Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment

ZusammenfassungDas Smith-Lemli-Opitz-Syndrom wird durch einen Defekt des letzten Schrittes der Cholesterolbiosynthese, den Mangel an 7-Dehydrocholesterolreduktase, verursacht. Die Akkumulation der Metaboliten 7-Dehydrocholesterol und 8-Dehydrocholesterol, die die wichtigsten biochemischen Marker für die Diagnose der Erkrankung darstellen, sowie der Mangel an Cholesterol können zu multiplen kongenitalen Anomalien führen. Die Ursache des Enzymmangels sind Mutationen innerhalb des DHCR7-Gens, welches auf Chromosom 11q13 lokalisiert ist. Therapeutische Möglichkeiten bestehen in der Gabe von Cholesterol und im Notfall Fresh Frozen Plasma (FFP); der therapeutische Nutzen von Statinen befindet sich zurzeit in der klinischen Erprobung.

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The Recovery of Factor VIII from Fresh-Frozen, Indated and Outdated Human Plasma

Thrombosis and Haemostasis ◽

10.1055/s-0038-1648010 ◽

1976 ◽

Vol 36 (01) ◽

pp. 071-077 ◽

Cited By ~ 2

Author(s):

Daniel E. Whitman ◽

Mary Ellen Switzer ◽

Patrick A. McKee

Keyword(s):

Factor Viii ◽

Polyacrylamide Gel Electrophoresis ◽

Sodium Dodecyl ◽

The United States ◽

Fresh Frozen Plasma ◽

Red Cross ◽

Random Samples ◽

Fresh Frozen ◽

Factor Viii Concentrates ◽

Frozen Plasma

SummaryThe availability of factor VIII concentrates is frequently a limitation in the management of classical hemophilia. Such concentrates are prepared from fresh or fresh-frozen plasma. A significant volume of plasma in the United States becomes “indated”, i. e., in contact with red blood cells for 24 hours at 4°, and is therefore not used to prepare factor VIII concentrates. To evaluate this possible resource, partially purified factor VIII was prepared from random samples of fresh-frozen, indated and outdated plasma. The yield of factor VIII protein and procoagulant activity from indated plasma was about the same as that from fresh-frozen plasma. The yield from outdated plasma was substantially less. After further purification, factor VIII from the three sources gave a single subunit band when reduced and analyzed by sodium dodecyl sulfate polyacrylamide gel electrophoresis. These results indicate that the approximately 287,000 liters of indated plasma processed annually by the American National Red Cross (ANRC) could be used to prepare factor VIII concentrates of good quality. This resource alone could quadruple the supply of factor VIII available for therapy.

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Haemophilia in a Female

Thrombosis and Haemostasis ◽

10.1055/s-0038-1653669 ◽

1971 ◽

Vol 26 (02) ◽

pp. 205-210

Author(s):

J. A McBride ◽

J Hunter ◽

Elizabeth Pearse ◽

Yvette Sultan ◽

J. P Caen

Keyword(s):

Fresh Frozen Plasma ◽

Plasma Fibrinogen ◽

Fresh Frozen ◽

Frozen Plasma

SummaryA case of haemophilia in a female is described together with the response of the patient’s level of antihaemophilic factor in the plasma following transfusion of fresh frozen plasma, fibrinogen and cryoprecipitate.

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Severe Inherited “Homozygous” Protein C Deficiency in a Newborn Infant

Thrombosis and Haemostasis ◽

10.1055/s-0038-1661136 ◽

1984 ◽

Vol 52 (01) ◽

pp. 053-056 ◽

Cited By ~ 77

Author(s):

A Estellés ◽

I Garcia-Plaza ◽

A Dasí ◽

J Aznar ◽

M Duart ◽

...

Keyword(s):

Newborn Infant ◽

Protein C ◽

Skin Lesions ◽

Fresh Frozen Plasma ◽

Clinical Syndrome ◽

Assay Method ◽

Enzyme Linked Immunosorbent Assay ◽

Protein C Deficiency ◽

Fresh Frozen ◽

Frozen Plasma

SummaryA relapsing clinical syndrome of skin lesions and disseminated intravascular coagulation (DIC) that showed remission with the infusion of fresh frozen plasma is described in a newborn infant with homozygous deficiency of protein C antigen.This patient presented since birth a recurrent clinical picture of DIC and ecchymotic skin lesions that resembled typical ecchymosis except for the fact that they showed immediate improvement with the administration of fresh frozen plasma. Using an enzyme linked immunosorbent assay method, the determination of protein C antigen levels in the patient, without ingestion of coumarin drugs, showed very low values (<1%).No other deficiencies in the vitamin-K-dependent factors or in anti thrombin III, antiplasmin, and plasminogen were found. Seven relatives of the infant had heterozygous deficiency in protein C antigen (values between 40-55%), without clinical history of venous thrombosis. The pedigree analysis of this family suggests an autosomal recessive pattern of inheritance for the clinical phenotype, although an autosomal dominant pattern has been postulated until now in other reported families.We conclude that our patient has a homozygous deficiency in protein C and this homozygous state may be compatible with survival beyond the neonatal period.

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