Abstract
We describe a case of primary amyloidosis (AL) with severe factor X (FX) deficiency in an amateur cyclist presenting with muscular pain at rest and ecchymoses in his legs. No circulating inhibitor of FX was found by mixing studies and there was no deficiency of other vitamin K-dependent coagulation factors and inhibitors or of α2-antiplasmin. Thrombin-time and reptilase time were abnormally prolonged and were not corrected by mixing with normal plasma. Administration of plasma or prothrombin complex concentrate (PCC) were unsuccessful in controlling bleeding: the apparent half-life of transfused FX was 6 minutes. Resting resulted in cessation of muscular pain and bleeding. Renal and cardiac deterioration led the patient to death 3 years after presentation. No further bleeding manifestations did occur during this period. FX levels remained consistently below 3%, but prothrombin fragment 1.2 and thrombin-antithrombin complex - measured at distance from PCC administration and prior to deterioration of renal and cardiac function - were markedly elevated. At autopsy, disseminated amyloidosis was found with sparing of the skeletal muscles and of the skin. This is the first report of increased in vivo prothrombin activation and activity in AL-associated FX deficiency.
| Original language | English |
|---|---|
| Pages (from-to) | 333-337 |
| Number of pages | 5 |
| Journal | Thrombosis Research |
| Volume | 80 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Nov 15 1995 |
Fingerprint
Keywords
- AL amyloidosis
- factor X deficiency prothrombin fragment 1.2
- thrombinantithrombin complex
ASJC Scopus subject areas
- Hematology
- Cardiology and Cardiovascular Medicine
Cite this
Unusual bleeding manifestations in a case of primary amyloidosis with factor X deficiency but elevations of in vivo markers of thrombin formation and activity. / Marcatti, Magda; Mauri, Simona; Tresoldi, Moreno; Sabbadini, Maria G.; Vigano'D'Angelo, Silvana; Safa, Omid; Rugarli, Claudio; D'Angelo, Armando.
In: Thrombosis Research, Vol. 80, No. 4, 15.11.1995, p. 333-337.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Unusual bleeding manifestations in a case of primary amyloidosis with factor X deficiency but elevations of in vivo markers of thrombin formation and activity
AU - Marcatti, Magda
AU - Mauri, Simona
AU - Tresoldi, Moreno
AU - Sabbadini, Maria G.
AU - Vigano'D'Angelo, Silvana
AU - Safa, Omid
AU - Rugarli, Claudio
AU - D'Angelo, Armando
PY - 1995/11/15
Y1 - 1995/11/15
N2 - We describe a case of primary amyloidosis (AL) with severe factor X (FX) deficiency in an amateur cyclist presenting with muscular pain at rest and ecchymoses in his legs. No circulating inhibitor of FX was found by mixing studies and there was no deficiency of other vitamin K-dependent coagulation factors and inhibitors or of α2-antiplasmin. Thrombin-time and reptilase time were abnormally prolonged and were not corrected by mixing with normal plasma. Administration of plasma or prothrombin complex concentrate (PCC) were unsuccessful in controlling bleeding: the apparent half-life of transfused FX was 6 minutes. Resting resulted in cessation of muscular pain and bleeding. Renal and cardiac deterioration led the patient to death 3 years after presentation. No further bleeding manifestations did occur during this period. FX levels remained consistently below 3%, but prothrombin fragment 1.2 and thrombin-antithrombin complex - measured at distance from PCC administration and prior to deterioration of renal and cardiac function - were markedly elevated. At autopsy, disseminated amyloidosis was found with sparing of the skeletal muscles and of the skin. This is the first report of increased in vivo prothrombin activation and activity in AL-associated FX deficiency.
AB - We describe a case of primary amyloidosis (AL) with severe factor X (FX) deficiency in an amateur cyclist presenting with muscular pain at rest and ecchymoses in his legs. No circulating inhibitor of FX was found by mixing studies and there was no deficiency of other vitamin K-dependent coagulation factors and inhibitors or of α2-antiplasmin. Thrombin-time and reptilase time were abnormally prolonged and were not corrected by mixing with normal plasma. Administration of plasma or prothrombin complex concentrate (PCC) were unsuccessful in controlling bleeding: the apparent half-life of transfused FX was 6 minutes. Resting resulted in cessation of muscular pain and bleeding. Renal and cardiac deterioration led the patient to death 3 years after presentation. No further bleeding manifestations did occur during this period. FX levels remained consistently below 3%, but prothrombin fragment 1.2 and thrombin-antithrombin complex - measured at distance from PCC administration and prior to deterioration of renal and cardiac function - were markedly elevated. At autopsy, disseminated amyloidosis was found with sparing of the skeletal muscles and of the skin. This is the first report of increased in vivo prothrombin activation and activity in AL-associated FX deficiency.
KW - AL amyloidosis
KW - factor X deficiency prothrombin fragment 1.2
KW - thrombinantithrombin complex
UR - http://www.scopus.com/inward/record.url?scp=0028799280&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028799280&partnerID=8YFLogxK
U2 - 10.1016/0049-3848(95)00184-S
DO - 10.1016/0049-3848(95)00184-S
M3 - Article
C2 - 8585046
AN - SCOPUS:0028799280
VL - 80
SP - 333
EP - 337
JO - Thrombosis Research
JF - Thrombosis Research
SN - 0049-3848
IS - 4
ER -