Can PA be hereditary?: For those of you... - Pernicious Anaemi...

Pernicious Anaemia Society

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Can PA be hereditary?

seamail57 profile image
19 Replies

For those of you with PA, did one of your parent’s have it?

I’m starting to have some symptoms of deficiency (I’m 62) and my late father was having 3-monthly B12 injections.

Thanks 😀

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seamail57
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19 Replies
Sleepybunny profile image
Sleepybunny

Hi,

Link to PAS (Pernicious Anaemia Society) article that mentions PA can run in families.

pernicious-anaemia-society....

PAS (Pernicious Anaemia Society)

Based in Wales, UK.

pernicious-anaemia-society....

PAS tel no +44 (0)1656 769717 answerphone

PAS support groups in UK

pernicious-anaemia-society....

Blog post about how PAS can support PAS members seeking PA diagnosis

martynhooper.com/2017/06/24...

PA tests

Intrinsic Factor Antibody (IFA) test

labtestsonline.org/tests/in...

Parietal Cell Antibody (PCA) test

labtestsonline.org/tests/pa...

PCA is not recommended as a diagnostic test for PA in UK.

Both these tests can be unreliable.

It is still possible to have PA with a negative result in IFA or PCA test.

About 50% of people with PA test negative on IFA test.

About 10% of people with PA test negative on PCA test.

B12 Deficiency Info website

b12deficiency.info/

BSH Cobalamin and Folate Guidelines

b-s-h.org.uk/guidelines/gui...

I am not medically trained.

fbirder profile image
fbirder

Neither of my parents, but my aunt has PA and dementia. I often wonder if the one contributed to the other as she wasn't diagnosed until quite late.

clivealive profile image
clivealiveForum Support

Not me - my P.A. was caused by gastric surgery in 1959 but yes it can be inherited from a blood relative.

JanD236 profile image
JanD236

My aunt has B12d, I’m not sure if she was ever tested for PA. Her B12 serum level when diagnosed was 69 which is appallingly low and in her late 80s she is wheelchair bound with poor quality of life.

Neither of my parents does although my mum has an under active thyroid which I’m guessing is hashimotos so as that’s an autoimmune disease it would be indirectly related.

I’m not aware of any other family members with it.

Mewsmom profile image
Mewsmom

The first thing my doctor asked me after being diognosed with PA was,who else in your family has it, nobody to my knowledge is my reply doc said well tell your children to get tested as I may be the person to start the link!

seamail57 profile image
seamail57 in reply toMewsmom

Thank you, very interesting !

Gambit62 profile image
Gambit62Administrator

There is a tendency to see family histories of PA but nobody has ever been able to identify which genes might be involved.

Genetic variants fall into too main classes

- dominant - meaning if you have that variant then you will have the traits associated with that gene

- latent - meaning that something else needs to happen to cause the genetic variant to come into - this can be as simple as having two copies of the same gene (recessive, if I remember correctly), but it usually isn't ... and those genes can be very difficult to identify and understand. Any genetic variants associated with PA would seem to be latent .... as are most of the genes involved in other conditions such as hashimotos and diabetes.

deniseinmilden profile image
deniseinmilden in reply toGambit62

Wow - brilliant extra information from you once again. Thank you very much.

Litatamon profile image
Litatamon

My gp told me that PA is not hereditary, when I asked. And then I read articles that b12 deficiency can be.

I have it. My aunt has it. My sister has it. My niece has it. I wonder about my grandma. We all found it at the same time recently, besides my aunt. And that is just the list that knows! Everyone's symptoms are from head to toe, so many relatives could be out there being diagnosed with anything.

My mother is horrifying to think about. Dementia that played out like possible b12 symptoms looking back, of course not knowing then.

We will never know. And quite honestly it would put me in a looney bin to know 100% that she was misdiagnosed. All her suffering.

Mammak profile image
Mammak

My Aunt had PA, and so did several great Aunts and Uncles. My mom remembers her Aunts and Uncles having to drink their "raw liver slurry", which was the treatment at the time. Shiver. Thank goodness for injections!

Patjamber profile image
Patjamber

My mum had PA but she wasn’t diagnosed until later in life By this time she was incontinent and had lost the use of her body from the waist down. They said she had ms type tendencies but it was PA. I have it, my daughter is low and my granddaughter but they won’t confirm PA

deniseinmilden profile image
deniseinmilden

My Dad was diagnosed with B12 deficiency and lots of members of his side of the family have absorption and deficiency problems.

My Mum has had symptoms of B12d and folate deficiency for years but I doubt has been tested or treated.

Coachlady11 profile image
Coachlady11

My mum had PA and so does my cousin

Retteacher profile image
Retteacher

Hi, both my father and mother had PA. I was told 30 years ago by an eminent endocrinologist that it was not a question of if but when I would get it. At present I have a plethora of symptoms but only a slightly elevated urine MMA. This is probably due to the effects of oral folic acid and B12. Unfortunately, a consultant haemotologist in Holland says that I would have to stop oral supplements for six months to have any chance of the serum tests showing a deficiency. My father who had classic neurological symptoms had to have a bone marrow biopsy to establish his diagnosis. For some reason my doctors seem to want to keep looking for anything else other than a B12 deficiency. They are having no success other than destabilizing my Thyroxine levels because my TSH had disappeared in a routine annual check up. I am fast approaching the point where I resort to self injection. Dr Chandy's book on clinical practice describes many case studies in which B12 deficiency ran in families.

seamail57 profile image
seamail57 in reply toRetteacher

Thank you for your detailed reply, very interesting !

Sadie97 profile image
Sadie97

My grandmother had it. Think my mom did too, as her b12 low & on shots but never tested for PA.

WildMarmot profile image
WildMarmot

I learned recently that my great grandmother had it and used to get monthly shots. I’ve heard that it’s common in people of Scandinavian descent. We are Swedish.

jaybirdxNHM profile image
jaybirdxNHM

My paternal grandma ,my Dad, my sister all PA. I have had a checkered diagnosis as I have moved around. Now self inject with GPs' permission; 3rd GP asked.I fund it completely.

TariTraveller profile image
TariTraveller

Hello, neither of my parents were ever tested for PA, so I can’t say if they had it. My dad has now passed away and my mom is still alive, but she’s never had symptoms. Sorry to hear of your symptoms, maybe your doctor can order tests to confirm?

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