Early detection highlighted in this year’s Rare Liver Diseases Month
Global Liver Institute's #RareAware campaign urges awareness
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February is Rare Liver Diseases Month, and this year, the Global Liver Institute (GLI) is highlighting the importance of early diagnosis for better health outcomes.
“Every patient deserves answers sooner,” Larry R. Holden, president and CEO of GLI, said in an organization press release. “Early detection requires more than awareness; it requires health systems, policymakers, and communities to work together so that once a symptom is noticed, patients receive timely care, testing, and referrals. Bridging these gaps, we give hope and support to patients worldwide.”
Under the theme “Early Detection Drives Direction,” this year’s #RareAware campaign aims to spread the message that overlooked or misattributed symptoms of rare liver diseases can result in delayed treatment and inadequate outcomes at increased expense.
GLI says rare disease patients often make up to 17 medical visits before a diagnosis, and one in three adults with unexplained liver disease is diagnosed via genetic testing. Delayed diagnosis can lead to up to $517,000 in avoidable costs per patient, according to the organization.
The challenge in early and accurate diagnosis of rare liver diseases is the relatively nonspecific symptoms displayed, including fatigue, itching (pruritus), and abdominal discomfort, which can be misattributed to stress, allergies, or general illness.
Pinpointing the cause
Several rare liver conditions are chronic and potentially life-threatening, so it’s imperative to get the correct diagnosis and start appropriate treatment.
“Together, we are empowering patients, caregivers, and allies to talk about their symptoms loudly, ask the hard questions, and bring rare liver diseases into conversations where early recognition can begin,” GLI says on its campaign webpage.
Cholestasis, or diminished bile flow from the liver, can result from rare liver diseases, including progressive familial intrahepatic cholestasis, biliary atresia, Alagille syndrome, and primary biliary cholangitis. Pruritus is reported by 80% to 100% of people with cholestatic liver diseases.
GLI is providing a social media toolkit for advocates to craft messages that raise awareness, educate, and engage the rare liver disease community. Available graphics display information on liver function, necessary lab tests, genetic testing, and how government policies can change patient care.
The organization invites the community to follow and engage on Facebook, Instagram, LinkedIn, and YouTube using the hashtag #RareAware.
Additional resources, including liver health basics and an overview of the global state of liver health, are also available for download.
Initiatives focused on early detection of rare diseases and improving outcomes are being rolled out worldwide, GLI said. These include the Rare Disease Evidence Principles introduced in the U.S. last year to enable earlier access to therapies for rare diseases.
In the European Union, the five-year SCREEN4CARE initiative, launched in late 2021, aims to expand newborn genetic testing to improve diagnosis of rare diseases, as more than 70% have a genetic cause and nearly 90% of these affect children.
As healthcare systems worldwide continue to develop and national policies are proposed, GLI intends to keep rare liver diseases in the discussion.
The organization is participating in Rare Disease Week on Capitol Hill Feb. 24-26. The free event, hosted by the EveryLife Foundation for Rare Diseases, brings together advocates from across the country to meet with members of Congress. Rare Disease Day is celebrated every year on Feb. 28.
Elsewhere, the American Liver Foundation is offering virtual events for caregivers, patients, and liver transplant recipients.
