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Wilson’s Disease

 

Other Known Aliases – progressive hepatolenticular degeneration

 

Definition – Autosomal recessive condition that causes impaired copper metabolism leading to intoxication due to a mutation in the chromosome 13q14 resulting in faulty ATP7B protein production.

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Clinical Significance – A rare, but devastating, disease if not identified early in its course.  It can effect multiple systems including:

  • Hepatic – elevated transaminases to fulminant liver failure
  • Hematologic – hemolytic anemia, jaundice
  • Neurologic – athetosis, tremors, dystonia
  • Psychiatric – behavior changes, learning difficulties
  • Ocular – Kayser-Fleischer rings (more on this next week)

Image result for wilson's disease

History – Named after Samuel Alexander Kinnier Wilson (1878-1937), who was an American-born, British neurologist.  He received his medical degree from the University of Edinburgh Medical School in 1902 and studied neurology with Joseph Babinsky at the Salpétriére Hospital in Paris before relocating back to London for the duration of his medical career.   He is also credited with introducing the neuropsychiatric term “extrapyramidal” into the medical lexicon.  He described his eponymous disease in his 1912 medical dissertation where it gained its notoriety, but was first recorded in 1854 by Friedrich Theodor von Freichs.

Samuel Alexander Kinnier Wilson.jpg

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. Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson’s disease: A review of what we have learned. World journal of hepatology. 2015; 7(29):2859-70. [pubmed]
  6. Patil M, Sheth KA, Krishnamurthy AC, Devarbhavi H. A review and current perspective on Wilson disease. Journal of clinical and experimental hepatology. 2013; 3(4):321-36. [pubmed]
  7. Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders. The Lancet. Neurology. 2015; 14(1):103-13. [pubmed]
  8. Kinnier Wilson SA.  Progressive Lenticular Degeneration: A Familial Nervous Disease Associated with CIrrhosis of the Liver.  Brain. 1912;34(4):295-507

PAINE #PANCE Pearl – Oncology

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Question

 

27yo male, with stage II Hodgkin’s lymphoma, presents to his oncologists’s office for 6-week follow-up s/p 4 cycles of ABVD chemotherapy.  He reports malaise and fatigue, but is otherwise in good spirits.  Vitals show:

  • BP – 122/72 mmHg
  • HR – 96 bpm
  • RR – 15 bpm
  • O2% – 100% on room air
  • Temperature – 38.5oC (101.4oF)

 

Labs in the office are below:

Answer

 

This patient has a neutropenic fever.  This is an oncologic emergency because their immune systems has been completely destroyed by the chemotherapy and they are unable to mount an appropriate response to the infectious insult. In order to determine if a patient is neutropenic, you must calculate an Absolute Neutrophil Count (ANC).

MD Calc Link

Neutropenia =  ANC < 1500

 

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Hodgkin’s Lymphoma

 

Other Known Aliases – none

 

Definition – Type of lymphoma predominantly from lymphocytes that arise from germinal center or post-germinal center of B cells

 

Clinical Significance – Accounts for 10% of all lymphomas and 0.6% of all cancers.  It is also associated with a bimodal age distribution of young adults (20s) and older adults (60s), with a slight male predominance.  Epstein-Barr virus is the most common causative agent and it carries a favorable prognosis.

 

History – Named after Thomas Hodgkin (1798-1866), who was British physician and considered one of the most prominent pathologists of his time.  He was also a perpetual student constantly learning new techniques including being an early adopter of the stethoscope anda fervent advocate for preventative medicine.  He first described his findings on his eponymous disease in 1832, but it wasn’t until 33 years later when another British physician, Samuel Wilks, “re-discovered” the disease and Hodgkin’s work did it gain any traction and recognition.

 

Thomas Hodgkin photo.jpg

 

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. Hodgkin Lymphome.  British Medical Journal – Best Practice. http://bestpractice.bmj.com/topics/en-us/311
  6. Hodgkin T.  On Some Morbid Appearances of The Absorbent Glands and Spleen.  Med Chir Trans.  1832;17:68-114.

