Riassunto
Premesse.
Nel corso di uno screening preoperatorio viene individuato un paziente con notevole allungamento del tempo di tromboplastina parziale attivato (aPTT), normale tempo di protrombina (PT) e anamnesi negativa per precedenti episodi di sanguinamento.
Metodi.
Vengono eseguiti l’aPTT sulla miscela 1:1 (plasma paziente:pool) e successivamente il dosaggio dei fattori di pertinenza della via intrinseca.
Risultati.
La normalizzazione dell’aPTT nella miscela 1:1 (plasma paziente:pool) orienta per deficit di uno o più fattori della “via intrinseca”, tuttavia la valutazione dei fattori XII, XI, IX e VIII non evidenzia carenze. Viene pertanto ipotizzato un deficit di uno degli altri fattori della fase di contatto (pre-callicreina, chininogeno ad alto peso molecolare). La mancata normalizzazione dell’aPTT nella miscela 1:100 (pool:plasma paziente) consente di escludere la carenza di pre-callicreina (PK), rendendo più consistente l’ipotesi di un deficit di chininogeno ad alto peso molecolare (HMWK). In assenza del saggio immunologico, viene eseguito l’aPTT sulla miscela costituita dal plasma del paziente e dal 12,5% di plasma normale. La correzione dell’aPTT consente di confermare il sospetto di deficit di HMWK. Il paziente viene pertanto regolarmente sottoposto a intervento chirurgico senza complicanze emorragiche.
Conclusioni.
Anche in assenza di test specialistici e costosi è possibile giungere a diagnosi di patologie piuttosto rare, utilizzando metodologie diagnostiche economiche e disponibili in tutti i Laboratori, quali l’attenta analisi dell’anamnesi in combinazione con la valutazione dei risultati dell’aPTT e del test di miscela.
Summary
Background.
A patient with significant prolongation of activated partial thromboplastin time (aPTT), normal prothrombin time (PT) and with negative clinical history for previous bleeding was identified during a preoperative screening.
Methods.
An aPTT was carried out on the mixture 1:1 (plasma patient:pool) and, at a later stage, a dosage of the factors relevant to the intrinsic way was also obtained.
Results.
The normalization of aPTT in mixture 1:1 (plasma patient:pool), points out to a deficit of one or more “intrinsic way” factors; nevertheless, the evaluation of factors XII, XI, IX and VIII, does not highlight any shortages; therefore, it is possible that there might be a deficiency in one of the other factors in the contact phase (pre-kallikrein, high molecular weight kininogen). Missing normalization in aPTT mixture 1:100 (pool:plasma patient), allows us to exclude a pre-kallikrein shortage (PK), so as to consolidate the hypothesis of a high molecular weight kininogen shortage (HMWK). If there is no immunological sample, the aPTT is carried out on the mixture made of patient plasma and 12.5% normal plasma. The correction in the aPTT allows us to confirm our suspicion of an HMWK deficit, therefore, the patient can undergo surgery without incurring in complications due to possible hemorrhages.
Conclusions.
Even without carrying out expensive and specialized tests, it is possible to diagnose rare diseases using inexpensive diagnostic methods which are available in all laboratories, such as a careful anamnesis analysis together with an evaluation of aPTT results and mixture tests.
![](http://media.springernature.com/m312/springer-static/image/art%3A10.1007%2Fs13631-013-0019-x/MediaObjects/13631_2013_19_Fig1_HTML.gif)
![](http://media.springernature.com/m312/springer-static/image/art%3A10.1007%2Fs13631-013-0019-x/MediaObjects/13631_2013_19_Fig2_HTML.gif)
![](http://media.springernature.com/m312/springer-static/image/art%3A10.1007%2Fs13631-013-0019-x/MediaObjects/13631_2013_19_Fig3_HTML.gif)
Bibliografia
Osteba AJ, Lopez-Argumedo M (2000) Preoperative evaluation in elective surgery. Int J Thechnol 16:673–683
Malacrida A, Chantarangkul V, Tripodi A (2004) Carenza di pre-callicreina e tempo di tromboplastina parziale attivato (APTT). Riv Med Lab. J Light Metals 5:40–42
Rapaport SI (1983) Preoperative hemostatic evaluation: which tests, if any? Blood 61:229–231
Leung LL (2006) Perioperative evaluation of bleeding diathesis. Hematology 1:457–461
Kitchens CS (2005) To bleed or not to bleed? Is that the question for the PTT? J Thromb Haemost 3:2607–2611
Asmis LM, Sulzer I, Furlan M et al. (2002) Prekallikrein deficiency: the characteristic normalization of the severely prolonged aPTT following increased preincubation time is due to autoactivation of factor XII. Thromb Res 105:463–470
Bick RL (2002) Disorders of thrombosis and hemostasis: clinical and laboratory practice. Lippincott Williams and Wilkins, Philadelphia, PA, USA
Wuepper KD, Miller DR, Lacombe MJ (1975) Deficiency of human plasma kininogen. J Clin Invest 56:1663–1672
Chen A, Teruya J (2009) Global hemostasis testing tromboelastography: old technology, new applications. Clin Lab Med 29:391–407
Schmaier AH (1997) Contact activation: a revision. Thromb Haemost 78:101–107
Conflitto di interesse
Nessuno.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Pancione, Y., Fumi, M., Sale, S. et al. Carenza di chininogeno ad alto peso molecolare e test globali dell’emostasi: descrizione di un caso clinico. Riv Ital Med Lab 9, 166–169 (2013). https://doi.org/10.1007/s13631-013-0019-x
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13631-013-0019-x