Wilson disease: TYSK (Questions and Answers)

Wilson Disease: Things You Should Know (Questions and Answers) discusses this rare genetic condition in a question-and-answer format.

The text explains how mutations in the ATP7B gene interfere with copper metabolism, leading to toxic accumulation in the liver, brain, eyes, and other organs. It also highlights alternative names such as hepatolenticular degeneration and copper storage disease.

Topics include liver cirrhosis, jaundice, ascites, anemia, hemolysis, arthritis, osteoporosis, Kayser-Fleischer rings, Sunflower cataracts, infertility, amenorrhea, muscle rigidity, tremors, dysarthria, and psychiatric manifestations such as depression, bipolar disorder, and psychosis.

Diagnostic methods include genetic testing, blood and urine analysis, liver biopsy, CT scan, MRI, and eye exams. Treatment options discussed are chelating therapy, medications that regulate copper balance, and liver transplantation for advanced cases.

This book will interest students, health science learners, and those studying genetics and hepatology who want to understand Wilson disease, its symptoms, complications, and management.