1.What is hepatomegaly? Hepatomegaly is a disorder of copper metabolism that was first described by Dr. Wilson in 1912 and is therefore also known as Wilson’s disease (WD). The disease is autosomal recessive and the causative gene is ATP7B. About 1/90 of the normal population carries the ATP7B mutation, and since patients with hepatomegaly need to carry two ATP7B mutations at the same time, the prevalence of hepatomegaly is about 1/90×1/90=1/8100. 2. What are the clinical manifestations of hepatomegaly? Hepatomegaly is mainly caused by copper excretion disorder, involving the liver, kidney, brain and other important organs. (1) Liver symptoms: Many patients with hepatomegaly come to the hospital because of abnormal liver function found in kindergarten physical examination. Patients diagnosed with hepatomegaly have, after several years, mostly clinical manifestations of significant abnormal liver function or even cirrhosis, but hepatocellular carcinoma is extremely rare. A small number of patients present with progressive splenomegaly, blood tests showing anemia and thrombocytopenia, etc. The symptoms improve significantly after splenectomy. (2) Neurological symptoms The first symptoms of many adolescent patients are tremor of the limbs, slurred speech, difficulty in swallowing, drooling, difficulty in writing and unstable walking. Some patients have choreiform movements or seizures, while a few patients show mental abnormalities, irritability, impulsiveness, hallucinations, etc. 3.Can hepatomegaly be cured? Hepatomegaly is one of the few treatable neurogenetic diseases in neurology, and a low-copper diet is currently advocated, supplemented by drug therapy. Penicillamine is the preferred treatment drug for hepatomegaly, which can promote the excretion of copper in the body, zinc gluconate tablets to reduce intestinal copper absorption, vitamin B6 to nourish the nerves, and vitamin C to promote the efficacy of penicillamine. 4.Is it possible for patients with hepatomegaly to have the next generation? Patients with hepatomegaly can have the next generation. The offspring of patients are usually carriers and do not show symptoms. If the spouse is a carrier of hepatomegaly, there is a 1/2 chance that the child will be a patient. Prenatal diagnosis is currently recommended, with amniotic fluid taken in the third trimester to test for the ATP7B gene, and a professional opinion from a physician can be sought.