P Socha et al. JPGN 2018; 334-4. This ESPGHAN position paper makes recommendations for Wilson’s disease. This is a helpful paper, though the AASLD Wilson’s guideline is more comprehensive. A couple of pointers from the JPGN publication:

• The authors recommend molecular testing if available and using liver copper measurement “if molecular testing is inconclusive”
• Screen siblings of any new patients
• Urinary copper excretion in the 200-500 mcg per 24 hours is consistent with adequacy of treatment
• With treatment, liver function tests improve over 2-6 months. “If increased transaminases remain or relapse despite treatment, poor compliance should be suspected.”

Related blog posts:

• Finding the Right Specialist | gutsandgrowth This post has link to AASLD guidelines for Wilson disease.
• Data on Chelators for Wilson Disease | gutsandgrowth
• How Effective is Zinc Therapy for Wilson’s Disease
• “This Is A Stick Up — Your Money or Your Life”

January 2018 -Sunrise in Sandy Springs