Wilson’s Disease

Copper Storage Disease (Wilson’s Disease): Medical History

Medical history (history of illness) represents an important component in the diagnosis of Wilson disease (copper storage disease). Family history Are there any hereditary diseases in your family? Social anamnesis Current medical history/systemic medical history (somatic and psychological complaints). Do you suffer from abdominal pain? If yes, since when? Have you noticed an increase in … Copper Storage Disease (Wilson’s Disease): Medical History

Copper Storage Disease (Wilson’s Disease): Complications

The following are the most important diseases or complications that may be contributed to by Wilson’s disease (copper storage disease): Eyes and eye appendages (H00-H59). Hemeralopia (day blindness). Kayser-Fleischer corneal ring – annular copper deposit at the border between the cornea and sclera; occurs in approximately 90% of patients with neurologic symptoms Sunflower cataract – … Copper Storage Disease (Wilson’s Disease): Complications

Copper Storage Disease (Wilson’s Disease): Examination

A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination-including blood pressure, pulse, body weight, height. Inspection (viewing) Skin, mucous membranes, and sclerae (white part of the eye) [jaundice* ]. Auscultation (listening) of the heart and lungs. Examination of the abdomen (abdomen) Percussion (tapping) of the abdomen [Ascites (abdominal fluid): … Copper Storage Disease (Wilson’s Disease): Examination

Copper Storage Disease (Wilson’s Disease): Diagnostic Tests

Optional medical device diagnostics – depending on the results of the history, physical examination, and obligatory laboratory parameters – for differential diagnostic clarification. Abdominal ultrasonography (ultrasound examination of abdominal organs) – for basic diagnosis [fatty liver?, fibrotic remodeling?, liver cirrhosis?] Electrocardiogram (ECG; recording of the electrical activity of the heart muscle). Computed tomography of the … Copper Storage Disease (Wilson’s Disease): Diagnostic Tests

Copper Storage Disease (Wilson’s Disease): Symptoms, Complaints, Signs

The following symptoms and complaints may indicate Wilson’s disease (copper storage disease): Initially, the disease begins uncharacteristically and develops insidiously only after copper storage capacity is exceeded. Patients complain of preceding phases of fatigue, anorexia (loss of appetite), loss of performance, fatigue, or nonspecific abdominal pain. Leading symptoms Gastrointestinal/liver symptoms. Ascites (abdominal dropsy) Abdominal pain, … Copper Storage Disease (Wilson’s Disease): Symptoms, Complaints, Signs

Copper Storage Disease (Wilson’s Disease): Causes

Pathogenesis (disease development) In Wilson disease, there is a functional impairment of the transport protein for copper ions (ATP 7B). This results in a disturbance of coeruloplasmin synthesis and thus a decrease in copper excretion. Compensatorily, copper is bound to metallothionein in the liver, which in turn leads to the demise of liver cells after … Copper Storage Disease (Wilson’s Disease): Causes

Copper Storage Disease (Wilson’s Disease): Therapy

Regular checkups Regular medical checkups Surgical therapy Liver transplantation (LTx; = causal therapy: especially for fulminant liver failure). Nutritional medicine Nutritional counseling based on nutritional analysis Nutritional recommendations according to a mixed diet taking into account the disease at hand. This means, among other things: A total of 5 servings of fresh vegetables and fruit … Copper Storage Disease (Wilson’s Disease): Therapy

Copper Storage Disease (Wilson’s Disease): Test and Diagnosis

1st-order laboratory parameters-obligatory laboratory tests. Complete blood count [anemia (anemia); leukocytopenia (decreased number of white blood cells (leukocytes) in the blood compared with the norm); thrombocytopenia (decreased number of platelets (thrombocytes) in the blood compared with the norm)] Inflammatory parameters – CRP (C-reactive protein). Liver parameters – alanine aminotransferase (ALT, GPT), aspartate aminotransferase (AST, GOT), … Copper Storage Disease (Wilson’s Disease): Test and Diagnosis

Copper Storage Disease (Wilson’s Disease): Drug Therapy

Therapeutic targets Copper detoxification (copper detoxification). Balanced copper balance Therapy recommendations A distinction is made between initial therapy and maintenance therapy: Initial therapy, i.e. treatment with chelating agents (these form complexes with metals; first-choice therapy), zinc salts* – the aim here is to bring the body into a negative copper balance. Maintenance therapy i.e. treatment … Copper Storage Disease (Wilson’s Disease): Drug Therapy