Thrombotic thrombocytopenic purpura in four siblings

Wallace, David C.; Lovric, A.; Clubb, John S.; Carseldine, D.B.

doi:10.1016/0002-9343(75)90510-0

Cited by 60 publications

(20 citation statements)

References 30 publications

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“…Reports on similar cases with a congenital onset or familial manifestation, compared with first manifestation in adolescence and adulthood, indicated the presence of an inherited and an acquired form of the disease, respectively. [3][4][5][6][7][8][9] Although the beneficial effect of plasma infusions suggested a deficiency of an essential plasma factor in the patients, 4,6 the nature of the diseasecausing factor remained obscure until Moake et al detected unusually large von Willebrand factor (VWF) multimers (ULVWFMs) in the plasma of 4 patients during their remission from TTP. 10 Relapses of TTP were accompanied by a decrease of these ULVWFMs, suggesting consumption by binding to aggregating platelets.…”

Section: Introductionmentioning

confidence: 99%

“…Occasionally, thrombocytopenia can be the only symptom, but the full-blown clinical picture seems to manifest in later childhood or after puberty and to correlate with certain episodes of infection, stress, alcohol consumption, or pregnancy. [3][4][5][6][7][8][9] Therefore, especially in early childhood, oligosymptomatic forms may be more frequent, complicating the differential diagnosis. To assess the clinical picture of VWF-CP deficiency in cases of chronic relapsing thrombocytopenia and hemolytic anemia, we determined VWF-CP activity in children with the presumed diagnosis of ITP, TTP, HUS, and Evans syndrome and carried out mutation analysis of the ADAMTS13 gene to establish the molecular background and the spectrum of mutations in our population.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

von Willebrand factor cleaving protease and ADAMTS13mutations in childhood TTP

Schneppenheim

Budde

Oyen

et al. 2003

Blood

214

191

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

von Willebrand factor cleaving protease and ADAMTS13mutations in childhood TTP

Schneppenheim

Budde

Oyen

et al. 2003

Blood

214

191

View full text Add to dashboard Cite

“…Both TTP and the adult form of HUS predominantly affect young women and are often fatal or lead to end-stage renal disease [3,4]. TTP and HUS of childhood have been reported in siblings [5,6], however, a genetic predisposition to either disorder remains to be convincingly demonstrated. We describe hemolytic ane mia, thrombocytopenia, and renal insufficiency in a mother and daughter, both of svhom were in their third decade at the onset of illness.…”

mentioning

confidence: 99%

Hereditary Thrombotic Thrombocytopenic Purpura: Microangiopathic Hemolytic Anemia, Thrombocytopenia, and Renal Insufficiency Occurring in Consecutive Generations

Kirchner

Smith

Gockerman

et al. 1982

Nephron

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Microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency occurred in a mother and daughter when each was in her third decade. The mother had prominent neurological findings, fever, and expired from renal insufficiency. Her daughter’s only major symptom was renal insufficiency. The similarity of the mother’s illness to thrombotic thrombocytopenic purpura and of the daughter’s to adult hemolytic uremic syndrome suggests that these diseases are variants of a single clinical disorder, while their occurrence in direct descendents strengthens the postulate that in selected instances a genetic predisposition to these disorders may be important.

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“…TTP [2,3,5,11,15,21,41,42,45,49,64,73,103,122,125,126,163,164] must be differentiated from other very similar conditions (Table 1), especially Hemolytic-Uremic Syndrome (HUS) [16,38,39,48,53,55,59,63,[67][68][69][70]72,77,79,81,86,87,91,92,102,106,109,[114][115][116]118,128,133,141,145,147,148,…”

Section: Development Of a Ttp Paradigmmentioning

confidence: 99%

Thrombotic Thrombocytopenic Purpura: An Extended Editorial

Nalbandian¹,

Henry²,

Bick³

2008

Semin Thromb Hemost

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Mystery and perplexity have burdened the history of TTP. The etiology of this disease remains unknown. The pathogenesis has been an enigma. No specific diagnostic test has yet been devised. The diagnosis is made tentatively and with imprecision. The tissue pathologic features are not at all pathognomonic. The laboratory findings are interchangeable with numerous other entities. The treatment is in perpetual debate. This regrettable catalogue of flawless failure also records that a strong clue for life-saving treatment in this deadly disease has been overlooked for half a century, until recent times.We propose new discriminatory, diagnostic standards for the identification of thrombotic thrombocytopenic purpura (TTP). Only by the use of a stringently defined paradigm applied prospectively to TTP will it be possible to understand the pathogenesis, to improve diagnostic accuracy, and especially to evaluate reliably the efficacy of a growing list of therapies. The diagnosis of TTP is in confusion and must be put right.The bleak record of progress in TTP is best regarded as bristling with opportunities for discovery. Continuing investigations by Kwaan [93,96, this issue, and recent discoveries by Byrnes and co-workers [35-37,101, this issue, pages 199-215] have given us invaluable insights into pathogenesis and treatment respectively. Suddenly, we are hopeful that some of our ignorance about TTP will soon vanish.The Byrnes' group has reported that plasma transfusions constitute effective, life-saving treatment in TTP [this issue pages [204][205][206]. This boon, however, is coupled with a hazard. Since TTP is rare, no single group may acquire any substantial clinical experience with the disease. Furthermore, diagnostic criteria for TTP are so non-specific, that more than TTP is so labeled. Thus, a proposed therapy for authentic cases of TTP will appear to be ineffective when inappropriately applied also to cases simulating

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Thrombotic thrombocytopenic purpura in four siblings

Cited by 60 publications

References 30 publications

von Willebrand factor cleaving protease and ADAMTS13mutations in childhood TTP

von Willebrand factor cleaving protease and ADAMTS13mutations in childhood TTP

Hereditary Thrombotic Thrombocytopenic Purpura: Microangiopathic Hemolytic Anemia, Thrombocytopenia, and Renal Insufficiency Occurring in Consecutive Generations

Thrombotic Thrombocytopenic Purpura: An Extended Editorial

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