A neonate presenting with jaundice, anemia, and thrombocytopenia

Hager, Helle Borgstrøm; Andersen, Mari Tjernsmo

doi:10.1182/blood-2018-01-827063

Cited by 12 publications

(11 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Of course, these data and the data from Japan 22,28 and Norway 27 only include infants who were effectively, although empirically, treated and survived. We assume that infants with severe hemolysis and thrombocytopenia who were not treated with plasma or whole blood exchange transfusion died 30 . The extreme risk at birth has been attributed to the turbulence of the bidirectional blood flow through the patent ductus arteriosus 22,23 .…”

Section: Discussionmentioning

confidence: 99%

Recognizing and managing hereditary and acquired thrombotic thrombocytopenic purpura in infants and children

Siddiqui

Journeycake

Borogovac

et al. 2021

Pediatric Blood & Cancer

View full text Add to dashboard Cite

We describe how infants and children with hereditary and acquired autoimmune thrombotic thrombocytopenic purpura (TTP) initially present and how they can be promptly diagnosed and effectively managed. These are uncommon disorders that are commonly misdiagnosed and can be rapidly fatal. TTP is caused by a severe deficiency of the plasma protease, A disintegrin and Metalloprotease with a ThromboSpondin type 1 motif, member 13 (ADAMTS13). Measurement of ADAMTS13 activity is becoming easily accessible. A common presentation of hereditary TTP is neonatal severe hemolysis and hyperbilirubinemia. However, the median age of diagnosis is not until 5.5 years. Plasma is effective treatment for exacerbations and for prophylaxis. Plasma may be replaced by recombinant ADAMTS13 when it becomes available. Acquired TTP is more frequent in older children, in whom it is more common in girls and is commonly associated with systemic lupus erythematosus. For acquired TTP, plasma exchange and immunosuppression are the current treatment for acute episodes; caplacizumab is now commonly used in adults and may replace plasma exchange.

show abstract

Section: Discussionmentioning

confidence: 99%

Recognizing and managing hereditary and acquired thrombotic thrombocytopenic purpura in infants and children

Siddiqui

Journeycake

Borogovac

et al. 2021

Pediatric Blood & Cancer

View full text Add to dashboard Cite

show abstract

“…This is also true for families in whom newborn babies have died within the first hours to days of life having displayed thrombocytopenia, anemia, and gross hemolysis. 53 Of note, cord blood can be used for ADAMTS13 activity determination. Although information of normal ranges of ADAMTS13 activity in cord blood and the neonatal period is lacking, values in healthy newborns are typically around 50% (30-70%).…”

Section: Discussion and Outlookmentioning

confidence: 99%

“…22,23,26 The third important situation to consider hTTP is in patients presenting with TIA, stroke, or arterial thrombotic events at young age ( 40-50 years), particularly when concurrent thrombocytopenia or hemolysis is present. 6,10,14,15,24,52,53 It should be noted that thrombocytopenia or hemolysis may be mild, in contrast to the usually pronounced thrombocytopenia (and hemolysis) in immunemediated TTP.…”

Section: Discussion and Outlookmentioning

confidence: 99%

Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland

et al. 2020

View full text Add to dashboard Cite

The Hereditary TTP Registry is an international cohort study for patients with a confirmed or suspected diagnosis of hereditary thrombotic thrombocytopenic purpura (hTTP) and their family members. Hereditary TTP is an ultra-rare blood disorder (prevalence of ∼1–2 cases per million), the result of autosomal-recessively inherited congenital ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) deficiency (ADAMTS13 activity <10% of the normal), and associated with yet many unanswered questions. Until December 2017, the Hereditary TTP Registry had enrolled 123 confirmed hTTP patients. Their median age at disease onset was 4.5 years (range: 0–70) and at clinical diagnosis 16.7 years (range: 0–69), a difference that highlights the existing awareness gap in recognizing hTTP. The systematic collection of clinical data of individual patients revealed their substantial baseline comorbidities, as a consequence of recurring TTP episodes in the past. Most notable was the high proportion of patients having suffered from premature arterial thrombotic events, mainly transient ischemic attacks, ischemic strokes, and to a lesser extent myocardial infarctions. At 40 to 50 years of age and above, more than 50% of patients had suffered from at least one such event, and many had experienced arterial thrombotic events despite regular plasma infusions every 2 to 3 weeks that supplements the missing plasma ADAMTS13. The article by van Dorland et al. (Haematologica 2019;104(10):2107–2115) and the ongoing Hereditary TTP Registry cohort study were recognized with the Günter Landbeck Excellence Award at the 50th Hemophilia Symposium in Hamburg in November 2019, the reason to present the Hereditary TTP Registry in more detail here.

show abstract

“…18 ADAMTS13 sequence analysis confirmed the diagnosis in 2 other infants in whom hTTP was first suspected after death. 19,20 The other 6 infants who died had clinical and/or autopsy features consistent with TTP. They were older siblings of patients who were subsequently diagnosed with hTTP.…”

Section: Diagnosismentioning

confidence: 99%

Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura

Borogovac¹,

Reese

Gupta³

et al. 2022

Blood Advances

View full text Add to dashboard Cite

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 ADAMTS13 replacement 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. In 202 patients the age at diagnosis was reported; 117 were female, 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 or cardiac injury, that occurred at a median age of 21 years. Sixty-two patients had stroke; 13 strokes occurred in children ≤10 years old. Of the 54 patients who survived their initial major morbidity and were subsequently followed, 37 (69%) had sustained or subsequent major morbidities. Of the 39 patients who were followed past age 40, 20 (51%) had experienced a major morbidity. Compared to age and gender-matched United States 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 begun at a younger age are required to improve health outcomes.

show abstract

A neonate presenting with jaundice, anemia, and thrombocytopenia

Cited by 12 publications

References 0 publications

Recognizing and managing hereditary and acquired thrombotic thrombocytopenic purpura in infants and children

Recognizing and managing hereditary and acquired thrombotic thrombocytopenic purpura in infants and children

Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland

Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura

Contact Info

Product

Resources

About