Congenital Hepatic Fibrosis

[Peter-Yeates]

  Our five year old daughter has recently been diagnosed with the above disease
  and we desparatley need more information regarding CHF expressly any case histories
  and current research.
  Any help in this area would be greatly appreciated.

[HFHSM.D.-D.M.]

Dear Peter Yeates:
Wow, I can promise you that your question will be one of the more interesting but complicated ones I receive.  First of all , let me say I can only begin to imagine how upsetting it is to you and your wife to find your five year old daughter has been diagnosed with this unusual condition of which I would suspect you had never heard.  
The job you’ve given me is very challenging in that the diagnosis of congenital hepatic fibrosis and what it means is very complex and, in fact, recently hepatologists (liver specialists)  have been redefining the diagnosis.     In addition, the condition even when diagnosed correctly can vary enormously in it’s manifestations.  Some individuals can have the disease there whole life and never have any significant problems.  Other individuals respond very well to a single surgical correction whereas other patients have more complex disease which in some cases can require a liver transplant.  I am hopeful that your daughter has a milder form and I am concerned that I may alarm you about potential complications that your daughter may never get.
The simplest way to think of congenital hepatic fibrosis is that it is a condition in which bands of “fibrosis” or scarring develop in the liver.  The liver by and large functions all right and some patients never develop problems.  Sometimes, however,  the “fibrosis” can make it difficult for blood to flow through the liver easily.  Sometimes there is a backup of pressure in the blood vessels (portal vein) that flow into the liver.  We call this “portal hypertension” and it simply means elevated pressures in the portal vein.  If portal hypertension develops it can cause complications that call for a shunt to be placed surgically to relieve this pressure.  Often patients do very well with this surgery.  
In some cases, congenital hepatic fibrosis can be associated with other conditions or other complications and, to be honest, it would be inappropriate for me to comment on all these other potential problems because they may never involve your daughter.  
The most critical thing is for your daughter to be seen by someone who has experience with this diagnosis because it is relatively unusual.  The best person to consult might be a pediatric gastroenterologist/hepatologist at  a university hospital in your area.  I would certainly invite you to contact me either directly or through MEDHELP.  If you let me know the area in which you live, we may be able to identify an appropriate specialist for you.  We are available at Henry Ford, at [phone].  I hope this answer is helpful to you.  
This response is being provided for general informational purposes only and should not be considered medical advice or consultation.  Always check with your personal physician when you have a question pertaining to your health.  

[melissaob]

A related discussion, Hepititus-c was started.