Genetic liver disease consultation

Titre
Adresse
Adresse

Children's Hospital
Rue willy-Donzé 6
1205 Geneva
Switzerland

Titre
Write us
Adresse

The Swiss pediatric liver center - HUG
Rue willy-Donzé 6
1211 Geneva 14
Switzerland

Titre
FOR EMERGENCIES
Adresse

Switzerland

Barbara Wildhaber
Prof
Barbara Wildhaber
Chief Medical Officer of the Pediatric Surgery Division
Valérie McLin
Prof
Valérie McLin
Attending Physician in the Gastroenterology, Hepatology and Pediatric Nutrition Unit

Description of the consultation

Genetic diseases are characterized by abnormalities in the genome which can be transmitted from generation to generation. Some of these mutations can affect liver function and cause serious, even fatal, illnesses. They can appear early or at an advanced age. An important reality, not only for the patient, but also for his or her family and future descendants.

The consultation consists of a multidisciplinary team, including hepatologists, geneticists and geneticists. It answers questions from the patient, the family and the attending physician about familial liver disease.

What are the goals?

The consultation aims to :

  • establish, confirm or refute a diagnosis of genetic liver disease
  • establish a partnership with the physician, pediatrician or hepatologist treating the patient in the follow-up of the disease
  • inform future parents of the possibilities of diagnosis in case of familial liver disease when planning a pregnancy
  • participate in the follow-up of patients with liver failure.
Who is it for?

The consultation is intended for :

  • people with potentially genetic liver disease
  • people with liver failure
  • adults and children with familial liver disease 
  • parents or future parents concerned about the risk of transmitting genetic liver disease during pregnancy
  • patients with genetic liver disease who wish to discuss diagnostic and therapeutic options
  • physicians confronted with genetic liver disease.
Which services?

The consultation aims to :

  • improve the care of families faced with genetic liver disease through a multidisciplinary approach
  • provide appropriate genetic analyses
  • discuss the risks of transmission and monitor future parents in the event of pregnancy or before the birth of their child
  • provide information on treatments available or under study, and on scientific and therapeutic advances for the genetic disease in question
  • optimize care for liver diseases, particularly rare diseases.
The role of the liver

The liver is a vital organ whose main functions are : 

  • purification, notably of blood
  • synthesis and metabolism of cholesterol and carbohydrates, as well as synthesis of a large number of proteins circulating in the bloodstream
  • storage of vitamins A, D, K and E, and glycogen. The liver also plays an important role in hemostasis (all the mechanisms involved in stopping bleeding).

Referring physicians

For children and young people up to 18:

  • Pre Valérie McLin, Unité de gastro-entérologie, hépatologie et nutrition pédiatriques
  • Dre Géraldine van Winckel, Service de médecine génétique
    T. +41 22 372 18 55 (direct)
    F. +41 22 372 18 60
    Email : Secretariat.Genetique@hcuge.ch

For adults:

  • Dr Nicolas Goossens, Service de gastro-entérologie et d’hépatologie 
  • Dre Géraldine van Winckel, Service de médecine génétique
    T. +41 22 372 18 55 (direct)
    F. +41 22 372 18 60
    Email : Secretariat.Genetique@hcuge.ch
Last update : 07/03/2024

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