Hereditary thrombotic thrombocytopenic purpura: a case report.
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SUBMITTER: Borborema TS
PROVIDER: S-EPMC9123582 | biostudies-literature | 2022 Apr-Jun
REPOSITORIES: biostudies-literature
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Hereditary thrombotic thrombocytopenic purpura: a case report.
Borborema Tarcísio S TS Diniz Sabrina Stephanie L SSL Lima Joziele de S JS Costa Fernanda F FF Murao Mitiko M Campos Marcia K MK
Hematology, transfusion and cell therapy 20200913 2
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Project description:BackgroundMutations in the ADAMTS13 gene can lead to an ADAMTS13 enzyme deficiency, which is related to Upshaw-Schulman syndrome (USS). USS is a common type of thrombotic thrombocytopenic purpura (TTP). Here we present a very rare case of TTP caused by 2 mutations in the ADAMTS13 gene. Besides, we reviewed and summarized previous pathogenic ADAMTS13 gene mutations associated with the TTP.Case presentationA 10-year-old female was admitted to the Third Xiangya Hospital of Central South University after experiencing discontinuous thrombocytopenia for 8 years, abnormal renal function for more than 2 years, cough for more than 10 days, and weakness of the left limb for 3 days. Gene sequencing shows the patient's ADAMTS13 gene contains compound heterozygous nucleotide variations: c.1335delC (p. Phe445LeufsTer52) is a frameshift variation inherited from her father and c.2130C > G (p. Cys710Trp) is a missense variation inherited from her mother. The final diagnosis was USS.ConclusionsOur study reports a very rare genetic TTP case caused by two compound heterozygous variants in the ADAMTS13 gene. The effect of these two mutations on the secretion of ADAMTS13 requires further in vitro experiments to confirm.
| S-EPMC8549186 | biostudies-literature
Project description: Not available
| S-EPMC9175757 | biostudies-literature
Project description: Not available
| S-EPMC9262856 | biostudies-literature
Project description:Introduction and importanceThrombotic thrombocytopenic purpura (TTP) is a rare disease due to deficiency of ADAMTS13 which can present with anemia and thrombocytopenia. The study highlights the role of PLASMIC score in diagnosis and rituximab in the treatment of this condition.Case presentationHerein, we report a case of 38 years old female who had presented with fever, irritability, and altered sensorium. On investigations, she had hemolytic anemia, and thrombocytopenia with peripheral blood smear showing occasional schistocytes and managed with steroids and plasma exchange. As her platelet, LDH, and a few other lab parameters failed to normalize and met the criteria of refractory TTP, hence she was started on 5 cycles of rituximab and her condition improved.Clinical discussionThrombotic thrombocytopenic purpura can be presumed based upon PLASMIC score where if the score is 5 or more while ADAMTS13 assay is required for confirmation. It is a life-threatening condition where treatment options include therapeutic plasma exchange (PEX), glucocorticoids, Rituximab, and caplacizumab. Rituximab is considered particularly in refractory cases.ConclusionThrombotic thrombocytopenic purpura can lead to complications due to low platelet counts. Hence, early diagnosis and intervention are crucial to prevent such complications.
| S-EPMC9577965 | biostudies-literature
Project description:This case report details the presentation of a 24-year-old male presenting with headache, palpitations, gingival bleeding, and pallor. The ultimate diagnosis of thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening condition which is typically hallmarked by thrombotic microangiopathy (TMA) and dysfunctional ADAMTS13 enzymatic activity. This patient displayed classically described findings, including marked anemia, thrombocytopenia, and acutely elevated creatinine as well as a brief period of newly onset word-finding difficulty while in the emergency department. His diminished ADAMTS13 activity level (<5%) and the presence of autoantibodies against ADAMTS13 confirmed a diagnosis of TTP. Fortunately, the patient's outcome was favorable after treatment with plasmapheresis, prednisone, and rituximab. This case report provides a review of the clinical presentation, diagnostic criteria, potentially confounding differential diagnosis, and expected course of treatment for patients with TTP.TopicsThrombotic thrombocytopenic purpura (TTP), ADAMTS13, anemia.
| S-EPMC10332752 | biostudies-literature
Project description:IntroductionPost-partum TTP is an uncommon thrombotic microangiopathy affecting about 1 in 200,000 pregnancies in contrast to preeclampsia and HUS, which have been reported commonly.Case presentationWe report a case of a postpartum TTP following purpureal sepsis. The patient was brought with per vaginal bleed, vomiting, chest pain, yellow discoloration of sclera, and abdominal discomfort following a spontaneous vaginal delivery two days back at a hospital.Clinical findings and investigationsThe workup revealed anemia and thrombocytopenia with deranged PT/INR. The renal profile deteriorated over one day and she also developed psychosis. Additionally, schistocytes were observed on the peripheral blood smear.Interventions and outcomeThe patient was subsequently treated with dialysis followed by plasmapheresis in addition to the antibiotics after the diagnosis of TTP and made a complete recovery.Relevance and impact25% of TTP occurs in the intra or postpartum period. It is thus pivotal to keep it among differentials and intervened timely to reduce morbidity and mortality. Vigilance is required to prevent any relapse in subsequent pregnancies.
