Thrombophilia historical perspective

Jump to navigation Jump to search

Thrombophilia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Thrombophilia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Thrombophilia historical perspective On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Thrombophilia historical perspective

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Thrombophilia historical perspective

CDC on Thrombophilia historical perspective

Thrombophilia historical perspective in the news

Blogs on Thrombophilia historical perspective

Directions to Hospitals Treating Thrombophilia

Risk calculators and risk factors for Thrombophilia historical perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Asiri Ediriwickrema, M.D., M.H.S. [2]

Overview

Rudolf Virchow described hypercoagulability in the mid 1800s, however, it was not until 1965 that the first descriptions of inherited thrombophilia were published. Later, in the 1990s, the more common mutations associated with primary hypercoagulable states were identified.

Historical Perspective

  • Rudolf Virchow, a German physician (1821-1902), began describing the pathophysiology of hemostasis at age 24[1].
  • In 1965, the first descriptions of inherited thrombophilias were antithrombin deficiency and dysfibrinogenemia[2][3].
  • In 1981-1984, Griffin et al and Comp et al described protein C deficiency and protein S deficiency respectively as a primary hypercoagulable state[4][5].
  • In 1993-1994, Bertina and colleagues identified that activated protein C (APC) resistance was primarily due to a mutation in the factor V gene (guanine to adenine substitution at nucleotide 1691, G1691A) resulting in the Factor V Leiden molecule[6].
  • In 1996, Poort et al described a prothrombin gene mutation, specificaly the substitution of adenine to guanine at nucleotide 20210 (Prothrombin G20210A), and its association with inherited thrombophilia[7].

References

  1. Schafer AI (1994). "Hypercoagulable states: molecular genetics to clinical practice". Lancet. 344 (8939–8940): 1739–42. PMID 7997003.
  2. EGEBERG O (1965). "INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA". Thromb Diath Haemorrh. 13: 516–30. PMID 14347873.
  3. Beck EA, Charache P, Jackson DP (1965). "A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore')". Nature. 208 (5006): 143–5. PMID 4956920.
  4. Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C (1981). "Deficiency of protein C in congenital thrombotic disease". J Clin Invest. 68 (5): 1370–3. PMC 370934. PMID 6895379.
  5. Comp PC, Esmon CT (1984). "Recurrent venous thromboembolism in patients with a partial deficiency of protein S." N Engl J Med. 311 (24): 1525–8. doi:10.1056/NEJM198412133112401. PMID 6239102.
  6. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H; et al. (1994). "Mutation in blood coagulation factor V associated with resistance to activated protein C." Nature. 369 (6475): 64–7. doi:10.1038/369064a0. PMID 8164741.
  7. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM (1996). "A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis". Blood. 88 (10): 3698–703. PMID 8916933.

Template:WH Template:WS