Thursday, January 15, 2015

A LITTLE BIT OF HISTORY

A LITTLE BIT OF HISTORY

  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 a
blood/liver disease. At one time the abdominal pain was actually thought to be from the liver. The term porphyria
itself is derived from the Greek πορφύρα, porphyra, meaning "purple pigment." The name is likely to have been a
reference to the purple discoloration of feces and urine when exposed to light in patients during an attack. Although
original descriptions are attributed to Hippocrates, the disease was first explained biochemically by Felix
Hoppe-Seyler in 1871 and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889. Before,
in 1844, Gerardus Johannes Mulder determined the chemical composition of this purplish, iron free substance, which
he named "hematin." He also illustrated that hematin took up oxygen. Later, in 1867, J.L.W. Thudichum described
the spectrum and fluorescence of these red porphyrins after he published his first book on the analysis of urine.
Based on that, in 1871, Felix Hoppe-Seyler (photo L) crystallized hematin and described it’s
spectrum. He then demonstrated that the crystalline form differed from one animal species to
another. Using his own newly constructed gas pump, he found that oxygen formed a loose, dissociable
compound with hemoglobin, which he called "oxyhemoglobin." He renamed the iron
free hematin ‘hematoPorphyrin.’ He is a German physician known for his work in establishing
biochemistry as an academic discipline. Felix was the first to obtain lecithin in a pure form and
introduced the word proteid (now protein). Additional contributions included metabolic studies
and researches on chlorophyll and blood, and especially abovementioned hemoglobin, which he
obtained in crystalline form.
In 1874 - Dr. J.H. Schultz first described a case of a 33-year-old male weaver who suffered
from skin sensitivity, an enlarged spleen and reddish urine from infancy. He called the condition
pempigus leprosus. His was most likely the first description of protoporphyria (EPP). Dr. Schultz
was later credited with giving the disease it’s name.In 1880 MacMunn described a patient’s dark
reddish urine during an attack of acute Porphyria. Shortly after in 1888, sulphonal was introduced
as a hypnotic drug, Joseph Stokvis (photo L) had a patient, who, after taking the drug, excreated
the tell-tale dark reddish urine typical of porphyria. The elderly woman then
became paralyzed and died. Stokvis deducted that the pigment in her urine was
the hematoporphyrin. Based on that experience, in 1889 B. J. Stokvis published the first case and
clinical description of acute hepatic porphyria. CEP porphyria was identified in the year 1923.
In 1930, Hans Fischer (photo R), 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. Overall, by the 1960s, all known types of porphyria
had been identified and environmental factors were shown to affect the disease course. Research in the 1980s
and 1990s led to the identification of the molecular defects in each type of porphyria. 

"Remember.....Research is the key to your cure!"

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Emergency Room Guidelines for Acute Porphyrias

Emergency Room Guidelines for Acute Porphyrias http://www.porphyriafoundation.com/sites/default/files/ERGuidelinesAcutePorphyria%201.pdf ...