Thrombotic Storm – a Rare, but Serious Unknown Blood Clot Disorder

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While most people who develop a blood clot in their vein have a deep vein thrombosis (DVT) or a blood clot in their lung (pulmonary embolism), a very small number of people who develop blood clots have a more serious and often life-threatening syndrome called Thrombotic Storm. People with Thrombotic Storm experience more than one blood clot in a short period of time. These clots occur in different and sometimes unusual locations in the body. This very aggressive and serious form of blood clotting is often difficult to treat, and there is very little research or documentation of this disorder.

Although research on Thrombotic Storm is still in nascent stages, scientists believe the disorder may be associated with an existing condition or situation that predisposes a person to blood clots such as cancer, infections, or pregnancy. It has also been seen in patients with Antiphospholipid Syndrome (APS), a disorder that causes blood clots as well as pregnancy complications including miscarriages and preeclampsia. When Thrombotic Storm is seen in patients with APS, the condition is referred to as ‘catastrophic Antiphospholipid Syndrome’, or catastrophic APS (CAPS).

JJ VanceThrombotic Storm has been seen in children and adults Recently a research study has been spearheaded by two doctors at the John P. Hussman Institute for Human Genomics who have experienced the torment of Thrombotic Storm firsthand. On December 12, 1998, Margaret A. Pericak-Vance and Jeffery M. Vance lost their son, 14-year-old Jeffery Joseph Vance, to the disorder (www.jjvance.org).  See photo left.

The healthy young athlete, scholar, brother and extraordinary young person wanted to grow up and be a geneticist like his parents. He was a gentle and generous person, giving his time and energy to others.  Now the research investigation into the unexpected and fatal blood clot that caused his death may give hope to other families who have suffered similar tragedies. The Vance’s are not only raising awareness of these deadly form of blood clots  among doctors, but they have also teamed up with six different institutions representing seven unique specialties, in order to elucidate the symptoms, progression, and possible genetic factors that contribute to this rare, but serious disorder.  Dr. Thomas Ortel from Duke University, one of JJ’s doctors, is the lead clinical investigator of this study.

The researchers affiliated with the study recently met in Miami in March and used their medical diversity to shape a definition for Thrombotic Storm based on research from different case studies of the disorder representing previous and current data from each specialty. Because Thrombotic Storm had never been given a concrete definition, the symptoms have often been overlooked as another condition, which can be lethal since Thrombotic Storm needs to be treated quickly and aggressively.

These researchers are now turning their focus towards recruiting patients and raising awareness of the disorder.  Researchers will track patients over time and use detailed data from family history information to identify any potentially inherited patterns in the families of patients with Thrombotic Storm. This will help researchers identify genetic factors that may contribute to this syndrome, and aid in the search for ways to predict, prevent, and treat Thrombotic Storm.

Individuals who were age 55 years or younger at the time they experienced two or more of the following may be eligible to participate:

  • Two or more clots in a short period of time
  • Clot(s) in an unusual location (e.g. not the leg or lung)
  • Clots progressed, or the clots came back when not expected to
  • The response to treatment did not go the way the doctor thought it should (e.g. there was a poor or unusual response to treatment)

For those who would like more information about the study, they may contact study staff at 877-740-7744 or via e-mail at [email protected].  In addition, you may visit the following websites:

 

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Author: admin

3 Responses to "Thrombotic Storm – a Rare, but Serious Unknown Blood Clot Disorder"

  1. Jacque Posted on April 10, 2014 at 11:33 pm

    My brother-in-law is going through something that sounds like the disorder called Thrombotic Storm. His doctors are not sure what has caused his condition. He has in the hundreds of blood clots in both lungs and in both legs. It came on sudden, about a week, he had no pain and no problems breathing until the day he went in the hospital. He did have lose of apatite and he was experiencing weakness. In 2003 he was in hospital for a blood clot or clots in his stomach, and they were not sure what that was from ? He has to take vitamin B shots every month (his body doesn’t absorb the pills) and he is hypo-glycemic. I would really like to find out if this is gene or what because I worry about my husband which is the oldest. Look forward to some in-put on this.

  2. arseniapleas Posted on December 9, 2014 at 8:50 pm

    My husband is going threw something similar to you id like to see what treatments are out their

  3. beverly spann Posted on January 29, 2016 at 3:47 am

    I’m currently experiencing something similar to this today. In 2006 I was told that there was some internal bleeding within my stomach area, but they don’t know why or where the bleeding was coming from. I was given something to stop the bleeding, but instead of stopping the bleeding, my blood clotted immediately putting me into a coma for several weeks. When I finally woke up I was told that a massive blood clot in my left leg developed along with smaller clots in my right leg. A filter was placed through my neck and down in my chest to keep the clots from traveling to my heart and lungs. Because of the filter, I experience severe muscle spasms that can only be controlled with medications like flexiril and neurontin. This medicine puts me to sleep and I am unable to function like ordinary people on a day to day basis. I was told I have some type of rare blood disease that is only seen in one out of a million people. How I got this disorder is a mystery. Nothing like this runs in my family as far as I know. I had to learn to walk again because the left leg was so large and I was unable to sit or stand. Today I try hard to live a normal life, but the swelling continues in my left leg and thigh accompanied with spinal pain in my lower back. I work PT and by the time I get home, the left leg and foot is so swollen, all I can do is prop it, take my medicines and try to keep still. I’m very scared about this and can’t seem to find any answer to my condition.

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