Information for Providers

Information for Providers

Have you encountered a catastrophic thrombotic event?

Inclusion criteria: The occurance of two or more of the following:

  • acute, >2 arterial and/or venous thromboemboli, and/or thrombotic microangiopathy
  • unusual location (e.g., cerebral sinus thrombosis)
  • progressive/recent unexplained recurrence refractory to acute therapy and/or an atypical response to therapy

Exclusion criteria: This must be in the absence of:

  • active cancer
  • advanced coronary artery disease
  • cocaine use associated with symptom onset
  • intravascular devices
  • paroxysmal nocturnal hemoglobinuria or myeloproliferative syndromes
  • sub-therapeutic treatment
  • multiple/severe trauma
  • pre-morbid clinical status

What is the purpose of this research?

We are investigating a rare hypercoagulable state (thrombotic storm) characterized by multiple, severe, life-threatening thromboembolic events. Patients with catastrophic APS will be included in this study.

The purpose is to refine the extreme clinical phenotype definition of thrombotic storm and identify potential gene mutations that place these individuals at risk, so prevention and treatment strategies can be developed and applied. In addition, identifying new genes involved in the thrombotic process will provide new insights into thrombotic disease in general.

Margaret Pericak-Vance, Ph.D., is the Director of the Hussman Institute for Human Genomics and the PI of this study. Thomas Ortel, M.D., Ph.D., a hematologist from Duke University, is the lead clinical investigator.

What is the potential clinical value of this research?

We anticipate the impact of the results obtained from this study will extend substantially beyond the relatively small number of individuals who develop thrombotic storm. Identifying genes that modify the clinical phenotype of venous thromboembolic disease may impact our approach to the diagnosis and management of the thousands of patients with venous thromboembolism each year.

What does participation involve?

  • a blood sample
  • detailed family and medical history
  • permission to review medical records
  • updated information on a yearly basis

Travel is not required. Study personnel will visit participants in their home or other desired location. There is no cost to participate, and there is no compensation for participating.

How can you help?

Given the rarity and complexity of this disorder, lay individuals are unlikely to be able to appropriately self refer. As such, the physician’s role in recruitment is paramount. If you have or encounter a patient who has had a catastrophic thrombotic event, please inform them about the study. Patients who are interested to participate can contact us directly, or can be referred by you with the patient’s permission. We are happy to answer your questions or provide you with patient brochures.

Study questions can be directed to the research staff at 877-740-7744 or HIHGTS@med.miami.edu. This e-mail address is being protected from spambots – you will need JavaScript enabled to view it . Medical questions pertaining to this disorder may be directed to Thomas Ortel at 888-262-4733 or Thomas.ortel@duke.edu.. This e-mail address is being protected from spambots – you will need JavaScript enabled to view it .

Please download our brochure for more information.