Wilson Disease Is a Single-Gene Disorder, Study Confirms A recently published study supports the notion that Wilson disease is a single-gene disorder.

A new study published in @jhep-reports.bsky.social supports the notion that #WilsonDisease is a single-gene disorder.

Learn more: https://bit.ly/4bPBCMP

#RareDisease #GeneDisorder #MedSky

Iron Overload Found in Pediatric Wilson Disease After Long-Term Chelation A new study shows iron overload occurs in around half of patients with Wilson disease, particularly with longer chelation and lower exchangeable copper.

Iron overload occurs in approximately half of patients with #WilsonDisease, particularly those with a longer duration of chelation therapy and lower exchangeable copper. Study in Journal of Clinical and Experimental Hepatology.

Read more: https://bit.ly/3MiGVuk

Traditional Chinese Compound Gandouling May Reverse Liver Fibrosis in Wilson Disease A compound used in traditional Chinese medicine inhibits the sinusoid capillarization associated with liver fibrosis in Wilson disease, a study shows.

#Gandouling may inhibit #LiverFibrosis in #WilsonDisease by severing the cellular communication between hepatic stellate cells and sinusoidal endothelial cells and preventing sinusoid capillarization. Study in Pharmaceuticals.

Read more: https://bit.ly/4r3UyN0

#RareDisease #MedSky

Tyrosine Dysregulation: A Potential New Biomarker for Newborn Wilson Disease Screening Researchers found that tyrosine metabolism dysregulation is an early feature of Wilson disease, with potential diagnostic implications.

Tyrosine metabolism dysregulation is a potential early feature of #WilsonDisease, and the identified metabolites show high diagnostic potential as promising biomarkers for #NewbornScreening. Study in Orphanet Journal of Rare Diseases.

Read here: https://bit.ly/4sWUCiM

#RareDisease #MedSky

Novel Decoppering Cellulose Holds Promise for Wilson Disease A novel modified microcrystalline cellulose-based adsorbent holds promise as a potential therapeutic for Wilson disease.

A novel modified microcrystalline cellulose-based adsorbent holds promise as a potential therapeutic for #WilsonDisease. Study in International Journal of Biological Macromolecules.

Read more: https://bit.ly/4k1QFpf

#RareDisease #MedSky

#TLM25: Michael Schilsky, MD, an expert on Wilson disease and professor at the @yaleschoolofmed.bsky.social, speaking Nov. 10 at the @aasldnews.bsky.social 2025 conference in Washington, D.C.

Image & quote taken by Senior Correspondent, Larry Luxner.

#RareDisease #Hepatology #WilsonDisease

#TLM25: “Andrew Grimm, MD, PhD, vice-president of global clinical development for inborn errors of metabolism at Ultragenyx. Dr. Grimm spoke Nov. 10 during @aasldnews.bsky.social 2025 at a panel about #WilsonDisease.

Image & quote taken by Larry Luxner

#RareDisease #Hepatology #GeneTherapy

#TLM25: Alice Williams, director of the Wilson Disease Association’s Canada chapter. Williams, who has two children with Wilson, spoke Nov. 9 at @aasldnews.bsky.social 2025 in Washington, D.C.

Image & quote taken by Senior Correspondent, Larry Luxner

#RareDisease #Hepatology #WilsonDisease #MedSky

👨‍⚕️ @anandvkulkarni.bsky.social et al. reported that of the 156 patients with Wilson disease, pediatric patients more often presented as ALF/ACLF with lower TFS than adults. 54% of patients had pathogenic/likely pathogenic ATP7B variants.
🔗 ow.ly/YTUp50Xm89W
🏷️ #GITwitter #WilsonDisease

Rare Case Highlights Kidney Complications in WD WD can cause severe and potentially reversible renal injury through several mechanisms, including direct copper-induced tubular toxicity.

#WilsonDisease (WD), though primarily a hepatic and neurologic disorder, can cause severe and potentially reversible #RenalInjury through a variety of mechanisms, including direct copper-induced tubular toxicity.

