Yesterday I met with my new Ophthalmologist for a basic checkup of my eyes and to try and narrow down a diagnosis, since it's been kind of in question of late (last few years).
So, at age 21 I was diagnosed with early onset Age-Related Macular Degeneration (AMD).
Then a few years ago (age 36ish), a different ophthalmologist diagnosed me with Familial Drusen.
Here's the start of the complicated terms.
The term "Familial Drusen" has two different, and separate, meanings. There is the umbrella term for a group of diseases, but there is also a "Primary Familial Dusen" (which is often simply referred to as Familial Drusen), that means a specific disease under the umbrella of Familial Drusen. THAT particular disease also has two other names: "Doyne's Honeycomb Retinal Dystrophy" (DHRD) and "Malattia Leventinese".
This was not explained to me.
Familial Drusen
• Primary Familial Drusen = DHRD = Malattia Leventinese.
So I got genetic testing done for the disease, which came back negative. At that point, it had not been explained that Familial Drusen also meant a group of diseases.
At that time, I was told that whatever my disease is has developed Geographic Atrophy (GA), and had probably started developing it years earlier (likely age 33 or earlier). Now, anywhere you look, GA is most often defined as "the end-stage of AMD" (which docs now believe I do not have). It takes several prompts and searches to figure out that it's essentially cell death and causes permanent patchy blindness, most commonly associated with AMD. So the term is primarily used to describe a stage of AMD but it is also termed as the advancing of eye disease outside of AMD.
This was also not explained to me.
So until I found out the latter definition, it seemed like I was being told that I have this Familial Drusen (disease) even with a negative genetic test but also have GA which is the end stage of AMD, but that I don't have AMD.
With me so far?
Next: Basal Laminar Drusen.
Yesterday, the above term was used as a diagnosis.
But here's the kicker.
Basal Laminar Drusen (BLD) is also called Cuticular Drusen (CD) and it's also referred to as Gass Syndrome (an eponym).
Basal Laminar Drusen is termed as a specific phenotype of drusen in AMD. What took me a while to unravel is that it is also the term for a disease under the umbrella of Familial Drusen. But under that umbrella, it can also be called Glomerulopathy-Associated Drusen (GAD), because of its high association with a kidney disease called Membranoproliferative Glomerulonephritis type II (MPGN type II), which also has another name, which is Dense Deposit Disease (DDD), and it is under the umbrella group of diseases called C3 Glomerulopathy. I do not currently have this kidney disease, but the ophthalmologist did suggest that I get routine kidney function tests from now on.
BLD is considered less severe and is considered to develop more slowly.
However, it feels strange to have a doctor tell you that you should be optimistic because the prognosis is slower and less severe in this disease when you're already considered to be at the end stages of the disease...
BLD can also cause GA, but apparently it's highly rare, especially in patients under the age of 60. Again, tough to hear that the prognosis is *supposed* to be better than AMD when you're already at the end of either disease at age 39. But I digress.
So:
Familial Drusen
• Primary Familial Drusen = DHRD = Malattia Leventinese.
• BLD = CD = GAD
It gets even more confusing, if you can believe it.
So my ophthalmologist in the appointment said that the "pattern" in my eye is the "starry sky pattern", and that fits with the diagnosis of BLD (or CD), and that it is completely separate from AMD; that AMD is an entirely different disease. BUT, she then sent me home with some literature she printed from the internet which defined BLD as a phenotype of AMD. It also defines it as being its own entity, but on the "spectrum of AMD". So is it part of AMD or separate from AMD?
Being on the spectrum *seems* to mean (after much reading and unwinding) that it looks and acts exactly like the basal laminar drusen (phenotype) found in AMD with a similar (but often slower) disease process, but it occurs in younger individuals and is not AMD.
Unfortunately, none of this was properly explained to me in person (I mean, who has the time???) so I had to try and unravel the varying websites and definitions after hours of searching.
I hope that my understanding is now correct - and please let me know if I have misunderstood something!
So it looks like my diagnosis is:
Basal Laminar Drusen (or Cuticular Drusen), the Glomerulopathy-Associated Drusen (even though I do not currently have this kidney disease). My BLD is a disease under the umbrella of Familial Drusen (not to be confused with Primary Familial Drusen: the disease also called DHRD or Malattia Leventinese), and not the phenotype for AMD.
In summary: there are multiple terms for a single disease, there are terms that are used as a specific phenotype of one disease AND used as a capital letter Disease Name, and there are terms used as a Disease Name as well as an umbrella term for a bunch of different diseases.
Why do we do this?
And why do we need 3 names for each disease? One name, another name (for fun?), and then the eponym???
*I would also like to mention that there is the capital letter Macular Degeneration which refers to Age-Related Macular Degeneration, but also the lowercase term of "macular degeneration" which literally means degeneration of the macula which happens in both AMD and in diseases under the umbrella term Familial Drusen.
No comments:
Post a Comment