Factor V Leiden

Other Known Aliases – rs6025

Definition – mutated form of factor V that is unable to bind to protein C and leads to a hypercoaguable state

Clinical Significance – This is the most common hereditary hypercoaguability disorder in patients with European lineage. It increases the lifetime risk of DV, PTE, and stroke and patient are managed with lifelong anticoagulation.

History – Named after the Dutch city of Leiden where it was first discovered by Professor Rogier Bertina and Professor Pieter Reitsma in 1994 and subsequently published in Nature in their article entitled “Mutation in blood coagulation factor V associated with resistance to activated protein C”. Leiden has been one of Europe’s most prominent scientific centres for more than 400 years. It contains the oldest university in the Netherlands and has produced 13 Nobel Prize winners.

References

1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
5. Up To Date. www.uptodate.com
6. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994; 369(6475):64-7. [pubmed]

Bence Jones Protein

Other Known Aliases – urine monoclonal globulin protein

Definition – immunoglobulin paraproteins produced by neoplastic plasma cells that are found in the urine due to decreased kidney filtration from acute kidney injury

Clinical Significance – Bence Jones proteins are classically associated with multiple myeloma and Waldenström’s macroglobulinemia and these proteins were detected by heating a urine specimen to promote precipitation of the protein, but now is seen on electrophoresis of concentrated urine. Newer serum free light chain assays have been shown to be more sensitive and superior to the urine studies and are coming into favor.

History – Named after Henry Bence Jones (1813-1873), who was an English physician and chemist and received his medical doctorate from St. George’s Hospital in 1840. His love for chemistry was sparked during his medical training and he simultaneously undertook private instruction in chemistry studies from professor Thomas Graham. After medical school, he went to Giessen, Germany to train under Justus von Liebig’s (the leading chemist of his time) at his animalistic chemistry school. He described his eponymous finding in 1847 in an article entitled “On a new substance occurring in the urine of a patient with Mollities Ossium”. His work on applying chemistry principles to human disease was so far ahead of his time that his work was not nearly as successful as it should have been due to the lack of knowledge of biochemistry and physiology of the time.

References

1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
5. Up To Date. www.uptodate.com
6. Katzmann JA, Abraham RS, Dispenzieri A, Lust JA, Kyle RA. Diagnostic performance of quantitative kappa and lambda free light chain assays in clinical practice. Clinical chemistry. 2005; 51(5):878-81. [pubmed]
7. Jones HB. On a new substance occurring in the urine of a patient with mollities ossium. Philosophical Transactions of the Royal Society. 1848;138:55–62. doi:10.1098/rstl.1848.0003

Homan’s Sign

Other Known Aliases – dorsiflexion sign

Definition – pain in the posterior leg (classically behind the knee) with forced dorsiflexion of the foot

Clinical Significance – this examination finding was used in patients with a suspected DVT and before D-Dimers and clinical ultrasound were readily available. It is clinically useless as it has been studied extensively and found to have a sensitivity of 10-54% and specificity of 29-89%, thus not ruling in or out the condition consistently.

History – Named after John Homans (1877-1954), who was an American surgeon and received his medical doctorate from Harvard Medical School. He worked with Harvey Cushing and Samuel Crowe early in career exploring the connection between the piuitary gland and the reproductive system. He first described his eponymous finding in 1944 in a NEJM article entitled “Diseases of the veins” and later published the first case report of a DVT occuring after prolonged sitting on a flight between Boston and Caracas in 1954. He was a founding member of the the Society for Vascular Surgery and the namesake of the John Homans Chair of Surgery position at Harvard Medical School and John Homans Fellowship in Vascular Surgery at the Brigham and Women’s Hospital.

References

1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
5. Up To Date. www.uptodate.com
6. McGee, Steven (2012). Evidence-Based Physical Diagnosis. Philadelphia, USA: Saunders. pp. 472–473. ISBN978-1-4377-2207-9
7. Homans J. Diseases of the veins. N Engl J Med 1944: 231; 51-60
8. Homans J. Thrombosis of the deep leg veins due to prolonged sitting. The New England journal of medicine. 1954; 250(4):148-9. [pubmed]
9. Barker WF. John Homans, MD, 1877-1954. Arch Surg. 1999;134(9):1019–1020. doi:10.1001/archsurg.134.9.1019