The disease now called Primary aHUS has existed as long as humans had complement and coagulation systems.
Dinosaurs might have had it too including Tyrannosaurus Rexs . However , Tyrannosaurus Rexs did not know they were called Tyrannosaurus Rex let alone the name of condition in their immune system, aHUS, which might have killed them.
Humans get ill and those illness were given names.
The “Black Death” for example , or people who had a condition which made them “lepers”, leprosy.
They have Bubonic Plague and Hansen’s Disease today.
Medical science and sometimes social pressure result in disease name changes. Bubonic Plague reflects the part of the body at the heart of the disease, i.e. buboes lymph nodes rather than an observable symptom.
Hansen’s disease marks the name of the researcher who discovered the bacterial cause of leprosy. Leprosy patients had been isolated from society for centuries, and eventually the term leper was used to describe anyone who should be avoided for others reasons. Stigmatising those who suffered from the disease.
There is proposal to once again change the name “aHUS”.
Once again because for the past 100 years or more people with “our disease” have been called by different names.
Until 101 years ago we would have been included with those who had the “Clumping Disease”. That described the clumps of platelets found in patients blood vessels who had died.
In 1924 a New York doctor, Eli Moschcowitz, described someone as having signs of “thrombotic thrombocytopenic purpura”. For a while the disease was named Moschcowitz Disease after Eli.
But it was changed a few years later to thrombotic thrombocytopenic purpura, or TTP.
Nothing changed for nearly three decades until in 1951 and someone named Professor William St Clair Symmers described what he had found thrombotic microangiopathies or TMA, of which he thought TTP was just one.
Only three years after that in 1954 Conrad von Gassers described the hemolytic-uremic syndromes or HUSs to distinguish that TMA from TTP. Calling it Gassers Syndroms was toyed with for a while.
Although HUS caught on as a name, TTP and HUS remained closely linked as they looked to be the same condition. In that period HUS/TTP was an accepted name and acquired a distinction that HUS was the condition in childhood and TTP was the adult version.
Then HUS got associated with its e.coli trigger rather than the familial version of the HUS. And TTP was found to be associated with Von Willebrand
It was the familial HUS version that was studied to show for the first time that genetic variant in complement drove the disease in the late 1990s.
Then at the turn of the century as HUS became the e coli version the term atypical hemolytic uremic syndrome or aHUS became used to include versions other than familial HUS but which were complement related.
That was the name for the next 10 years and was the one used used to define who could be included in the trial of a new drug to control unregulated complement. The trial was for that atypical hemolytic uremic syndrome.
All patient advocacy organisations which sprung up at the time, were formed to advocate for eculizumab as a treatment for their aHUS , the one which was complement related. It was clear in their mind. They may not have understood hemolytic but they were certain about the kidney failure.
But scientists were still looking at conditions which had a TMAs and which were not necessarily complement related. These TMAs became known as Secondary aHUS.
By implication if not formally the version advocated for by the new aHUS organisations became known as Primary aHUS. Although the distinction never caught on as far patients and patient advocates were concerned.
This categorisation was “formalised” in the KDIGO guidelines which were published in 2017.
The so called Primary aHUS which is complement driven still dominates the aHUS patient community. Few, if any, Secondary aHUS patients gravitate to the Primary aHUS community.
No aHUS patient organisation has explicitly advocated for those with Secondary aHUS or TMAs in other diseases.
Here by example is news about a Secondary aHUS/TMA in an article published in the last couple of weeks. Kidney outcomes of malignant hypertension-associated thrombotic microangiopathy in patients with and without IgA nephropathy: a propensity score-matched analysis.
That would not be thought by Primary aHUS advocates to be of interest to them.
Primary aHUS organisation neither posses the capability or capacity to be concerned about the patients in that study, even if they were aware.
Only aHUS alliance has informed about Secondary aHUSs as part of general TMA awareness because TMA awareness is important if Primary aHUS patients are going to get a chance of a rapid diagnosis.
Maybe it is 8 years too late to say so, but our aHUS organisation and this website’s priority is Primary aHUS and maybe using that term Primary aHUS would have clarified what our patient advocacy is specific too.
There are other patient organisation for the diseases which can experience a Secondary TMA, which although a rare occurrence within these more common diseases need advocate for that subset too.
This does not rule out a TMA consortium of all with shared interests even combining on TMA awareness as kidney organisations do. However based on Global Action’s experience of engaging with Secondary TMA organisations so far there is little or no enthusiasm for it.
Primary aHUS patients do not find, as far as is known, that the name of their disease is stigmatising. The might find it vague based on only two clinical signs that cannot be seen. They may have, if they think about, become aware that having added the Secondary aHUS conditions to theirs it has become confusing for doctors as well as Primary aHUS patients.
the more they a saw of an informal, inconsistent unregulated name change creep at increasing speeds in articles the more confused the situation became.
So in the 100 years we have been in the following diseases:
1923-Clumping Disorder
1924 Moschcowitz Disease
1920s TTP
1955 HUSs ( Gasser Syndromes)
1980s HUS/TPP
!990s Familial HUS
2000ish aHUS
and 2017 Primary aHUS
And now from 2024 maybe C-TMA will be next in time to come.
Article No 716
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…
