What are the other Names for this Condition? (Also known as/Synonyms)

• Moschcowitz Disease
• TTP (Thrombotic Thrombocytopenic Purpura)
• Upshaw-Schulman Syndrome

What is Thrombotic Thrombocytopenic Purpura? (Definition/Background Information)

• Thrombotic Thrombocytopenic Purpura (TTP) is an uncommon disorder that occurs when clots form in the small blood vessels of the body. Numerous small clots formed all over the body can affect various organs such as the heart, kidney, brain, etc.
• The terminology Thrombotic Thrombocytopenic Purpura can be explained as a collection of 3 terms - blood clots (thrombotic); lower than normal/optimal number of platelets in blood (thrombocytopenic); and purple spots under the skin (purpura)
• Because TTP is characterized by clots throughout the body, platelets (which are produced from the bone marrow and are responsible for sealing-off surfaces that are detached due to an injury) get spent, which in turn causes a decrease in the platelet count
• The inherited form of TTP may run in families. The cause for acquired TTP remains unclear; however, certain conditions, such as cancer and treatments for cancer (chemotherapy), are known to predispose an individual to the disorder
• The most typical symptom of Thrombotic Thrombocytopenic Purpura is bleeding under the skin, which forms red or purple dots. The diagnosis of TTP may be undertaken through physical examinations, medical history analysis, blood tests and other tests, as needed
• Individuals with Thrombotic Thrombocytopenic Purpura may be treated through blood plasma infusion, when warranted. A prompt treatment of the condition can help make it more manageable

Who gets Thrombotic Thrombocytopenic Purpura? (Age and Sex Distribution)

• The incidence of diagnosis of new cases of Thrombotic Thrombocytopenic Purpura is around 4-5 per million per year
• In the acquired form of TTP, more adults are affected, compared to children. The inherited form of TTP is observed more frequently in neonates (newborns)
• Although the condition is observed in both genders, women are reportedly more prone to it than men
• All racial and ethnic groups are at risk; but, TTP appears to be more prevalent in individuals of African descent

What are the Risk Factors for Thrombotic Thrombocytopenic Purpura? (Predisposing Factors)

The risk factors for the development of Thrombotic Thrombocytopenia Purpura include:

• Having a family history for the condition: Individuals, who have close members, such as siblings or relatives (blood-relatives), have a higher probability for developing it
• Those with conditions such as cancer, lupus etc.
• Undergoing chemotherapy

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Thrombotic Thrombocytopenic Purpura? (Etiology)

Thrombotic Thrombocytopenic Purpura could either be inherited or acquired.

• The inherited form of TTP occurs as a result of impaired activity of ADAMSTS13 enzyme, coded by ADAMSTS13 gene. This enzyme is involved in blood clotting. Having a close blood-relative with TTP, increases one’s probability of the condition
• The cause for the development of acquired TTP is unclear. However, it has been reported that:
  • Having particular health conditions, such as cancer, lupus, infections, or being pregnant, and post-partum phase, can predispose an individual to TTP
  • Undergoing certain treatments or procedures could potentially lead to the progression of this condition
  • Chemotherapy medications or undergoing hormonal therapy  could also potentially lead to TTP
  • Ingestion of quinine (in tonic water) could trigger TTP

What are the Signs and Symptoms of Thrombotic Thrombocytopenic Purpura?

The signs and symptoms of Thrombotic Thrombocytopenic Purpura include:

• Bleeding under the skin that causes the characteristic red or purple spots on skin; change in skin color
• Lack of concentration and awareness
• Fatigue
• Throbbing headache
• Fever
• Heart palpitations
• Difficulty breathing
• Difficulties with speech

How is Thrombotic Thrombocytopenic Purpura Diagnosed?

A healthcare provider may employ one or more of the following methods to diagnose Thrombotic Thrombocytopenic Purpura:

• Analyzing patient history (family history, predisposing factors, etc.)
• A thorough physical examination (focus on heart, lung, kidney functions, skin color and condition)
• Blood tests to detect levels of ADAMTS13 activity, platelet count, von Willebrand factor activity
• Testing levels of bilirubin and creatinine, as well as urinalysis, to evaluate and assess the function of vital organs
• If necessary, imaging studies to examine the organs

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Thrombotic Thrombocytopenic Purpura?

Thrombotic Thrombocytopenic Purpura, if not treated promptly, could lead to a variety of complications within the body, including:

• Abnormalities in kidney function
• Brain damage, stroke
• Lack of red blood cells
• Central nervous system related signs and symptoms

How is Thrombotic Thrombocytopenic Purpura Treated?

Treatment options for Thrombotic Thrombocytopenic Purpura include:

• A procedure called plasmapheresis, in which fresh frozen plasma is infused into the patient 
• If an individual does not respond to plasmapheresis, he/she might need other treatments such as surgery to remove spleen
• Following this, appropriate medication could be administered to help the patient rebuild his/her immunity

How can Thrombotic Thrombocytopenic Purpura be Prevented?

• Currently, there are no specific methods or guidelines to prevent Thrombotic Thrombocytopenic Purpura, if it is an inherited genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• The cause of acquired Thrombotic Thrombocytopenic Purpura is unclear. However, understanding the triggers for the onset of the condition (such as chemotherapy, hormonal therapy, pregnancy, etc.) could help one be cognizant of the risks for developing the condition

What is the Prognosis of Thrombotic Thrombocytopenic Purpura? (Outcomes/Resolutions)

• A prompt treatment for Thrombotic Thrombocytopenic Purpura can lead to optimal outcomes
• However, a lack of treatment can lead to several health complications that can potentially be fatal
• The mortality rate without treatment is around 80%, and with treatment (especially with plasma exchange), the survival rate is around 90%

Additional and Relevant Useful Information for Thrombotic Thrombocytopenic Purpura:

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/diseases-conditions/blood-disorders/