‘Show your stripes:’ Rare Disease Day allows patients to share their stories, spread awareness
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More than 300 million people worldwide, including one in every 10 Americans, are living with a rare disease, yet these individuals and their families are often left isolated and without answers.
Each year on the last day of February, the National Organization for Rare Disorders (NORD) recognizes Rare Disease Day, a global initiative to raise awareness and generate support for rare disease patients. This year, it takes place on Feb. 29, which NORD has referred to as “the rarest day of the year.”
“The zebra is the official mascot for rare disease patients,” according to a social media toolkit provided by NORD. “Historically, medical professionals were told that when they ‘hear hoofbeats,’ they should not expect to see a zebra. In other words, look for the more common answer: a horse. Today, we know that 1 in 10 Americans is a zebra. It’s not always obvious to recognize or diagnose a person with a rare disease (a zebra). As a result, this can cause a delay in care and often negatively impacts a person’s quality of life or life expectancy.”
For this reason, NORD encourages participants to share photos on social media with the hashtags #ShowYourStripes and #RareDiseaseDay to potentially start conversations that may help others learn about the prevalence and challenges of rare diseases.
Additionally, the organization runs a campaign called “Light Up for Rare” that allows participants to light up buildings, monuments, landmarks and homes with the official Rare Disease Day colors: pink, green, blue and purple.
In recognition of Rare Disease Day, Healio has gathered the latest news, research and updates in the treatment of rare diseases in the fields of gastroenterology and hepatology.
Achalasia associated with five-fold higher risk for esophageal cancer
Achalasia was associated with an increased risk for esophageal cancer among a cohort of veterans, suggesting the need for increased endoscopic surveillance, according to a presenter at the ACG Annual Scientific Meeting.
“Achalasia is a postulated risk factor for esophageal cancer. The suggested cause of pathophysiology relates to stasis esophagitis,” Eric E. Low, MD, MPH, an internal medicine resident at the University of California, San Diego, said. “Esophageal cancer-associated risk and outcomes in individuals with achalasia have been understudied, and as such, there are no guidelines for surveillance endoscopy for those with achalasia.” Read more.
Mycophenolate mofetil induces remission in nearly 60% with autoimmune hepatitis
Mycophenolate mofetil was superior to azathioprine in achieving biochemical remission in treatment-naive patients with autoimmune hepatitis who were also treated with prednisolone, according to data presented at EASL Congress.
“First line treatment [of autoimmune hepatitis] consists of the combination of azathioprine with prednisolone, and these recommendations are based on clinical trials executed in the ’60s and ’70s,” Romée JALM Snijders, MD, a PhD candidate in the department of gastroenterology and hepatology at Radboud University Medical Center in the Netherlands, said. “Mycophenolate mofetil (MMF) has emerged as an alternative option to azathioprine. ... MMF has shown particularly favorable outcomes in patients intolerant to azathioprine and prospective studies have shown good results and promising results regarding the efficacy and safety of MMF.” Read more.
Vagal nerve stimulation reduces need for rescue medication in gastroparesis, dyspepsia
As-needed vagal nerve stimulation reduced rescue mediation use among patients with nausea related to gastroparesis or functional dyspepsia, according to data presented at the ACG Annual Scientific Meeting.
“Chronic nausea and vomiting are key symptoms of gastroparesis and functional dyspepsia, particularly of the postprandial distress type,” Pankaj Jay Pasricha, MD, MBBS, of Mayo Clinic Arizona, said. “These sensations are relayed to the brain via the vagus nerve, and therefore, modulation of its function via [non-invasive] VNS offers a novel therapeutic approach.” Read more.
Anti-TNF therapy significantly improves growth disturbances in pediatric Crohn’s
Although a substantial proportion of children with Crohn’s disease had growth disturbances at initiation of anti-tumor necrosis factor therapy, “significant improvement” was noted up to 24 months after treatment, data showed.
“It has been noted that growth failure impacts 15% to 40% of those with Crohn’s disease, with some studies showing that up to one quarter of children with Crohn’s disease will not achieve their full growth potential,” Natalia Plott, MD, a second-year pediatric gastroenterology fellow at Riley Hospital for Children at Indiana University School of Medicine, said during a presentation at the Crohn’s & Colitis Congress. “This can unfortunately in turn lead to anxieties that affect a child’s quality of life.” Read more.
AGA releases 10 best practice statements for management of refractory celiac disease
In an expert review published in Gastroenterology, AGA provided updated guidance for the diagnosis and management of refractory celiac disease, including supportive and therapeutic treatment options and recommendations for monitoring.
