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Delayed diagnosis of congenital thrombotic thrombocytopenic purpura in a patient with recurrent strokes.

ABSTRACT: Congenital thrombotic thrombocytopenic purpura (cTTP) is caused by ADAMTS13 mutations and associated with high risk of microvascular thrombosis. A 58 year old female had an ischemic stroke during hormonal fertility, and a TIA a year after. She suffered another stroke 18 years later while on warfarin. Four months after she developed severe thrombocytopenia, mild anemia, and increased LDH. Blood film showed schistocytes. She was hospitalized with presumptive TTP. ADAMTS 13 activity was undetectable without inhibitor. She developed another stroke and received plasma exchange. A homozygote ADAMTS 13 mutation was identified. Despite plasma, the ADAMTS13 activity remained < 10% and she had another stroke. Recombinant ADAMTS13 therapy was obtained through compassionate use. She receives weekly infusions maintaining ADAMTS13 trough levels above 10% without thrombotic recurrences. This case underscores the need to recognize cTTP as a cause of cryptogenic strokes, and the diagnostic value of the peripheral blood film. rADAMTS13 replacement may prevent recurrences.

SUBMITTER: Beltrami-Moreira M

PROVIDER: S-EPMC8754194 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature

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Delayed diagnosis of congenital thrombotic thrombocytopenic purpura in a patient with recurrent strokes.

Beltrami-Moreira Marina M DeSancho Maria T MT

Journal of thrombosis and thrombolysis 20220112 3

Congenital thrombotic thrombocytopenic purpura (cTTP) is caused by ADAMTS13 mutations and associated with high risk of microvascular thrombosis. A 58 year old female had an ischemic stroke during hormonal fertility, and a TIA a year after. She suffered another stroke 18 years later while on warfarin. Four months after she developed severe thrombocytopenia, mild anemia, and increased LDH. Blood film showed schistocytes. She was hospitalized with presumptive TTP. ADAMTS 13 activity was undetectabl ...[more]

PMID: 35022991

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Project description:Background and objectiveThrombotic thrombocytopenic purpura is a rare, life-threatening disorder characterized by microangiopathic hemolytic anemia and thrombocytopenia, with variable clinical manifestations (e.g., central nervous system, renal, gastrointestinal, and cardiac effects). This study's objective was to gain an in-depth understanding of patients' experiences with the congenital form of thrombotic thrombocytopenic purpura, including the most salient symptoms and impacts associated with congenital thrombotic thrombocytopenic purpura and its treatment.MethodsAn initial conceptual model of thrombotic thrombocytopenic purpura symptoms and impacts was derived from a targeted literature review, refined by interviews with expert hematologists, and further refined by concept elicitation telephone interviews with adults with congenital thrombotic thrombocytopenic purpura in the USA. Patients reported the duration, frequency, and severity experienced for each concept, and rated level of disturbance on a minimum to maximum scale of 0-10.ResultsInterviews were conducted with 11 patients (mean age, 38.2 years; range 21-52 years) in three waves (n = 4, n = 4, n = 3). The most salient symptoms (reported most frequently and rated by patients as most disturbing) were fatigue, headache, bruising, joint pain, muscular pain, forgetfulness, and difficulty communicating. The most salient impacts included diminished ability to work/study, financial distress, feeling depressed, feeling anxious, and mood swings. Patients' comments reflected the pervasive nature of congenital thrombotic thrombocytopenic purpura symptoms and impacts, and unmet treatment needs.ConclusionsThe final conceptual model, which includes salient symptoms and impacts of congenital thrombotic thrombocytopenic purpura and reflects the disease burden, was derived by integrating inputs from the literature review, expert opinion, and patient interviews, and will be used to develop a congenital thrombotic thrombocytopenic purpura-specific, patient-reported outcome instrument.

Project description:Congenital thrombotic thrombocytopenic purpura (TTP) is a rare hereditary disease with a high mortality rate; however, improved patient survival is possible with prompt diagnosis and treatment. The clinical features and mutation sites of a disintegrin and metalloproteinase with thrombospondin motifs 13 (ADAMTS13) in congenital TTP were analyzed in a neonate with suspected congenital TTP. High-throughput sequencing, polymerase chain reaction, and Sanger sequencing were utilized for screening of genes related to thrombocytopenic diseases and ADAMTS13 gene mutation testing on blood samples from the neonate and the parents. Domestic and foreign literature reporting the clinical features and variants of ADAMTS13 in neonates with congenital TTP were retrieved, compared, and analyzed. The patient in this case was a girl who had been born for 1 h and admitted to the hospital due to "dyspnea for 1 h." Routine blood tests on admission revealed profound thrombocytopenia. She quickly developed symptoms of systemic hemorrhage and eventually died. The neonate had two older sisters who had died of idiopathic thrombocytopenia and hemorrhage within 24 h of birth. Genetic testing showed that the neonate harbored a compound heterozygous mutation in ADAMTS13, c.1187G>A/c.1595G>T, which is a novel variant. Of the 12 cases (1 case in China and 11 cases in other countries) of congenital TTP in neonates that have been reported globally, ADAMTS13 mutation analysis was only performed in eight neonates. Common clinical manifestations included dyspnea of unknown etiology, bruising, jaundice, hemorrhage, and thrombocytopenia. Hence, the current case contributes to our understanding of the clinical manifestations and types of variants in neonates with congenital TTP. Our results demonstrate the efficacy of high-throughput sequencing technology in genetic testing of neonates suspected with congenital TTP and have revealed a novel compound missense mutation in ADAMTS13 that has not been reported in China or elsewhere.

Dataset Information

Delayed diagnosis of congenital thrombotic thrombocytopenic purpura in a patient with recurrent strokes.

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Delayed diagnosis of congenital thrombotic thrombocytopenic purpura in a patient with recurrent strokes.

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