Tuesday, July 8, 2014

History of Porphyria

History of Porphyria


A Little Bit of History
      1841 The term ‘porphyrin comes from the Greek word, porphyus, meaning reddish-purple. It was first thought that the reddish color of blood was from iron. One early scientist performed an experiment to prove that this was not the case. He washed dried blood with concentrated sulfuric acid to free the iron. He then treated it with alcohol and the resulting iron free residue took on a reddish purple color though it contained no iron compound
     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.
     1867 - J.L.W. Thudichum described the beautiful spectrum and fluorescence of these red porphyrins after he published his first book on the analysis of urine.
     1871 - Felix Hoppe-Seyler 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’.
     1874 - Dr. J.H. Schultz described a case of a 33-year-old male weaver who suffered from skin sensitivity, an enlarged spleen and reddish urine since he was an infant. He called the condition pempigus leprosus.  His was most likely the first description of protoporphyria. Dr. Schultz was later credited with giving the disease it’s name.
     1880- MacMunn described a patient’s dark reddish urine of a patient with symptoms of an attack of acute Porphyria.
     1888  Shortly after, sulphonal was introduced as a hypnotic drug, Joseph Stokvis 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.
     1889 - B.J.Stokvis published the first case and clinical description of acute hepatic porphyria.
     1890 - George Harley (1829-96) studied a 27-year-old who also excreted reddish urine and an "unusual nerve disturbance after taking sulphonal. 
     1898 - T.McCall Anderson described two brothers had eruptions with burning and pruitus on the sun exposed areas of their skin so severe that they lost part of their ears and nose.  They exhibited dark urine. 
     1898 - Alfred F. Harris demonstrated that the urine of both brothers contained  the hematoporphyrin group.
     1906 - Dr. Max Dobrschansky described the first case of acute porphyria after a patient had a barbiturate.
     1911 - H. Gunther classified the diseases of porphyria, including congenital erythropoietic porphyria (CEP), which he called congenital hepatoporphyria, the rarest porphyria.
      1913 - Dr. Friedrich Meyer Betz injected himself with hematoporphyrins to determine their photodynamic impact . He subjected himself to the sun and became so photosensitized that the extremely painful photosensitive effect lasted several months. The photos of Dr. Betz taken hours after he injected himself illustrated his badly swollen face.  He was unrecognizable until the swelling decreased.  The-experiment is used today in dermatology text books.  View these photos on the APF website.
     1915 - Hans Fischer studied one of H. Gunther’s patients, Mr. Petry, who had the rare type of Porphyria, CEP. Using data from Mr. Petry’s case, Fischer provided significant insight into the chemistry of porphyrins. He also found that uroporphyrins and coproporphyrins were different from hematoporphyrins and subsequently suggested that the hemato prefix be dropped.
     1923 - A. E. Garrod credits H. Gunther with first recognizing that hematoporphyria was, in fact, an inherited metabolic problem in his manuscript, Inborn Errors of Metabolism. This is the first time the term "inborn errors" of metabolism had been ever used for a group of inherited metabolic disorders and the year CEP was first identified.
     1937 Dr. Jan G. Waldenstrom suggested that the name of the diseases of porphyrin metablolism be porphyrias rather than Hematoporphyrias. Using Paul Ehrlich’s  aldehyde reagent, Waldenstorm identified 103 patients with acute porphyria by testing their urine and noting the red color.  He discovered that asymptomatic family members of these patients also had the same reaction if they ingested even small amounts of barbiturates and sulphonal.
     1949 -Dr. Cecil J. Watson identified cases in which there were excessive amounts of coproporphyrins in the stool and urine and suggested that this was caused by an inborn error of metabolism. He continued his research in the United States, where he and Dr. Samuel Schwartz discovered a fundamental test, , the "Watson-Schwartz tests".
     1954 - R. Schmid, Samuel Schwartz and Cecil. J. Watson classified the porphyrias according to the porphyrin content in the bone marrow and liver.
     1955 - A. Goldberg and H. Berger showed that individuals with an excess of coproporphyrin had another inherited form of porphyria that they called hereditary coproporphyria.  HCP is an autosomal dominant form of hepatic porphyria that is very similar to acute intermittent porphyria, except that some patients develop skin photosensitivity, too.
     1960's – Earnest Porphyria research in Europe and US.
     1961 - Heinrich Gustav Magnus described erythropoietic protoporphyria (EPP) as a genetic disorder arising from impaired activity of ferrochelatase, which is what adds iron to protoporphyrin to form heme.
     1970-2011 - Drs. Anderson, Desnick, Bissell, Bloomer, Bonkovsky,, Bottomley, Dailey, Galbraith, ,Kappas, Kreimer-Birnbaum, Kushner, Lamon, Levere, Levine, Mathews-Roth, McDonaugh, Nichols, Peters, Sinclair, Pimstone, Pierach, Poh-Fitzpatrick, Sassa, Shedlofsky, Schmid, Sassa, Tishler, Tschudy, Watson,,  Phillips and many others too numerous to name have furthered porphyria research and have bettered the health care of all of us with Porphyria. We owe all these people a great debt and a great measure of thanks.
     2008-2011- The APF Protect the Future program to train the next generation of experts was initiated.  We are grateful for the newest experts;  Drs. Manisha Balwani, Lawrence Lui, Gagen Sood, Manish Thapar, Bradley Freilich, Charles Lourenco, Brenden McGuire, Bruce Wang, Majid Rizk, Guiherme Perini, Jennifer Guy, Jeffery Wickliffe,, Aswani Singal, Sajid Mittal,Charles Parker.

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

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