Read more: https://bit.ly/48Wlxnu

#RareDisease #MedSky #RareSky

Attended the Wilson Disease Association's Annual Conference where patients and families, clinicians, researchers, & industry are united by one goal: improving the lives of those affected by Wilson disease 🩺 💙 A collaborative community!

#WilsonDisease #WDAConference #RareDiseaseCommunity

Treatment for Wilson-Konovalov disease #liverhealth #livercirrhosis #wilsondisease #cirrhosis ... Continue to: www.youtube.com/watch?v=ylhe...

People with Wilson disease #wilsondisease cannot release copper from the liver at a normal rate. This genetic condition can cause life-threatening organ damage if left untreated. Learn more at our upcoming webinar with Dr. Robert G Gish. Register at livercoalition.zoom.us/webinar/regi...

PROSPECTIVE SCREENING OF WILSON DISEASE IN PRIMARY SCHOOL CHILDREN USING SPOT URINE: AN UNFORESEEN SUCCESS IN CASE DIAGNOSIS IN A PILOT STUDY
A. M.-K., Belaramani, K. et al.
Paper
Details
#ProspectiveScreening #WilsonDisease #PediatricHealth

Diagnosing #WilsonDisease in #AcuteLiverFailure

✅ ALF of unknown ethiology
✅ If low ALT, measure total serum copper
✅ If s-Cu-ALT = 2 or more ASSUME WD
✅ While LTx is prepared, perform genetic testing

Recent work by our group from Aarhus University Hospital

Excited to see what BlueSky can offer in the #LiverTwitter field.

I hope to join the discussion on #WilsonDisease and share our results here going forward.

Viktoria Iwan presents her study on gene editing for #Wilsondisease at poster WED-351 at #EASLCongress.

Wilson’s Disease is a rare genetic disorder that causes excessive copper build-up, mainly affecting the liver, brain, and eyes. #wilsondisease

Learn more at: wilsondisease.org

You may be rare, but you are not alone!
#rareDisease #rareDiseaseAwareness

Elevated Copper Blood Levels: 04/30/2024 at 232 H; 11/11/2024 at 232 H; 12/20/2024 at 184 H. MPV Levels: 12/09/2022 at 10.6; 02/19/2025 at 9.3. This is at the lowest range of normal, but there also was a “low” icon listed next to it. eGFR Levels: 12/04/2023 at 92; 12/09/2023 at 96; 04/29/2024 at 79; 12/20/2024 at 65; 02/19/2025 at 79. This has never been brought to my attention, but it indicates decreased kidney function and possible stage 2 chronic kidney disease.

I’ve had elevated blood copper levels for 10 months & ruled out #wilsondisease, slightly decreased MPV levels over the last 3 years, and my eGFR — kidney function — apparently has toggled between stage 2 and 3 of chronic kidney disease and nobody brought it to my attention!!! 🤩 /s

Boost Your Mood and Brainpower with Essential Nutrients!

#BrainHealth #NutritionalScience #MoodBoosters #MentalWellness #HealthyMind #Nutrients #Calcium #Zinc #Copper #Iron #Selenium #Iodine #Chromium #WilsonDisease #Neuroplasticity #CognitiveDevelopment #HealthyLiving

youtube.com/shorts/Ad3Q7...

Today is Wilson Disease Awareness Day! It’s a rare genetic liver disease (1 in 30,000) that impairs the body’s ability to process copper. It’s highly treatable, but imperative to get diagnosed early. #Wilsondisease

New Podcast Alert! 🚨
This week I discuss Cuvrior, the groundbreaking treatment for Wilson disease. 🌟

If you or someone you know is affected by Wilson disease, this is an episode you don’t want to miss!🎧

drgisheverythingliver.libsys.com

#WilsonDisease #Cuvrior

New in the main journal, neuroimaging changes in patients Wilson disease. Myelin or white matter in general seems vulnerable to low-level copper toxicity, with WM volume loss showing promise as a marker for assessment.

https://doi.org/10.1002/jimd.12814

#wilsondisease #neuroimaging

It’s a wrap for our 2023 @OHIOLIVER liver update. Join us in 2024 for a packed schedule of events including Tavill citywide liver rounds, single topic webinars on #PBC and #Wilsondisease, academic debates and our liver life walk
#livertwitter