Prompted by a comment I received a few weeks ago from a great-grandmother in North Carolina concerning her 2 1/2 year old great-granddaughter, I want to bring attention to a rare condition called Abernethy Malformation.
Congenital absence of the portal vein called a portosystemic shunt (aka Abernethy Malformation or liver shunt) causes blood to drain away from the portal system, and in turn the blood bypasses the liver. In more recent findings however, there is new evidence which seems to point to the portal vein as being so tiny it does not present itself in regular testing (ultrasounds, cat scans and MRI’s), but shows up through radiologists entering into the jugular vein and making the discovery through that method. Any blood that does bypass the liver and does not get filtered through it can cause toxins to enter the blood stream which may affect the normal function of the brain. One such effect, common to portal hypertension patients is called hepatic encephalopathy.
I was first made aware of abernethy malformation when I began this blog a few years ago by Chris B., a mom from Minnesota whose daughter Maddi had it. At that time I had promised Chris I would write about the condition for my blog, but to be perfectly honest I did not know enough about it nor had I come across anyone else with it, until just recently and so like many other things I unfortunately put it in the back of my mind. Prior to that Chris started her own blog on the condition and because of that has been able to help several families (numbering 16 in total) whose children also have been faced with the challenges of the disease. Coincidentally Dr. Superina who is mentioned several times in this blog for his work with portal hypertension children, contacted Chris personally to say that her information was not correct and that he could help in the situation. Through extensive testing Dr. Superina and his team of radiologists are credited with discovering that Maddi’s portal vein was indeed there but very tiny, and she did have a chance of being cured! (Maddi is now 9 years old now, and is doing great. She will be in Chicago soon for a follow-up appointment with Dr. Superina). So the question prevails … are there others out there who have been diagnosed with abernethy malformation and the portal vein is so small it does not show up on regular scans, or maybe their portal vein really is missing?
Here is the link to Chris’ blog where you can read Maddi’s story and obtain valuable insight into Abernethy Malformation: http://abernethymalformation.blogspot.ca/
Maddi and children such as her with this condition and of course portal hypertension need our prayers. I am thankful and I know of many other parents who are also thankful for the dedicated work of Dr.Superina in Chicago in the area of portal hypertension and also Abernethy Malformation. If you have just received the disconcerting news that your child has either one of these conditions I encourage you to seek his help (see below) if you have exhausted all means for finding a solution in your part of the world.
2300 Children’s Plaza
(707 W. Fullerton Ave.)
Chicago, IL 60614-3363
Call 1.800.543.7362 (1.800.KIDS DOC)
My daughter, age 45, was diagnosed with missing portal vein when she was in her early 20’s. No reason for her condition has ever been found. She seems to do well with her condition at this time, but I am concerned that as she ages it will cause major problems. Is there a treatment other than liver transplant that may help her at this age. Any information that you may share with me would be greatly appreciated. Jennifer Miller
Thanks for visiting this site and posting. I am sorry to hear of your daughter’s condition, and I do hope a reason will be found for this. Other than a liver transplant, I am sorry I have not heard of any fix for this except for children, but with that I would not give up. I highly recommend that you pursue speaking with Dr. Superina in Chicago at Lurie Childrens Hospital (see below). He does see adults and there was even an offer to review my case at one point a few year’s ago. With a clotted or as in the case of your daughter a missing portal vein, the smaller vessels around the portal vein take over the blood supply and direct blood flow to the liver in most cases, however there are several complications that can occur from the engorgement of blood to these same vessels. One can function for a long time, as in the case of your daughter and I may add myself, but the impending danger to bleed, especially if there are varices involved, is very real.
Riccardo Superina Dr., MD
Lurie Childrens Hospital
225 E Chicago Ave
Chicago, IL 60611
I hope and pray that your daughter gets some answers and her health improves. Please keep me posted.