For nearly two decades Aimee Wellington battled almost continuous exhaustion and often felt generally unwell and dizzy around her period – but doctors continually assured her there was nothing wrong.
‘I was told it was probably hormones or that I was borderline anaemic,’ says Aimee, 34, a marketing officer from Port Talbot, South Wales.
‘But I always felt exhausted and run down when others didn’t, which made it so difficult to find the energy to go out with friends, meaning I missed dinners and nights out.’
She would also regularly experience brain fog and found her stomach would become so bloated that, for a week or more, she looked eight months pregnant.
Her doctor ran blood tests for vitamin deficiencies and gut conditions, such as coeliac disease, which might explain her symptoms – but they all came back clear.
‘I’d cope at a low level, then the symptoms would build again, so I’d go back to the GP, only to be told nothing was wrong,’ says Aimee.
Three years ago, after spending ‘weeks in bed with what felt like constant flu symptoms’, Aimee returned to her GP.
‘He suggested I was an emotional young woman and that it was all in my head,’ she recalls. ‘I went home and cried. I genuinely questioned myself, asking “What if he was right?”.’
Aimee decided to switch GPs and finally the truth was revealed – she had Gilbert’s syndrome, a little known yet surprisingly common liver condition that affects around 5 per cent of the population. It’s caused by a mutation in the UGT1A1 gene which interferes with how the body processes bilirubin – a yellow byproduct generated by the breakdown of old red blood cells.
‘This gene helps your liver make an enzyme that processes bilirubin,’ says Dr Nadir Abbas, a consultant gastroenterologist and liver specialist with the House of Health private healthcare group in Birmingham. ‘In people with Gilbert’s, the enzyme doesn’t work as efficiently so bilirubin can build up in the blood,’ he says.
Symptoms include jaundice (a yellowing of the skin and eyes), but this is usually mild and temporary. Gilbert’s can also make those affected more sensitive to alcohol, because their reduced ability to process bilirubin puts extra strain on the liver and alcohol then adds to the burden. For some, it can also cause worse hangovers, says Dr Abbas.
‘Many people with Gilbert’s report feeling foggy-headed or generally unwell during flare-ups, too,’ he adds. ‘We don’t fully understand why this happens, but unprocessed bilirubin can cross into the brain, and some research suggests that may help explain the sluggish thinking and low energy people experience during episodes.’
Many also develop bloating, says Dr Abbas, ‘because the bilirubin can reach the large intestine and upset the balance of gut bacteria’.
Symptoms come and go but may ‘get worse when you’re ill, haven’t eaten much, are stressed or after a heavy night of drinking’, explains Dr Abbas. ‘That’s because during illness, or when you’re not eating enough, your body breaks down more red blood cells.’
Symptoms increase as bilirubin levels peak, and ease again once the liver catches up with breaking the byproduct down. In women, flare-ups can especially occur around their period.
The fact that symptoms come and go mean people with Gilbert’s are often dismissed by doctors, says Dr Abbas.
‘Gilbert’s syndrome affects men and women equally – but women are misdiagnosed more often because their symptoms are dismissed as “hormonal”,’ he adds.
‘Fatigue, nausea and generally feeling awful around your period can easily be written off as PMS or anxiety. I’ve seen countless women who have been told it’s all in their head. Often by the time they discover they have Gilbert’s syndrome, their symptoms are frequent, intense and disruptive enough to have a real impact on their daily lives.’
The condition can be diagnosed with a blood test to identify high bilirubin levels.
‘But if blood tests are done when someone with Gilbert’s is not having a flare-up, bilirubin levels may appear normal,’ says Dr Abbas.
However, even during an episode, ‘bilirubin is not always raised to significant levels for clinicians to be concerned. It also depends on the clinicians’ understanding and knowledge around the condition’.
While there is no damage done to the liver, Dr Abbas emphasises that Gilbert’s symptoms can ‘have a real impact on daily life’.
At the other extreme, around 30 per cent of people with Gilbert’s are unaware they have the condition as their symptoms are so subtle they don’t notice them.
In most cases, symptomless or otherwise Gilbert’s syndrome is often diagnosed by accident after a routine blood test for another reason.
Dr Abbas says awareness of the condition needs to improve. ‘If someone has isolated raised bilirubin with otherwise normal liver tests, clinicians should think of Gilbert’s,’ he says. ‘If you don’t look for it, you won’t find it.’
Following her diagnosis in 2023, Aimee says: ‘The more I looked into the condition, the more everything fell into place’.
It brought decades of uncertainty to an end. Aimee had been 12 when she first developed the overwhelming fatigue, nausea, brain fog and episodes of dizziness that would continue to dog her in cycles for nearly 20 years.
‘I would feel a bit better for a while, and then everything would start again’, says Aimee.
Her symptoms ‘interfered with [her] schooling and social life – simply by making things harder than they needed to be’.
Things came to a head three years ago, when her symptoms started worsening. Her vision would blur and she would often feel as though she was about to faint. She thinks this was due to stress.
‘Right before my diagnosis, people kept asking if I’d been on holiday because I looked so tanned,’ she says. ‘I didn’t realise I was actually jaundiced due to bilirubin build-up. My eyes were yellow, too.
‘I was going to the doctors every few months. I’d have a set of tests, those would come back clear, and then I’d be sent for another set. I even paid to see a private GP at one point.’
Doctors told her that her vitamin D was low and she was prescribed a supplement – but it was during a phone appointment with her GP to request a repeat prescription that he suggested the symptoms were all in Aimee’s head.
‘I switched GP surgeries after that,’ she says.
Towards the end of 2023, the new GP reviewed her previous blood tests and spotted that she had consistently raised bilirubin levels.
She was referred for detailed blood tests and liver function tests. In October 2023, Aimee was told her symptoms were caused by Gilbert’s syndrome. ‘For the first time in my life, I felt validated’, she says. ‘I wasn’t imagining things, I wasn’t weak – and I definitely wasn’t emotional.’
There is no treatment for Gilbert’s but managing ‘lifestyle is key’, says Dr Abbas.
‘The best way to prevent visible jaundice is to avoid the things that trigger it,’ he says.
‘Eating regularly is important, as skipping meals can slow the liver’s ability to process bilirubin. Staying hydrated matters, too – as dehydration makes bilirubin levels rise, while drinking enough fluids helps your body clear it more efficiently.’
He says prioritising sleep and keeping alcohol intake within healthy limits are also important.
The main triggers for Aimee are lack of sleep, dehydration, skipping meals and alcohol – but living with the condition can be unpredictable.
‘I can go from being extremely active to barely able to get off the sofa for days at a time,’ she says.
‘I go to the gym six days a week and I love running – but during a flare-up, all of that goes out the window.’
Aimee also suffers with bloating, which is ‘so painful and uncomfortable’, she says. ‘I look eight months pregnant. As well as this, my lips often crack and bleed and I feel achy like I have flu.’
But she can now recognise when she’s going to feel worse.
If her eyes start to yellow, she knows she’s ‘pushed [herself] too far’, she says.
‘When I feel my symptoms creeping in, I sometimes book time off work to accommodate how well I know I’m going to feel after a stressful or high-energy event,’ she says.
Aimee swears by routine. ‘I start winding down at 7pm and aim to be in bed by 10pm, even at weekends. It sounds boring, but if I don’t follow my routine, I know about it the next day.’
Alcohol is now a very rare treat, and Aimee focuses on eating well and takes vitamin D and probiotics after hearing about their benefits on a health podcast.
‘What I find most frustrating is that there is no cure or quick fix. All I can do is rest and wait for it to pass.’
