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Guido Fanconi and Eduard Glanzmann: pioneers in pediatric hematology
Both were pediatricians first, hematologists second.
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Guido Fanconi and Eduard Glanzmann were both Swiss born pediatricians who made outstanding and lasting contributions to the fledging field of pediatric hematology in the early 20th century.
At a time when world wars destroyed the medical progress of many countries in Europe, physicians in Switzerland — a neutral country — were able to flourish. Between them, Fanconi and Glanzmann each described a major hematologic disorder, in addition to many other diseases and conditions. They worked with a veritable who’s who of physicians including Adalbert Czerny, the “Pope of Pediatrics;” Emil Feer, the first professor of pediatrics in Switzerland; Naegeli, the “pope” of Swiss hematology; Andrea Prader; Heinrich Willi and others.
Although the conditions bearing their names are not among the most well–known medical eponyms, they are still employed by pediatric hematologists today.
Guido Fanconi
The name Fanconi is most commonly associated with the disease Fanconi’s anemia, which at the time of its discovery was one of only four constitutional anemias that had been discovered.
Fanconi was born on Jan. 1, 1892, in Poschiavo, Switzerland. Although born in an Italian–speaking section of the country, Fanconi was educated in German. He started his pediatric training in 1920 when he entered the Kinderhospital of The University of Zurich. While there, he studied under Feer. In 1929, he succeeded his teacher and became professor of pediatrics and head of the hospital where he remained until his retirement.
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Source: This image was originally published in Blood. Maslak P. Fanconi’s anemia. ASH Image Bank (2008);doi:10.1182/ashimagebank-2008-8-00014. (c) the American Society of Hematology. |
Fanconi is credited with having made Kinderhospital one of the most renowned children’s hospitals in the world. Through his work as an administrator he was able to enlarge the size of the hospital and update equipment and teaching techniques; however, his work as a clinician was more impressive.
In an article written by a pupil of his, Fanconi is described as being able to remember undiagnosed cases for years after and being “unwilling to forget them until he had classified them.” His student suggests that this persistence aided Fanconi in eventually describing so many firsts; he is said to have been the first to describe as many as 11 syndromes.
In 1927, he published a paper titled “Familiäre, infantile, perniziosaartige Anämie” in which he described a case of familial pernicious anemia in three brothers. The brothers had hyperchromic anemia with “anisocytosis and poikilocytosis but no splenomegaly.” A lack of typical bone marrow findings at autopsy initially led Fanconi to dismiss his observations. In time, fellow physicians would validate Fanconi’s theories, and the term Fanconi’s anemia was coined.
A decade later, Fanconi first recognized a cluster of symptoms of another disease that was later called Fanconi’s syndrome. In the disorder the proximal tubular function of the kidney is impaired resulting in an excess of glucose, bicarbonate, phosphates, uric acid, potassium and sodium in the urine.
Finally, “his profound understanding of pathophysiological connections culminated in his prediction that Down syndrome was due to a chromosomal abnormality, 20 years before Lejeune in Paris and P. Jacobs in England discovered trisomy 21.”
During his career he also founded a pediatric academic journal and published eight editions of a textbook on pediatrics with the Swedish pediatrician Walgreen.
Fanconi retired in 1965 and died at age 87 in October 1979.
Eduard Glanzmann
Glanzmann is likely the lesser known of the two men. The disorder bearing his name, Glanzmann-Naegeli syndrome or Glanzmann’s thrombasthenia, is a rare congenital bleeding disorder. Dorland’s Medical Dictionary describes the condition as “a hereditary platelet abnormality characterized by defective clot retraction, prolonged bleeding time, and related symptoms such as epistaxis and inappropriate bleeding.”
Glanzmann was born on April 12, 1887, in Lucerne, Switzerland. He got his medical education at the Universities of Zurich, Berlin and Bern, after which he studied under professor Czerny at the Children’s Hospital of Berlin. Eventually Glanzmann was named professor of pediatrics at the University of Bern and later director of the Children’s Hospital. He remained in both positions until his retirement from medicine in 1957.
Although Glanzmann made contributions to other areas of pediatric research, his work in hematology is his most well known. In 1918, only two years after opening a medical practice, Glanzmann published a description of a new condition he called hereditary hemorrhagic thrombasthenia.
In one biographical account, Glanzmann is said to have encountered the disease in a symptomatic 7-year-old girl. Its presentation in children led him to conclude the disease was likely hereditary. The disorder is both relatively rare and “comparatively benign” — his 7-year-old patient lived to age 78.
The congenital disease is usually autosomal recessive. Glanzmann diagnosed the disease by the presence of prolonged bleeding time and an “isolated, rather than clumped” platelet appearance on a peripheral blood smear. It is now known that in people with this disease the platelet glycoprotein IIb/IIIa complex is either deficient or dysfunctional.
Glanzmann also contributed to the classification of what is most commonly known as Henoch-Schönlein purpura, or HSP. HSP is an autoimmune skin disease where small blood vessels in the skin leak due to inflammation. Glanzmann is said to have recognized the allergic component to this disease and coined it as anaphylactic purpura.
Glanzmann also wrote “Introduction to Paediatrics,” a monograph that became a classical work in pediatrics and was published in seven editions and three languages. Finally, he is credited with the characterization of the features on mononucleosis in 1930, and together with Paul Riniker, the first description of severe combined immune deficiency in infants.
He died in 1959 at age 72.– by Leah Lawrence
For more information:
- Beighton P, Beighton G. The person behind the syndrome. Great Britain: Springer-Verlag London Limited; 1997.
- Stevens RF. Br J Heamatol. 2002;119:901-904.
- Zellweger H. J Pediatrics. 1980;96:674-675.