Patients with rare liver diseases often face a long history of endured pain before a proper and accurate diagnosis is made and the real reasons for their diseases are identified. Such patients need a multidisciplinary management of physicians who are familiar and well trained with such rare liver diseases. With a catchment area of several million, we take care of patients with diseases like the Wilson’s disease, genetic cholestatic diseases (PFIC, BRIC), adenomatose, polycystic liver diseases, congenital hepatic fibrosis, vascular liver disease (e.g. Osler`s disease), porphyria, glycogenosis, cystic fibrosis and others. As experts in liver diseases we accept your inquiries and medical assignments which you might please address directly to firstname.lastname@example.org.
Viral hepatitis is an inflammation of the liver caused by a virus. Most cases resolve completely on their own, while hepatitis B and C can become chronic.
Acute viral hepatitis causes jaundice, nausea and marked sleepiness. Most viral infections resolve on their own without on-going liver disease. Patients with chronic disease (i.e. an inflammation which lasts longer than six months) sometimes feel tired, but chronic hepatitis is often only recognized by appropriate laboratory tests. There are five different viruses, which are responsible for most forms of viral hepatitis:
The most common metabolic liver diseases are life-style related diseases such as (non)-alcoholic fatty liver. We will also describe some congenital metabolic disorders.
We use the term “metabolic liver disease” if the metabolism in general or specific metabolic pathways - through inherited or acquired disorders – cause liver diseases. The most common metabolic diseases are:
Fatty liver mostly causes no complications; however, in certain cases it is associated with liver inflammation (non-alcoholic steatohepatitis or NASH) and can lead to cirrhosis and liver cancer. Obesity increases the risk of developing non-alcoholic fatty liver disease (NAFLD)
Copper metabolism and disease
Our organism needs copper – but too much is dangerous!
In Wilson disease, which is a rare inherited disease (1 of 30’000), the liver is unable to excrete excess copper, resulting in copper accumulation in the liver and in the brain, which eventually leads to liver failure and death if untreated.Furthermore, the copper overload may also cause neurological problems in the brain and can manifest itself with neurological or psychiatric symptoms.
There are special molecular mechanisms of copper uptake and transport. In humans these are the transport proteins of the Ctr-family and the evolutionary conserved copper-transporting ATPase (adenosine triphosphate).
In the cytoplasm, special proteins, the so-called copper-chaperones, immediately bind the absorbed copper. Further specific transport routes take care of transferring the copper to other cell components or introduce it to copper-containing enzymes. If there is an excess of copper, it will be eliminated from the cells.
Most proteins involved in copper metabolism are highly conserved and have developed on a very early evolutionary basis. Thus, the components are the same in bacteria, plants and in humans. We are studying the molecular mechanisms of copper metabolism in two bacterial model systems, i.e. in Enterococcus hirae and in Lactococcus lactis.
Diagnosis of Wilson disease
A conclusive diagnosis of Wilson disease is often not easy and usually requires liver biopsy. In order to develop a simple diagnostic method we are looking for other markers of this disease.Therefore we analyse the blood serum composition of Wilson disease patients by high-resolution serum analysis using the latest technology. Hence, hundreds of components of the serum can be measured and it is possible to identify those, which are specifically altered due to M. Wilson disease.
The bile plays an important role in the elimination of medications, poisons, heavy metals and cholesterol. If biliary excretion does not function properly then cholestasis (disturbance in bile formation) and/or formation of gallstones can occur.
Cholestatic liver diseases are the result of autoimmune diseases, medications, tumours of the pancreas or bile ducts, gallstones or certain congenital metabolic diseases.
Characteristics and consequences:
…. if left untreated, this eventually leads to portal hypertension and liver failure.
Gallstones are a common disease of modern civilization and affect twice as many women as men.
Benign tumours of the liver are common and harmless. However, in a cirrhotic liver, the context is different and liver cancer occurs.
Through modern imaging technologies, such as computer tomography, magnetic resonance imaging and ultrasound, it is often possible to detect tumorous lesions. In most cases these are benign malformations, such as haemangiomas (strawberry marks), cysts or focal nodular hyperplasia (FNH,) a benign tumour of the liver. For these tumours an appointment with an experienced hepatologist is recommended. He or she will help to put your mind at ease, and thus avoid unnecessary half-yearly examinations. However, the situation is different for patients with liver cirrhosis as those have a slight but measurable risk of developing hepatocellular carcinoma (HCC). If you fall into this category your doctor will propose the necessary preventive medical check-ups. Hepatocellular carcinoma can be cured – if detected early.