| S-EPMC9793132 | biostudies-literature
Project description:Thrombotic thrombocytopenic purpura (TTP) is a clearly defined entity of the thrombotic microangiopathies (TMA), a heterogeneous group of disorders characterized by microangiopathic hemolytic anemia with red cell fragmentation, thrombocytopenia and organ dysfunction due to disturbed microcirculation. TTP is characterized by a severe deficiency of ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13), an enzyme responsible for physiological cleavage of von Willebrand factor (VWF). Organ dysfunction can be severe and life-threatening, and immediate start of appropriate therapy is necessary to avoid permanent damage or death. Until recently, therapeutic options were limited to symptomatic measures, which were not standardized or based on high scientific evidence. In recent years, not only considerable progress has been made in better diagnosis of TTP, but also new therapeutic strategies have been established. Initial treatment is still based on plasma exchange and symptomatic measures to protect organ function, but new concepts (immunosuppression, targeted anti-VWF or anti-complement therapy, replacement with recombinant enzymes) have recently demonstrated impressive advantages.
| S-EPMC6132833 | biostudies-literature
Project description:Hereditary thrombotic thrombocytopenic purpura (TTP) is a genetic condition caused by mutations in ADAMTS13 gene, leading to very low levels of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type I domain 13) activity. It is a rare condition associated with multiple reported mutations. Here, we describe a case of hereditary TTP with a compound novel heterozygous mutation along with secondary focal segmental glomerulosclerosis. The patient responded clinically to plasma infusions with resolution of thrombocytopenia, stabilization of renal function, and control of blood pressures. Genetic analysis of the entire family helped in the characterization of the inheritance of this mutation. Our case illustrates the need for focused genetic analysis in a subset of patients presenting with features of TTP to decide the therapeutic plan and manage accordingly.
| S-EPMC6668320 | biostudies-literature
Project description:IntroductionThe proliferation of literature regarding the COVID-19 pandemic has served to highlight a wide spectrum of disease manifestations and complications, such as thrombotic microangiopathies. Our review with a brief case presentation highlights the increasing recognition of TTP in COVID-19 and describes its salient characteristics.MethodsWe screened the available literature in PubMed, EMBASE, and Cochrane databases from inception until April 2022 of articles mentioning COVID-19-associated TTP in English language.ResultsFrom 404 records, we included 8 articles mentioning data of 11 patients in our review. TTP was predominantly reported in females (72%) with a mean age of 48.2 years (SD 15.1). Dyspnea was the most common symptom in one third of patients (36.6%). Neurological symptoms were reported in 27.3% of cases. The time to diagnosis of TTP was 10 days (SD 5.8) from onset of COVID-19. All 11 cases underwent plasma exchange (PLEX), with a mean of 12 sessions per patient, whereas 6 cases received Rituximab (54.5%), and 3 received Caplacizumab (27.3%). One patient died from the illness.ConclusionThis review of available literature highlights the atypical and refractory nature of COVID-19-associated TTP. It required longer sessions of PLEX, with half of the patients receiving at least one immunosuppressant.
| S-EPMC9397065 | biostudies-literature
Project description:Hereditary thrombotic thrombocytopenic purpura (hTTP) is a rare disorder caused by severe ADAMTS13 deficiency. Major morbidities and death at a young age are common. Although replacement of ADAMTS13 can prevent morbidities and death, current regimens of plasma prophylaxis are insufficient. We identified 226 patients with hTTP in 96 reports published from 2001 through 2020. Age at diagnosis was reported for 202 patients; 117 were female and 85 were male. The difference was caused by diagnosis of 34 women during pregnancy, suggesting that many men and nulliparous women are not diagnosed. Eighty-three patients had severe jaundice at birth; hTTP was suspected and effectively treated in only 3 infants. Of the 217 patients who survived infancy, 73 (34%) had major morbidities defined as stroke, kidney injury, or cardiac injury that occurred at a median age of 21 years. Sixty-two patients had stroke; 13 strokes occurred in children age 10 years or younger. Of the 54 patients who survived their initial major morbidity and were subsequently observed, 37 (69%) had sustained or subsequent major morbidities. Of the 39 patients who were observed after age 40 years, 20 (51%) had experienced a major morbidity. Compared with an age- and sex-matched US population, probability of survival was lower at all ages beginning at birth. Prophylaxis was initiated in 45 patients with a major morbidity; in 11 (28%), a major morbidity recurred after prophylaxis had begun. Increased recognition of hTTP and more effective prophylaxis started at a younger age are required to improve health outcomes.
| S-EPMC8945298 | biostudies-literature