Caroline King
A woman who lost nearly a foot in height after being diagnosed with a rare liver disease has shared her story to encourage others to “never give up”.
When Caroline King63 years old, from Wiltshire (United Kingdom), consulted an ophthalmologist because his eyes were irritated, he had no idea that this would be one of the first symptoms of a potentially fatal liver disease.
Now, he speaks publicly about his experience with granulomatous hepatitis to raise awareness about rare liver diseases and the impact they can have.
“I still can’t believe what happened and that I’m still here,” he told the BBC.
Before undergoing a liver transplant, his symptoms were so severe that he had to use a wheelchair after suffering from extreme fatigue and mental confusion.
“One case every ten years”
King’s story began in 2018, when, at home, watching television, his vision became “irritated” and blurred.
“I thought: This is really, really weird,” he said. An ophthalmologist later diagnosed an inflammatory condition affecting part of the eye.
In 2019, after her eyes and skin turned yellow, a liver biopsy revealed granulomatous hepatitis, which doctors say is so uncommon it may only exist one case every ten years.
King waited six months for a transplant. During this period, a osteoporose grave in the spine, caused by the medication, caused its height to drop by about from 1.63 to 1.37 meters.
Six years later, both his eyes and liver function are under control, and his height has reached 1.52 meters. He told the BBC that his message to people is to “never give up”: “The human body is incredible,” he added.
According to the British Liver Trust, thousands of people in the UK live with rare liver diseases, many of which can take years to diagnose due to a lack of awareness and limited research. Pamela Healy, chief executive of the British Liver Trust, said that although these diseases “may be less common” they could have a “transformational” impact.
“Often, a lack of awareness leads to late diagnoses and unequal access to specialized care,” he added.
“We need greater understanding, earlier diagnosis and continued investment in research to ensure no one living with a rare liver disease is left behind.”
Granulomatous hepatitis is an inflammatory pattern of the liver characterized by the presence of granulomas (small organized aggregates of immune cells) in the liver tissue. Among the most frequent causes are sarcoidosis, tuberculosis (globally), primary biliary cholangitis and drug-induced liver injury; it can also occur in fungal infections, Q fever, and sometimes with no identifiable cause (idiopathic).
Many people have no symptoms and the finding appears in altered analyses, especially an increase in alkaline phosphatase and other cholestasis enzymes. When symptomatic, it can manifest itself as prolonged fever, fatigue, weight loss, pain in the right upper quadrant and hepatomegaly; jaundice is less common.
What is a rare disease
Caroline King is one of about 300 million people in the world who live with a rare condition.
According to the World Health Organization (WHO), a disease is considered rare when it affects up to 65 people per 100,000 inhabitants (1.3 per 2,000). In general, they are chronic, progressive and disabling, and receive little interest from the pharmaceutical industry due to the low number of patients.