“This new clinical practice update on management of refractory celiac disease presents a step-by-step clinical approach for patients with celiac disease following a gluten-free diet with persistent or recurrent symptoms and the most up-to-date information about tests and treatments for patients with refractory celiac disease,” Alberto Rubio-Tapia, MD, senior author of the update and director of the Celiac Disease Program at the Cleveland Clinic, told Healio. “This AGA clinical practice update would be very helpful to clinicians to improve care of patients with refractory celiac disease.” Read more.
Anti-reflux surgery for Barrett’s esophagus does not lower risk for esophageal cancer
Patients with Barrett’s esophagus who underwent anti-reflux surgery had an increased risk for esophageal adenocarcinoma over time compared with patients who used anti-reflux medication, according to research.
“Anti-reflux treatment is recommended for patients with Barrett’s esophagus to decrease the risk of esophageal adenocarcinoma,” Johan Hardvik Akerstrom, of the departments of molecular medicine and surgery at Karolinska Institute, and colleagues wrote in Gastroenterology. “Anti-reflux surgery with fundoplication increases the ability of the gastroesophageal anatomical and physiological barrier to prevent reflux and can thus prevent any carcinogenic gastric content from reaching the esophagus, including both acid and bile.” Read more.
Apraglutide reduces parenteral support needs in patients with short bowel syndrome
Treatment with apraglutide resulted in a 52% reduction in weekly parenteral support volume at 1 year among nine patients with short bowel syndrome with intestinal failure and colon-in-continuity, according to data presented at UEG week.
“Since the last decade, disease-modifying treatments for patients with [short bowel syndrome with intestinal failure (SBS-IF)] have been introduced, and these are analogs of glucagon-like peptide-2, or GLP-2,” Astrid Verbiest, a PhD student at the University of Leuven Translational Research Center for Gastrointestinal Disorders, said during her presentation. “These GLP-2 analogs are hypothesized to boost the intestinal adaptation. Teduglutide is the first developed and marketed GLP-2 analog and is a short-acting GLP-2 analog.” Read more.
Elafibranor achieves response, improves pruritus symptoms in primary biliary cholangitis
After 52 weeks, elafibranor achieved biochemical response and improved symptoms of pruritus in patients with primary biliary cholangitis, according to late-breaking data presented at The Liver Meeting.
“There is a high unmet need for effective treatments in primary biliary cholangitis (PBC), a rare and chronic autoimmune cholestatic liver disease primarily affecting women over the age of 40 years,” Christopher Bowlus, MD, chief of gastroenterology and hepatology at UC Davis Health, told Healio. “PBC can lead to cirrhosis and the need for liver transplantation. In addition, patients with PBC experience a significant symptom burden irrespective of the stage of their liver disease. These symptoms include fatigue and pruritus.” Read more.
FDA approves Bylvay for cholestatic pruritus due to Alagille syndrome
The FDA has approved Bylvay for the treatment of cholestatic pruritus due to Alagille syndrome in patients aged 12 months or older, according to an Ipsen Biopharmaceuticals press release.
This approval marks the second rare cholestatic liver disease indication for Bylvay (odevixibat, Ipsen/Albiero Pharmaceuticals), a non-systemic ileal bile acid transport inhibitor originally approved in 2021 for pruritus in all subtypes of progressive familial intrahepatic cholestasis. Read more.
Maternal intestinal, genitourinary infections raise risk for biliary atresia in offspring
Offspring born to mothers with prenatal or third trimester intestinal infection or genitourinary tract infection experienced a significantly higher risk for biliary atresia, according to a study in JAMA Network Open.
“Biliary atresia (BA) is a rare yet devastating hepatobiliary disease that is the primary cause for pediatric liver transplant,” Wei-Hao Wang, MD, MSc, of the Graduate Institute of Biomedical Informatics at Taipei Medical University, and colleagues wrote. “Although substantial research has been conducted, the underlying etiology of BA remains elusive. ... The association of maternal infections during pregnancy with development of BA in offspring is less understood.” Read more.
References:
- NORD. Rare Disease Day. https://rarediseases.org/rare-disease-day/. Accessed Feb. 19, 2024.
- NORD. Rare Disease Day 2024 Social Media Toolkit. https://rarediseases.org/wp-content/uploads/2024/02/NORD-RDD-Social-Media-Toolkit-2024.pdf. Accessed Feb. 20, 2024.
- Rare Disease Day. Join the Countdown: Rare Disease Day 2024 Starts Now. https://www.rarediseaseday.org/news/join-the-countdown-rare-disease-day-2024-starts-now/. Accessed Feb. 19, 2024.
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