Liver Disease Initially Misdiagnosed as Menopause for Patients

Approximately two decades ago, when Gill Rich experienced “under the skin” itching and body aches “all over,” medical professionals attributed her symptoms to menopause. Ms. Rich, now 71 and residing in Bingham, Nottinghamshire, sensed that something more serious was amiss, describing days of such profound fatigue that she felt as though she was “walking through treacle.” Roughly six months following her initial visit to a general practitioner, another doctor informed her that she had “something the whole surgery had never heard of.” At the age of 50, she received a diagnosis of primary biliary cholangitis (PBC), a rare and incurable liver disease characterized by inflammation of the bile ducts within the organ. According to the NHS, PBC can manifest as painful joints and bones, severe itching across the body or in specific areas, a dry mouth, and fatigue. The National Institute for Health and Care Excellence (NICE) reports that approximately 25,000 individuals in the UK live with PBC, with women accounting for about 90% of these cases. Upon her diagnosis, Ms. Rich stated that she exhibited nearly all the symptoms. She recounted, “I would plunge my feet into a bowl of ice cold water and that would sort of change the mindset, dealing with the itch.” She added, “Or my arms – I would sometimes scratch them so much, particularly during the night, I would draw blood.” However, due to the “invisible” nature of the condition and her lack of acquaintance with anyone else who had it, Ms. Rich largely kept her diagnosis private. She explained, “How do you say to somebody I’m walking through treacle, I’m really fatigued, my bones hurt – when I looked fine?” After years of feeling “quite isolated,” Ms. Rich contacted the PBC Foundation, a charity supporting individuals with the condition. She subsequently met a fellow patient who had established a peer support group in Nottingham. Wendy Wheat, 53, from Arnold in Nottinghamshire, founded the support group after her own diagnosis in 2012. However, Ms. Wheat endured a prolonged period of five years marked by misdiagnoses, during which she struggled with what she described as “debilitating” fatigue and a persistent itch on the arches of her feet, before finally receiving accurate answers. Ms. Wheat recalled, “My liver function tests were off the charts, is what they said to me, but all they kind of asked me was how much I drank.” She mentioned being questioned about her alcohol consumption on multiple occasions and, at one point, was told “everyone gets tired” when she described her fatigue to a doctor. “Doctors made me feel like I was going mad,” she stated, adding, “It affected my daily life massively.” Similar to Ms. Rich, with whom she developed a close friendship, Ms. Wheat also suffered from an unyielding itch. She described, “There was no relief from it, my feet were itching all the time, I couldn’t do anything.” She continued, “I used to go to work and go to the toilet to scratch them. I used to be driving and wanted to pull over to scratch them – I even took a knife to them a few times.” While managing a full-time job and caring for her school-aged children at the time, Ms. Wheat said she was “dragging [herself] around.” Since their respective diagnoses, both women have continued with “limited treatment” and have learned strategies to manage their symptoms, some of which have diminished or altered over time. Despite undergoing treatment, both continue to contend with fatigue. There is now optimism that a new daily medication could benefit thousands of patients afflicted with the disease. On Tuesday, NICE, the body responsible for recommending medicines for use within the NHS, endorsed a daily pill for individuals with the disease, named Elafibranor. NICE indicated that this medication is expected to enhance liver function by decreasing bile acid production and liver inflammation. The organization specified that Elafibranor would be suitable for patients who have not responded adequately to the existing treatment, ursodeoxycholic acid. A NICE spokesman commented: “We are very pleased to have been able to recommend this new daily pill for people with primary biliary cholangitis, a type of chronic liver disease.” He further stated, “This is a rare condition which can have a significant impact on quality of life, with symptoms including bone and joint aches, fatigue and itchy skin.” The spokesman concluded, “There are limited treatment options to help people manage the disease, particularly if it has not responded well enough to ursodeoxycholic acid (UDCA), or if UDCA can’t be tolerated so the recommendation of Elafibranor is good news for patients.”