Liver diseases

Inherited and acquired liver diseases

In the field of liver disorders a huge range of rare liver diseases has to be dealt with

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

Viral hepatitis

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:

  • Hepatitis A. Transmission occurs through contaminated food or water or from close contact with someone who's infected. With generally mild symptoms that can be more severe in older adults, it does not become chronic. Prevention is possible and vaccination is recommended when travelling to countries where hepatitis A is common.
  • Hepatitis B. This disease is predominantly transmitted through contact with blood or other body fluids of an infected person, such as from mother to child at birth or sexually. After an acute infection phase it becomes chronic in 5 – 10% of adults and then can cause serious health problems. Treatment is possible as well as is vaccination, which is strongly recommended.
  • Hepatitis C: Infection is transmitted through contact with contaminated blood (blood transfusions before 1991, drug abuse, tattoos). It often becomes chronic (50-85%). Treatment is possible; however there is currently no vaccine available. To our patients we offer the most recent therapies - Dr. Nasser Semmo.
  • Hepatitis D or Delta: Only occurs together with hepatitis B and is often chronic. Treatment is difficult but possible (treatment should take place at our centre). Vaccination against hepatitis B also protects against hepatitis Delta.
  • Hepatitis E: Similar to hepatitis A; it is primarily found on the Indian subcontinent, in the Maghreb region and in Central America but is increasing also in Switzerland. It does not become chronic; however, it is very dangerous for pregnant women. Vaccination is possible and we give our patients the opportunity to receive the latest therapy. Visit our website and find out more about the clinical trials. Further information on Hepatitis E and how the virus is transmitted you find here.

Metabolic liver diseases

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:

  • (Non)-alcoholic fatty liver
  • Haemochromatosis
  • Wilson disease
  • Alpha-1 antitrypsin deficiency

Fatty liver - non-alcoholic fatty liver (NAFLD)

Guideline NAFLD
Guidelines NAFLD - EASL
The fatty liver is quite common: even without risk factors up to 40% of all Europeans have too much fat in the liver, and this is due to life style - the way we eat - the way we move. We eat more, we move less.


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)

Fatty Liver and Metabolism
From healthy to fatty liver

Haemochromatosis - Iron overload

CPGs Haemochromatosis
Haemochromatosis is an inherited disease characterized by an excessive absorption of iron from the diet. The excess iron is mainly stored in the liver. As a result, the liver becomes enlarged and damaged. Patients may develop cirrhosis, diabetes, and have an increased risk of liver cancer.

Wilson disease - copper accumulation

Copper metabolism and disease
Our organism needs copper – but too much is dangerous!

CPGs Wilson Disease
CPGs Wilson disease
Copper is an essential trace element (the third most important one after iron and zinc) of our diet. The average dietary requirement for copper in the adult is approximately 1.5 to 3.0 mg daily.
Copper is absorbed in the intestine, transported to the liver and distributed from there to the other organs. A shortage of copper causes symptoms such as anaemia, delayed wound healing and weakness of the connective tissue.
Excess copper is removed from the organism trough biliary excretion.

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.

Wilson Disease
Kayser-Fleischer corneal ring:
copper deposition in the cornea.
Furthermore, the copper overload may also cause neurological problems in the brain and can manifest itself with neurological or psychiatric symptoms.

We focus on three main categories of problems concerning copper metabolism:
  • A deeper understanding of copper homeostasis
  • Identification of biomarkers
  • New diagnostic techniques for Wilson disease

Copper homeostasis

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.

Wilson Disease

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.

2D Gel
Equipment for high-resolution
serum analysis
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.
In the future, such diagnostic markers are capable of identifying Wilson disease with the help of a blood sample.

Alpha-1 antitrypsin deficiency

Cholestasis and gallstones

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

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:

  • Itching and jaundice
  • Deficiency in fat-soluble vitamins (A, D, E, K)
  • Steatorrhea (fatty stools)
  • Frequent infections
  • Kidney failure

…. 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.

Table: Prevalence of gallstones in the Italian village of Sirmione. In each age group the prevalence is twice as high in women and clearly increases with age.


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.

The following case is a typical example: a 46 year-old patient with diagnosed viral hepatitis developed an elevated alpha-fetoprotein level (tumour marker). Imaging showed a suspicious lesion, which was surgically removed. Now, 15 years after this operation, the patient is doing extremely well.