PAINE #PANCE Pearl – Oncology

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27yo male, with stage II Hodgkin’s lymphoma, presents to his oncologists’s office for 6-week follow-up s/p 4 cycles of ABVD chemotherapy.  He reports malaise and fatigue, but is otherwise in good spirits.  Vitals show:

  • BP – 122/72 mmHg
  • HR – 96 bpm
  • RR – 15 bpm
  • O2% – 100% on room air
  • Temperature – 38.5oC (101.4oF)

 

Labs in the office are below:

 

Ep-PAINE-nym

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Auer Rods

 

Other Known Aliases – none

 

Definition – Auer rods are azurophilic granules found in the cytoplasm of leukemic blast cells and are composed of fused lyosomes.

 

Image result for auer rods

 

Clinical Significance – These are found in high grade myelodysplastic and myeloproliferative syndromes and are pathognomonic for acute myelogenous leukemia (AML).

 

Image result for auer rods

 

History – Named after John Auer (1875-1948), an American physiologist and pharmacologist, who held appointments at Johns Hopkins Hospital, Rockefeller Institute for Medical Research, and the St. Louis School of Medicine. He first described these structures in a 21yo male who was suffering from a sore throat and nosebleed and admitted to Sir William Osler’s service for work-up.  He published this finding in 1906, but were first described by a colleague of his at Johns Hopkins Hospital, Thomas McCrae.  Interestingly, they both erroneously thought that the cells containing these structures were lymphoblasts, not myeloblasts.

 

Image result for john auer rods

scanned image of page 404

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. Gordon SW, Krystal GW. Auer Rods. NEJM. 2017; 376(21):2065. [pubmed]
  6. Auer J. Some hitherto Undescribed Structures Found in the Large Lymphocytes of a Case of Acute Leukemia. AJMS. 1906;131(6):1002-1014 [article]
  7. McCrae T. Acute Lymphatic Leukemia, with Report of Five Cases. BMJ. 1905; 1(2304):404-8. [pubmed]
  8. John Auer. http://www.iqb.es/historiamedicina/personas/auer.htm

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von Willebrand Disease

 

Other Known Aliases – hereditary pseudohemophilia

Definition – Autosomal dominant, hereditary clotting disorder arising from a deficiency in the quantity and/or quality of von Willebrand factor (vWF), which is a protein required for protein adhesion and involved in primary hemostasis.  The genetic defect responsible for vWF production the vWF gene located on the short arm p of chromosome 12 (12p13.2).

Image result for von willebrand factor

 

Clinical Significance – This is the most common type of hereditary blood-clotting disorder in humans, with 3 main hereditary types and multiple subtypes.  Type 1 is the most common and often asymptomatic, Type 2 can have mild to moderate symptoms, Type 3 is the most severe and can manifest with hemarthosis and internal bleeding. 

History – Named after Erik Adolf von Willebrand (1870-1949), a Finnish physician graduating from the University of Helsinki 1896, and who took a special interest in hematology and coagulation.  In 1924, a 5yo girl was brought to him due to a bleeding disorder and he successfully performed a family history map on the girl’s 66 living family members and discovered the autosomal dominant pattern.  He published his findings in 1926 in Swedish calling it “pseudo-hemophilia”, but it wasn’t until 1931 (when it was translated into German) did it gain any traction in the medical community.

 

 

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. Von Willebrand EA. Hereditary pseudohaemophilia. Haemophilia. 1999; 5(3):223-31. [translation of original paper] [pubmed]
  6. Leebeek FW, Eikenboom JC. Von Willebrand’s Disease. NEJM. 2016; 375(21):2067-2080. [pubmed]
  7. Nilsson IM. Commentary to Erik von Willebrand’s original paper from 1926 ‘Hereditär pseudohemofili’. Haemophilia. 1999; 5(3):220-1. [pubmed]