and four years without seeing her own brother, who lived in the room next door, due to her extreme sensitivity of sound, light and touch. Ella Engel, pictured with dad John, was hospitalised multiple times as her condition deteriorated. (Supplied: Ella Engel) In the years leading up to her isolation, Ms Engel met nearly 40 different doctors and specialists, seeking a diagnosis or way to ease the severity of her symptoms. "Every appointment felt like starting over, retelling the same story, answering the same questions," she said. After multiple misdiagnosises, hospitalisations and a surgical intervention later deemed unnecessary, Ms Engel met GP and researcher Richard Schloeffel, who diagnosed her with a very severe form of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). At her most unwell, Ella Engel could only communicate by blinking or wiggling her pinky finger. (Supplied: Ella Engel) Ms Engel is not the only one who has struggled to get answers. There is no single test for ME/CFS and people wait an average of six years for a diagnosis, often missing out on early intervention. Now, eight years on, Ms Engel's blood is helping Dr Schloeffel and a team of Australian researchers learn more about ME/CFS. She and 60 other people with the condition donated blood samples as part of a study recently published in Cell Reports Medicine, investigating whether ME/CFS was associated with biological changes in the body at a cellular level. When compared with blood samples from another small group of healthy volunteers, there appeared to be differences in immune cells and molecules involved in energy production in the blood of people with ME/CFS. "This study provides compelling evidence that ME/CFS is associated with dysfunction across multiple biological systems, challenging its dismissal as a psychological disorder," the researchers wrote. While the small study had limitations and more work was needed to demonstrate ME/CFS caused cellular dysfunction, other experts said the findings were a step in understanding biological processes underlying the debilitating illness. Having more information about biological processes could help researchers develop tests for the condition in the future. Richard Schloeffel, right, diagnosed Ella Engel and was one of the study's authors. (Supplied: Phil Carey) ME/CFS is a complex condition, characterised by extreme fatigue and other symptoms that make it hard to function, such as memory loss, pain, dysfunctional sleep and dizziness. Dr Schloeffel, who has seen about 6,000 patients with ME/CFS over his 46 years as a doctor and now works as a clinical senior lecturer at the University of Sydney, said the condition's hallmark feature was post-exertional malaise (PEM). That is when symptoms worsen following physical or mental activity. It is unclear what causes ME/CFS, but it can be triggered by viral or bacterial infections, injury or environmental exposures. Ella Engel grew up a healthy kid, but her health started to sharply decline after a series of viral infections. (Supplied: Ella Engel) In Australia, about 250,000 people are living with ME/CFS, with women about twice as likely to live with the condition as men. Penelope McMillan, spokesperson for advocacy group ME/CFS Australia, said the true figure of Australians with the condition was about 500,000 if people with long COVID who met the diagnosis criteria were included. But Ms McMillan, who also has ME/CFS, said unless you "almost trip over a knowledgeable clinician" the chances of getting a diagnosis were low. "And that's still not accounting for all the people who never get a diagnosis." Many patients, like Ms Engel, experience a diagnosis of exclusion, where medical professionals rule out other possibilities before considering ME/CFS. "A system that relies on exclusion rather than identification leaves enormous room for error," Ms Engel said. Doctors aren't sure why ME/CFS affects twice as many women as men. (Supplied: German Association for ME-CFS/Sergej Presis) To find out what was happening at a biological level in people with ME/CFS, a team led by Benjamin Heng, a research fellow at

Debilitating fatigue syndrome linked to changes to immune cells

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