A successfully treated case of an acute presentation of congenital thrombotic thrombocytopenic purpura (Upshaw–Schulman syndrome) with decreased ADAMTS13 during late stage of pregnancy

2021 ◽  
Author(s):  
Taro Nonaka ◽  
Masayuki Yamaguchi ◽  
Koji Nishijima ◽  
Masato Moriyama ◽  
Koichi Takakuwa ◽  
...  
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Late Stage ◽  
Thrombocytopenic Purpura ◽  
Acute Presentation ◽  
Congenital Thrombotic Thrombocytopenic Purpura

scholarly journals Characterization and treatment of congenital thrombotic thrombocytopenic purpura

Blood ◽  
2019 ◽  
Vol 133 (15) ◽  
pp. 1644-1651 ◽  
Author(s):  
Ferras Alwan ◽  
Chiara Vendramin ◽  
Ri Liesner ◽  
Amanda Clark ◽  
William Lester ◽  
...  
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Age Of Onset ◽  
Organ Damage ◽  
Compound Heterozygous ◽  
Prophylactic Therapy ◽  
Thrombocytopenic Purpura ◽  
Stroke Incidence ◽  
End Organ Damage ◽  
Congenital Thrombotic Thrombocytopenic Purpura ◽  
Diagnosis Age

Abstract Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra-rare thrombomicroangiopathy caused by an inherited deficiency of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13). There are limited data on genotype-phenotype correlation; there is no consensus on treatment. We reviewed the largest cohort of cTTP cases, diagnosed in the United Kingdom, over the past 15 years. Seventy-three cases of cTTP were diagnosed, confirmed by genetic analysis. Ninety-three percent were alive at the time of review. Thirty-six percent had homozygous mutations; 64% had compound heterozygous mutations. Two presentation peaks were seen: childhood (median diagnosis age, 3.5 years) and adulthood, typically related to pregnancy (median diagnosis age, 31 years). Genetic mutations differed by age of onset with prespacer mutations more likely to be associated with childhood onset (P = .0011). Sixty-nine percent of adult presentations were associated with pregnancy. Fresh-frozen plasma (FFP) and intermediate purity factor VIII concentrate were used as treatment. Eighty-eight percent of patients with normal blood counts, but with headaches, lethargy, or abdominal pain, reported symptom resolution with prophylactic therapy. The most common currently used regimen of 3-weekly FFP proved insufficient for 70% of patients and weekly or fortnightly infusions were required. Stroke incidence was significantly reduced in patients receiving prophylactic therapy (2% vs 17%; P = .04). Long-term, there is a risk of end-organ damage, seen in 75% of patients with late diagnosis of cTTP. In conclusion, prespacer mutations are associated with earlier development of cTTP symptoms. Prophylactic ADAMTS13 replacement decreases the risk of end-organ damage such as ischemic stroke and resolved previously unrecognized symptoms in patients with nonovert disease.

scholarly journals Pregnancy onset congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) mimicking HELLP syndrome: a case report

2021 ◽  
Vol 29 (3) ◽  
pp. 270-273
Author(s):  
Başak Ergin ◽  
Berna Buse Kobal ◽  
Zeynep Yazıcı ◽  
Ali Hakan Kaya ◽  
Sezin Canbek ◽  
...  
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Hellp Syndrome ◽  
Epigastric Pain ◽  
Novel Mutation ◽  
Adamts13 Activity ◽  
Thrombotic Microangiopathies ◽  
Thrombocytopenic Purpura ◽  
Uremic Syndrome ◽  
Congenital Thrombotic Thrombocytopenic Purpura ◽  
Low Platelet Count

Objective Thrombotic thrombocytopenic purpura is a thrombotic microangiopathic condition characterized by hemolytic anemia, thrombocytopenia, neurologic abnormalities, fever and renal dysfunction. Thrombotic microangiopathies such as preeclampsia and HELLP syndrome are pregnancy-specific, whereas others such as thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome are not. In this report, we present a case at which we identified a novel mutation which led to a significant reduction of ADAMTS13 activity. Case(s) A nulliparous pregnant woman of 32-year-old presenting with epigastric pain, hypertension and low platelet count was first suspected of HELLP syndrome, but was diagnosed with congenital TTP after delivery. Conclusion HELLP syndrome co-existed with undiagnosed TTP in this case. We strive to have sufficient awareness in order to distinguish these two pathologies from each other on an antenatal basis, because the causes of the managements are entirely different.

Congenital thrombotic thrombocytopenic purpura with novel mutations in three unrelated turkish children

2013 ◽  
Vol 61 (3) ◽  
pp. 558-561 ◽  
Author(s):  
Ayse Metin ◽  
Sule Unal ◽  
Fatma Gümrük ◽  
Roberta Palla ◽  
Andrea Cairo ◽  
...  
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Novel Mutations ◽  
Thrombocytopenic Purpura ◽  
Turkish Children ◽  
Congenital Thrombotic Thrombocytopenic Purpura

Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations

2012 ◽  
Vol 59 (7) ◽  
pp. 1296-1298 ◽  
Author(s):  
Timothy D. Prestidge ◽  
Erica Rurali ◽  
Louis Wadsworth ◽  
John K. Wu ◽  
Jane C. Moore ◽  
...  
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Novel Mutations ◽  
Thrombocytopenic Purpura ◽  
Congenital Thrombotic Thrombocytopenic Purpura

scholarly journals Multiplein silicotools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura

2013 ◽  
Vol 160 (6) ◽  
pp. 825-837 ◽  
Author(s):  
Zachary A. Hing ◽  
Tal Schiller ◽  
Andrew Wu ◽  
Nobuko Hamasaki-Katagiri ◽  
Evi Budo Struble ◽  
...  
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Thrombocytopenic Purpura ◽  
Congenital Thrombotic Thrombocytopenic Purpura
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