All is quiet on the aHUS naming front

For several years now the naming of our disease has been discussed and new names proposed but nothing official has yet happened to it.

It is six months since a report with proposals about aHUS naming was published but the official renaming implementation process as envisaged has not progressed and may never. Who knows?!!

Except that unofficial name alternatives are already appearing in medical publications sometimes coined by the authors themselves to add to the inconsistency.

That may all there might be.

Names will be made up and used for medical articles but the old terms like aHUS will remain in medical records and health policy decision documents. Eculizumab and Ravulizumab are licenced for aHUS as defined in the inclusion and exclusion criteria for the original drug trial.

In effect a half baked and a two tier naming system now exists.

This has always been the case since soon after our disease was first described. This is supposed to end all that.

In official terms for medical publication purposes our disease is and remains called atypical hemolytic uremic syndrome. All lower case as it is the common noun syndrome which is preceded with the adjectives hemolytic and uremic to describe it and with atypical added on to differentiate it from the typical version of hemolytic uremic syndrome though typical is rarely used and is not official. ( It is the reverse of course in French , Spanish languages etc)

The atypical can be Atypical if it begins a sentence. Sometimes the capitalised version is used mid sentence which grammatically, as well as officially, is wrong to do. So it is just an informal preference which is OK if others accept it.

Having used the official term, users then follow it up with the acronym aHUS. Acronyms of course allow the capitalisation of the initial letters of noun and adjectives. But it is never called AHUS as the “a” is not capitalised in the acronym.

Again the acronym is not official but has become informally accepted in practice.

So a sentence like “Atypical hemolytic uremic syndrome, (or aHUS) is….” shows an apparent incongruence which is entirely within the rules even if it jars.

What is yet to come with the new names?

Our disease is a thrombotic microangiopathy in official medical terms and its acronym is TMA (three capital letters for two words). But our thrombotic microangiopathy is caused by complement or is complement mediated. So an official name for this specific TMA is proposed to be complement-mediated thrombotic microangiopathy. Its acronym is likely to be C-TMA . The hyphen is not the one used between complement and mediated and there is no “M” for mediated.

But it will not stop there because the complement mediated thrombotic microangiopathy or C-TMA will be further described depending whether there is a genetic reason or not for why complement has mediated the thrombotic microangiopathy.

If a genetic factor is found to explain the complement mediation then the official name becomes genetic complement-mediated thrombotic microangiopathy with an acronym GC-TMA.

But there is also an anti-complement factor H antibodies thrombotic microangiopathy with the acronym CFHAb-TMA. Nothing for anti and Ab is an accepted clinical abbreviation for “antibodies“. But why plural?

If no genetic nor antibodies reason is found then the thrombotic microangiopathy will be officially a complement-mediated thrombotic microangiopathy with no known pathogenic variant with the acronym NGC-TMA for short thankfully.

There is also a GNC-TMA for non-complement related known variants in other genes. As would be the case for those with DGKE variants which would be a DGKE-TMA. Each known condition would be a different TMA disease.

The positioning of the “Ns” and “Gs” is subtle but important. What could go wrong?

There will be other names too, to which some current aHUS patients may be assigned by their doctor. A quick scan of those below and you will get the drift of what is happening and the likely “fluidity”.

P-TMA: for pregnancy cases which are not one of the C-TMAs triggered by pregnancy

TA-TMA : for bone marrow transplant, this name has already been adopted in the leukemia clinical fraternity world for a few years

Tx-TMA: for Solid organ transplant ( including kidneys) which are not one of the C-TMAs

HTN-TMA: Hypertension unless one of C-TMAs

DI-TMA: Drugs each drug with be named a separate TMA

Vasc-TMA: Vasculitis

Cancer-TMA: Cancer

Met-TMA : Metabolic conditions like cobalamin/B12 deficiency

Infection-TMA: Infections with each infection TMA named separately, including STEC, or Viral or Sepsis or Pneu for (streptococcal pneumoniae) TMAs. Maybe one day even a COVID-TMA if the science says.

Unspecified- TMA: for which all else is ruled out. Not a place to be?

Nothing specifically seen in the proposals for SLE/lupus-TMAs or APS/antiphospholipid syndrome-TMAs. Nor plasminogen PLG-TMA, or thrombomodulin TM-TMA .There may be others.

So the range of TMA names will broaden substantially

But TTP , the other primary or classical TMA like the HUSs , will be kept in the root of its names. The association of the HUSs to kidney failure in their naming will no longer be required to accommodate a small number of aHUS cases where the kidney organ is not involved.

Hopefully with the proposed naming all doctors will know them all and go through the logic and tests which will be needed to arrive at the correct TMA diagnosis.

So why isn’t it happening already.

The answer is MONEY. To get from now to the vision just mentioned above is going to take hundreds of thousands if not millions of dollars with lot of resource for quite a long time.

Also it will not end with the intial implementation. As far as the complement mediated question is concerned the science has not yet determined :

the extent to which complement is playing a part in each TMA
nor what part of complement is at play to differentiate the diseases

The experts who have participated are not agreed on many aspects of this naming issue to start with, and this may continue for some time.

What has been an intellectual challenge so far for a small group of “experts” would now turn into a multitude of practical chores to implement it,

All because aHUS is no longer wanted?

That may be so but the TMA scope goes beyond the narrow primary form of aHUS and will affect other TMA patients advocated for by other advocacy groups.

This is really about all TMA patients getting a correct diagnosis of their TMA from a “menu” set out and then the correct treatment for that TMA is given followed by an accurate prognosis for the TMA the doctor decides upon.

For that to come to pass there has to be project management excellence. Maybe too much to expect?

But for now all has been quiet on that front as far as aHUS patients are concerned.

Except at least aHUS alliance Global Action alone continues to highlight this potential major upheaval in the life of aHUS patients both now and in the future.

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