GlobalResearch and clinical trials
Recombinant ADAMTS13 enzyme in congenital TTP: final results of a phase 3 study published
A total of 48 people aged 3–68 with congenital TTP took part in the study.
Blood and immune system diseases
A rare blood disease in which clots form in small blood vessels. Blood platelets fall, and red blood cells break down. Organs such as the brain and kidneys can be affected.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Blood and immune system diseases” group.
An enzyme called ADAMTS13 keeps blood clotting in balance. In TTP, this enzyme works very little. Because of this, clumps of platelets form in small blood vessels. These clumps reduce the blood going to organs such as the brain and kidneys. In the acquired type, the immune system makes antibodies against the enzyme. In the rarer inborn type, the gene for the enzyme is faulty.
Symptoms can begin suddenly. Pregnancy, infection or surgery can trigger an attack.
A blood count, a blood smear and tests showing the breakdown of blood are done. Measuring ADAMTS13 enzyme activity in the blood confirms the diagnosis. In the acquired type, antibodies against this enzyme are found in the blood. If the inborn type is suspected, a genetic test is done.
In the acquired type, the main treatment is plasma exchange. In this procedure, the liquid part of the blood is removed and replaced with donor plasma. Medicines that suppress the immune system are also used. For this type, there is also an approved medicine specific to the disease that prevents clot formation. In the inborn type, plasma is given regularly. For this type, there is also an approved enzyme replacement therapy. The doctor who follows the disease decides which treatment is suitable.
The acquired type is not inherited and is much more common. The inborn type is passed on through recessive inheritance. The mother and father are carriers but are usually not ill. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Recessive diseases may be more common in marriages between relatives. Genetic counselling guides the family.
Source: MedlinePlus Genetics: Thrombotic thrombocytopenic purpura · MedlinePlus: Thrombotic thrombocytopenic purpura (TTP) · NORD: Thrombotic Thrombocytopenic Purpura
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
GlobalResearch and clinical trials
A total of 48 people aged 3–68 with congenital TTP took part in the study.
TürkiyeResearch and clinical trials
In Türkiye, 215 patients from 19 hematology centers were enrolled in the registry.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
Questions you can ask your doctor
ClinicalTrials.gov lists 6 active interventional studies for this disease. 3 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)RecruitingNCT06831058
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)RecruitingNCT06794008
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)Active, not recruitingNCT04683003
Late stage: the effect is being compared in a large group · Phase 2 / Phase 3 · investigational (experimental)Not yet recruitingNCT05568147
Non-drug study (device, procedure, care, etc.)RecruitingNCT06928233
See all studies on ClinicalTrials.gov · Joining clinical trials
GlobalHealth policy
The International Pediatric Nephrology Association published its recommendations for diagnosing and treating atypical HUS in children.
GlobalResearch and clinical trials
Researchers re-examined the data from a large drug study.
TürkiyeResearch and clinical trials
A face-to-face survey was conducted with 104 PNH patients at 18 centers in Türkiye.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:54057 · ICD-11 3B64.14
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.