Hereditary vs Familial

[studyalready]

Hey everyone!

so these 2 terms seem to be a bit confusing

Hereditary means - when a disease is inherited from ones parents
and Familial - means a hereditary disease occcuring in many memebers of a family

since a genetic disease is eventually passed down in an Autosomal dominant or Recessiv e fashion , are all Hereditary diseases Familial ?

Thanks in advance!

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[ipizzy]

Hey everyone!

so these 2 terms seem to be a bit confusing

Hereditary means - when a disease is inherited from ones parents
and Familial - means a hereditary disease occcuring in many memebers of a family

since a genetic disease is eventually passed down in an Autosomal dominant or Recessiv e fashion , are all Hereditary diseases Familial ?

Thanks in advance!

I think there are certain situations when a disease is hereditary but not familial; for example, a spontaneous mutation in FGFR3 in a sperm leading to achondroplasia in the child, or a nondisjunction event leading to Down syndrome.

 

[shan564]

I think there are certain situations when a disease is hereditary but not familial; for example, a spontaneous mutation in FGFR3 in a sperm leading to achondroplasia in the child, or a nondisjunction event leading to Down syndrome.

I don't think those diseases classify as "hereditary". They count as "congenital", but it's not hereditary unless it's on the chromosome.

I always thought the two terms were essentially interchangeable. I've seen different textbooks refer to the same disease as "hereditary hypercholesterolemia" or "familial hypercholesterolemia." I suppose one possible difference would be if a familial disease arises due to a common environmental factor rather than a genetic factor, but I don't think they usually use the term "hereditary" for those diseases.

 

[ipizzy]

I don't think those diseases classify as "hereditary". They count as "congenital", but it's not hereditary unless it's on the chromosome.

I always thought the two terms were essentially interchangeable. I've seen different textbooks refer to the same disease as "hereditary hypercholesterolemia" or "familial hypercholesterolemia." I suppose one possible difference would be if a familial disease arises due to a common environmental factor rather than a genetic factor, but I don't think they usually use the term "hereditary" for those diseases.

I disagree; I don't think the two examples I gave are congenital (to me, that term implies a defect that is not necessarily caused by genetics, like congenital heart defects). According to the definitions the OP gave for hereditary va familial, achondroplasia and Down syndrome fit the bill for being hereditary and not familial. They are both caused by abnormalities in chrosomes or genes, but are typically not passed down through families.

 

[tjquinn]

Perhaps a better example is loss of heterozygosity? For example, you may receive the MEN1 mutation (one on chromosome), but you will only get the disease if you lose the other chromosome at some point in your life. This would be an example of a familial disease (APC is another)