Understanding your cTTP diagnosis

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I have just been diagnosed with cTTP, what does that mean?

What is cTTP?

Thrombotic Thrombocytopenic Purpura (TTP) is a rare blood disorder, that affects between 2 to 10 people in every million per year. TTP can be life-threatening and without treatment, it can cause long-term problems to organs such as the brain.1-4 There are two main types of TTP: congenital (inherited) and immune-mediated (acquired). Congenital Thrombotic Thrombocytopenic Purpura (cTTP), also known as Upshaw-Schulman syndrome, is a serious and ultra-rare condition where small blood clots form in blood vessels due to a problem with the ADAMTS13 enzyme. This can lead to low platelet counts and destruction of red blood cells.

cTTP occurs when a person is born with a faulty gene responsible for producing ADAMTS13, leading to a deficiency of this enzyme. This condition is present throughout life and is inherited from parents who each carry half of the nonworking gene.2 It is even rarer than immune-mediated TTP (acquired TTP).1,3

Immune-mediated TTP typically develops later in life and is triggered by factors such as medications, infections, pregnancy and certain underlying health conditions. In immune-mediated TTP, the body's immune system starts producing antibodies that interfere with ADAMTS13, causing the condition to develop.1-3

Congenital means that cTTP is a form of TTP present from birth.

Thrombotic means that blood clots form.2

Thrombocytopenia means that there is a low number of platelets, which help with clotting.2

Purpura means there are purple spots or bruises on the skin.2

What are the symptoms of cTTP?

cTTP symptoms are caused by abnormal blood clots, damaged red blood cells and a low level of platelets (cells in the blood which help with clotting).2 Abnormal blood clots can make it difficult for blood to flow to the rest of the body, while low platelets can mean people bleed more after an injury.2 cTTP can be diagnosed in early childhood or experienced for the first time during adulthood or in pregnancy.1

cTTP can cause various symptoms2,4,5

A white outline of the side profile of a head with white dots where the brain would be. Some of the dots are spilling out of the back of the head. The background is orange.

Feeling weak or tired

White outline of a person's torso and head with four lightning bolts coming from their shoulders. The background is orange.

Bruises or blotches on the skin

White outline of a thermometer with an upwards arrow. The background is orange.

A high temperature (fever)

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Headache

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Feeling confused or having speech changes 

White outline of a hand with the index finger pointed and a droplet coming from it. The background is orange.

Bleeding (for example, from the nose or gums)

White outline of a person's torso and head with a heart containing an ECG trace.

Shortness of breath or a fast heart rate

White outline of an eye on an orange background.

The skin or whites of the eyes appearing yellow (jaundice)

White outline of a person with white zag zags either side of them. The background is orange

Having lower amount of urine

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Abdominal pain

Symptoms can come on suddenly and last for days or weeks. If you would like some more information or support, you can speak to your doctor or nurse.

Acute events

There may be times when TTP symptoms need urgent medical attention – this is known as an acute TTP event.6 Symptoms of an acute TTP event can lead to serious health problems if they are left untreated.3,4

Need a quick refresher? The “Understanding TTP” video highlights some key points about the condition and its symptoms.

Your cTTP care

Your doctor and nurse will work with you to come up with a care plan that works best for you, and they will explain what your management options involve. You may also have blood tests to help guide the management of your condition.

Managing cTTP4,6,7

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Preventative (prophylactic) treatment is given regularly to prevent any future acute TTP events and to stop symptoms from becoming worse.4,6

A white hospital bed and clock icon with an arrow indicating time passing. The background is orange.

On-demand (acute) treatment is given at the hospital during an acute TTP event until your symptoms are managed.

Further reading

Man wearing green, writing in a book, pointing at a lightbulb above his head. A speech bubble is coming from him with lines indicating words.

Steps to take after diagnosis

Explore some simple but effective steps you can take moving forward.

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Daily life with cTTP

How to try to keep doing the things most important to you after your diagnosis.

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The information provided on this website is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any concerns or questions you may have regarding your medical condition or treatment.

References

  1. TTP Network. Available at: https://www.ttpnetwork.org.uk/about-ttp. Accessed August 2024.
  2. National Heart, Lung, and Blood Institute. Available at: www.nhlbi.nih.gov/health/thrombotic-thrombocytopenic-purpura. Accessed August 2024.
  3. Sukumar S, et al. J Clin Med. 2021;10:536.
  4. Oladapo AO, et al. Patient. 2019;12(5):503–512.
  5. Joly BS, et al. Blood. 2017;129(21):2836​–2846.
  6. Tarasco E, et al. Blood. 2021;137(25):3563​–3575.
  7. Sakai K, Matsumoto M. J Clin Med. 2023;12(10):3365.