Nodular Regeneration Hyperplasia diagnosis (NRH) Diagnosis

[Worriedmamabear]

hello well it looks as though the original cirrhosis comment was premature it looks like it is NRH a couple of more tests 3 phase CT liver scan and they want to wash out his lungs to get a sample, it appears they think it is secondary to another issue that he might have.

my son is 28 and was diagnosed when he was a toddler with xla (X-linked agammaglobulinemia) basically cannot fight infection so has been on weekly immunoglobulin infusions that have kept him healthy and infection free until his trouble started January 2017

we don't know prognosis, treatment ect I thought it best to wait till 2nd appointment when all tests have been done rather than overload our brains!

has anyone had any experience with NRH he is still suffering from the side effects of the ascites.

at least we are one step closer to a final diagnosis - not sure if this is a better or worse result than cirrhosis?

thanks

[M8118]

I was diagnosed last month with NRH. As you’ve probably learned by now, autoimmune issues are one of the potential causes. Mine happens to be idiopathic (ie they have no idea why I have it).

Some of those with NRH develop portal hypertension and the resulting decompensating effects that one would have as if they had cihrosis. Sounds like that is what is happening for your son. So the issue is that the individual more or less can have a functioning liver (a good thing) but blood flow issues lead to ascites and varices which, if untreated, can be a real risk.

Some people end up on regular routines of endoscopies with varices banding and ultrasounds to monitor ascites. Some require shunts to reroute blood flow and relieve pressure. Transplants are required in extreme cases.

If the underlying cause of the NRH is autoimmune related or from blood coagulation issues, there may be some medical treatments to help mitigate the issue. Otherwise, there are really no treatment options.

I found this piece helpful

ncbi.nlm.nih.gov/pmc/articl...

[Worriedmamabear in reply to M8118]

thank you for the reply, yes that seems to be what is happening..... How are you keeping now? - can i ask hold old you are and if you are managing to work ?

we are going to get him signed off for a further 4 weeks to allow for the additional tests they want to do, but what then - he has had 2 bouts of ascites so far this year and it looks as though we will need to be drained again later this week?

he is keen to get back to some sort of normality he is only 28 and has been off work most of 2017 and this year so far. Is this something that will " never go away?" and we need to manage the symptoms ?

thank you again

[M8118 in reply to Worriedmamabear]

I'm mid-30's.

My recent diagnosis followed about 5 years of abnormal bloodwork (elevated ALT/AST but otherwise normal liver-related labs). Ultrasounds along the way indicated what doctors thought might be a non-alcoholic fatty liver. MRI suggested the same. Ultimately the biopsy showed no fatty liver and only mild fibrosis... but most significantly the diagnosis of NRH.

I've not had ascites (as determined by Ultrasound) and there's no suggestion of any varices at this point (last endoscopy was also about 5 year ago and was normal). I'll be seeing a hematologist to track down any potential blood abnormalities and then the 'super specialist' (i.e. hepatologist) in a few weeks. I'm hoping that is the end of it and I can resign myself to a regular schedule of labs, endoscopies and ultrasounds to monitor the disease, and then I'll do what is best for overall liver health - zero alcohol, daily workouts, low sodium/healthy diet, etc.

Aside from treating any coagulation issues or autoimmune issues, there is no treatment for NRH itself. Treatment appears to be isolated to managing the ascites and varices, if they develop. If those issues become too extreme, shunts or transplant could become options that would be considered, similar to someone with bad cirrhosis-related portal hypertension. One case I found was an individual also diagnosed in mid twenties who had a shunt after year of varices and ultimately a massive stomach bleed. The shunt greatly improved his quality of life and he was able to return to a decent status quo, albeit with a regular course of monitoring. There also really appears to be no long term prognosis available - it's just too rare a diagnosis with too little research.

[Worriedmamabear in reply to M8118]

thank you - he is a non drinker and we are hoping that after his 2 admissions ( maybe 3 if he keeps gaining ) and the right amount of medication to prevent the ascites we might get to where you are now.

he has a clinical immunologist who we have been lucky enough to have had for 25 years - he was 3 when diagnosed with xla and i was pregnant with his younger brother who touch wood who also has xla but none of the unusual infections his poor brother has suffered.

your absolutely right i cant find a lot of information on it at all. thanks again and take care