Porphyria Educational Services
PORPHYRIA EDUCATIONAL BULLETIN Vol. 1 No. 5 February 1999
PORPHYRIA HISTORICAL ASPECTS
What is porphyria?
Where did it get it's name?
Who first diagnosed the disease? When?
Who were the leading first physicians/scientists?
What data supports the theory that many royals suffered with the
disease?
Who are the other famous names who suffered this disease?
Where did porphyria get it's name?
Porphyria is a fascinating disease.
It is an Unknown Disease, but a very old disease going back to
the
beginning. The Greeks have a word "porphyrus" which
means the color purple.
The term "porphyria" and "porphyrin" are
derived from this Greek word.
The urine of some patients, but not all, may present a
reddish/purple
coloring. Some researchers refer to it as port wine.
At one point in porphyria history researchers wanted to call the
disease
"pyrrolia" The reason for this was due to the fact that
the prominent metabolites are
pyrroles. However the name never came to be used.
During the early years it was known as blood/liver disease.
Tests were not available for identifying the specific types, or
mutations,
and it was thought to be variants of all the same disease.
Now we haveat least eight different distinct types and some
others which
are being researched at this time.
Where does one begin to tell the rich history of porphyria?
As long as there has been human life, there has been porphyria.
Porphyria began at the beginning of time and has continued to
mutate
throughout ensuing generations.
The name "porphyria" is only rather recent. For
centuries it was
known as blood/liver disease.
At one time the abdominal pain was actually thought to be from
the liver.
In some cases it was because of victims dying from liver failure
or
liver cancer as an end results of the porphyria.
The first actual clinical description of the malaise has been
attributed
to a Dr. Schultz, who was a German graduate medical student in
the year
1874. He gave it the name.
In some medical journals, they cite Hippocrates as the first to
recognize
porphyria. However the name is attributed to Schultz.
Probably the first clinical description of acute porphyria as a
clinical
syndrome was made by Dr. B.J. Stokvis in the year 1889.
CEP porphyria was identified in the year 1923.
At first it was believed that there was error in the red blood
pigment
synthesis.
Today we know that porphyria is the over production of porphyrins
in the
liver. In other types the over production is found in the boine
marrow.
Biochemical understanding of porphyria increased in the 1920's
after the
identification and classification of enzymes was made.
At this same time most of the major intermediates of the heme
biosynthesis
pathway were also identified.
In 1930 Hans Fischer, the Nobel laureate, described heme as the
compound
that makes blood red and grass green.
By 1937 Dr. Waldenstrom in Sweden published his findings. For a
time AIP
was known as Swedish porphyria, or Waldenstrom's porphyria.
In the 1960's porphyria research began in earnest in Europe and
in the US.
The big break came when scientists were able to recognize ALA and
PBG in
the 60's.
With modern technology came new molecular biology discoveries.
Then came DNA. And what was impossible a mere 12 years ago,
is common place today in porphyria...family mutation
identification
and genetic mapping.
So this is a brief overview of the top names in our porph
history.
However, blood/liver disease was recognized for years and was
evident in
the royal families for generations, as well as the VonGogh's
family which
ended with him.
Ironically the reason VonGogh drank the vermouth liquor was
became he had
the severe chronic abdominal pain...and the reason he got the ab
pain was
because he drank the alcohol. A vicious cycle. His vomiting
caused such a
great metabolic imbalance that it caused him such mental
confusion that
heliterally ended his own life, and we lost a great artist.
Since 1989 the techniques of molecular buiology have been used to
identify
the mutations responsible for porphyria
.