Gauchers diagnosis

[Irishspice]

Hello all I just want to ask with this disorder do the symptoms vary dramatically from person to person ? Is there any sure way to determine if I have this ?? I display some symptoms however is there say a milder form of this disorder im going to go to my gp however they put everything down to stress and I would just like to rule things out or know what to ask for the doctors only give u a 15 minute slot so any help would be loved thank you

[AyrshireK]

Gaucher's is a very rare condition, less than 2000 cases per year and it is genetic so would require both parents to be carrier's to have potentially affected you.

Genetics

The three types of Gaucher's disease are autosomal recessive. Both parents must be carriers for a child to be affected. If both parents are carriers, the chance of the disease is one in four, or 25%, with each pregnancy for an affected child. Genetic counseling and genetic testing are recommended for families who may be carriers of mutations.

Each type has been linked to particular mutations. In all, about 80 known GBA gene mutations are grouped into three main types:[6]

Type I (N370S homozygote), the most common, also called the "non-neuropathic" type occurs mainly in Ashkenazi Jews, at 100 times the occurrence in the general populace. The median age at diagnosis is 28 years of age,[7] and life expectancy is mildly decreased.[8]

Type II (one or two alleles L444P) is characterized by neurological problems in small children. The enzyme is hardly released into the lysosomes. Prognosis is poor: most die before the age of three.

Type III (also one or two copies of L444P, possibly delayed by protective polymorphisms) occurs in Swedish patients from the Norrbotten region.[9] This group develops the disease somewhat later, but most die before their 30th birthday.

The Gaucher-causing mutations may have entered the Ashkenazi Jewish gene pool in the early Middle Ages (48–55 generations ago).[10]

I don't know what specific symptoms have led you to believe your issues are potentially Gauchers over other conditions. But your doctor should be able to carry out tests. I don't believe that Gauchers is a liver disorder as such (and this is a liver focussed forum) but it can lead to fatty build up in liver tissues and can also present with other issues that are common to several liver diseases .

Have you had liver function tests and a liver scan/abdominal ultrasound? Could Non Alcohol related fatty liver disease possibly be your issue rather than the very rare Gauchers?

britishlivertrust.org.uk/in...

I am not a doctor or qualified to offer any sort of diagnosis but your post doesn't make it clear what symptoms you are having that cause you concern.

Go to your doctor with a list of symptoms you are experiencing and any questions you need to ask and make sure you get relevant follow up. If you write everything down before you go you can keep your appointment on track and make the most of your allotted 15 minutes.

I have just looked at your post on the other forum's you posted to earlier today and some of your symptoms do look potentially liver related. A scan of your liver might be warranted just to check if there are obvious changes there.

Katie