Late Onset of Congenital TTP: Case Presentation and Review of the Literature.
Background: Congential thrombotic thrombocytopenic purpura (cTTP) is a ultrarare genetic disorder caused by reduced or absent ADAMTS13 enzyme activity. In contrast to the acquired form of TTP, which results from inhibitory autoantibodies against ADAMTS13, cTTP arises due to mutations in the ADAMTS13...
| Publicado en: | Clinical Medicine Insights: Case Reports Vol. 19; pp. 1 - 9 |
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| Autores principales: | , , |
| Formato: | algorithm case study tables/charts Journal Article |
| Publicado: |
Sage Publications Inc.
2/18/2026
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=191727719&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 191727719 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 11795476 B3KM jtl: Clinical Medicine Insights: Case Reports issn: 11795476 maglogo: Y pubinfo: dt: 2/18/2026 vid: 19 pid: 344 pub: Sage Publications Inc. place: Thousand Oaks, California artinfo: ui: 191727719 191727719 191727719 10.1177/11795476261421638 191727719 ppf: 1 ppct: 8 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Late Onset of Congenital TTP: Case Presentation and Review of the Literature. aug: au: Chatzisfetkos, Athanasios Bergmann, Carsten Janssen, Ulf affil: Department of Nephrology and Diabetology, Kliniken Maria Hilf, Mönchengladbach, Germany sug: subj: Purpura, Thrombotic Thrombocytopenic Familial and Genetic Anemia, Hemolytic Purpura, Thrombotic Thrombocytopenic Symptoms Purpura, Thrombotic Thrombocytopenic Physiopathology Kidney Failure, Acute Adult Purpura, Thrombotic Thrombocytopenic Diagnosis Female Genetic Screening Treatment Delay Diagnosis, Differential Thrombosis Blood Coagulation Disorders, Inherited Adult: 19-44 years Female ab: Background: Congential thrombotic thrombocytopenic purpura (cTTP) is a ultrarare genetic disorder caused by reduced or absent ADAMTS13 enzyme activity. In contrast to the acquired form of TTP, which results from inhibitory autoantibodies against ADAMTS13, cTTP arises due to mutations in the ADAMTS13 gene and lacks such inhibitors. cTTP commonly manifests during infancy through recurrent episodes of hemolytic anemia and signs of microvascular damage. Episodes are often precipitated by infections or physical stressors. Case presentation: A 23-year-old female patient presented to the emergency department with microangiopathic hemolytic anemia (MAHA), a reduced platelet count and acute kidney injury stage 3 (AKI 3). Three days before she had suffered a knee injury, which was treated with fentanyl. The peripheral-blood smear showed many schistocytes. A thrombotic microangiopathy was suspected and therapeutic plasma exchange (TPE) was initiated. ADAMTS13 activity on admission was 4% without a detectable inhibitory antibody and an inherited ADAMTS13 deficiency was suspected. Genetic testing revealed 2 presumably compound heterozygous variants in the ADAMTS13 gene, confirming the diagnosis of cTTP. After 3 TPE platelet count raised significantly with improvement of renal function. Thereafter the patient received prophylactic plasma infusions every 2 to 3 weeks. At 1-year follow-up she had a normal renal function and no recurrence of hemolytic anemia. Conclusion: The present case of cTTP is notable for its late onset at first presentation, with unusual severe renal impairment. Rapid diagnosis and timely initiation of treatment are critical. Differential diagnoses such as malignant hypertension, sepsis, and autoimmune diseases like systemic lupus erythematosus must be excluded. pubtype: Academic Journal doctype: algorithm case study tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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