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

1984 ◽  
Vol 52 (01) ◽  
pp. 053-056 ◽  
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.

NEONATAL HOMOZYGOUS PROTEIN C DEFICIENCY. PROBLEMS IN DIAGNOSIS AND MANAGEMENT

1987 ◽  
Author(s):  
F Civantos ◽  
J Kent ◽  
C H Pegelow
Keyword(s):  
Protein C ◽  
Purpura Fulminans ◽  
Concomitant Administration ◽  
Skin Lesions ◽  
Fresh Frozen Plasma ◽  
Factor Vii ◽  
Functional Assay ◽  
Protein C Deficiency ◽  
Fresh Frozen ◽  
Frozen Plasma

A newborn with a large rapidly necrotizing hematoma in the right buttock had initial coagulation studies suggestive of disseminated intravascular clotting. Negative cultures, development of other ecchymotic lesions in the scalp, eyelid, and elbows and response to fresh frozen plasma allowed the clinical diagnosis of homozygous protein C deficiency that was confirmed by protein C levels of .00 U/ml immunological and .085 U/ml by coagulation assay. Immunologic.protein C assays in the family showed: .41 U/ml in the mother, .38 U/ml in the father, and .55 U/ml in the paternal grandfather with similar functional assay values. CT scans showed thrombosis of dural venous sinuses with bilateral infarcts and possible subarachnoid hemorrhage resulting in rapidly developing hydrocephalus. Cataracts and synechiae developed in both eyes as a result of hemorrhage at birth. Further episodes of thrombosis and hemorrhage were prevented by administration of fresh frozen plasma every 12 hours. Problems ensued with development of hyper-proteinemia, hypercalcemia and hyperphosphatemia. A shunt to control the hydrocephalus became infected as did the catheter for fresh frozen plasma administration. Coumadin administration concurrent with fresh frozen plasma administration was difficult to regulate; phenobarbital given for subclinical status epilepticus interfered with Coumadin. Factor VII assays were used to regulate the concomitant administration of Coumadin and fresh frozen plasma. At 8 months a new episode of purpura fulminans caused the patient's demise. Skin biopsy of the lesions at birth and autopsy sections of new skin lesions showed thrombosis of subcutaneous adipose tissue veins with surrounding hemorrhage. The pathologic and dermatologic findings were identical to those of Coumadin-induced skin necrosis.

Purpura Fulminans in a Chinese Boy With Congenital Protein C Deficiency

PEDIATRICS ◽  
1986 ◽  
Vol 77 (5) ◽  
pp. 670-676
Author(s):  
Patrick Yuen ◽  
Alfred Cheung ◽  
Hsiang Ju Lin ◽  
Faith Ho ◽  
Jun Mimuro ◽  
...  
Keyword(s):  
Disseminated Intravascular Coagulation ◽  
Protein C ◽  
Purpura Fulminans ◽  
Fresh Frozen Plasma ◽  
Protein C Deficiency ◽  
Intravascular Coagulation ◽  
The Family ◽  
Fresh Frozen ◽  
Frozen Plasma ◽  
Congenital Protein C Deficiency

Severe and recurrent purpura fulminans developed in a Chinese boy at one day of age. Results of coagulation studies performed on the patient during attacks were compatible with the diagnosis of disseminated intravascular coagulation. Subsequent investigations have revealed that the patient is homozygous and that his parents are heterozygous for protein C deficiency. Cryoprecipitate and fresh frozen plasma induced a remission, and administration of warfarin has been successful in preventing recurrence of attacks for as long as 8 months without infusion of any plasma components. None of the family members who are heterozygous for protein C deficiency have had thrombotic episodes.

Homozygous Protein C Deficiency: Observations on the Nature of the Molecular Abnormality and the Effectiveness of Warfarin Therapy

PEDIATRICS ◽  
1988 ◽  
Vol 81 (2) ◽  
pp. 272-276
Author(s):  
Charles Peters ◽  
James F. Casella ◽  
Richard A. Marlar ◽  
Robert R. Montgomery ◽  
William H. Zinkham
Keyword(s):  
Protein C ◽  
Warfarin Therapy ◽  
Purpura Fulminans ◽  
Fresh Frozen Plasma ◽  
Dietary Vitamin ◽  
Medical Attention ◽  
Protein C Deficiency ◽  
Plasma Therapy ◽  
Fresh Frozen ◽  
Frozen Plasma

An infant with severe homozygous protein C deficiency was brought to medical attention because of purpura fulminans and severe bilateral vitreous hemorrhages in the neonatal period. Infusions of fresh frozen plasma were given for 8 months. On two occasions, attempts to decrease the frequency of fresh frozen plasma infusions to less than twice a day led to episodes of microangiopathic hemolysis, fibrinolysis, and acute renal failure. Infarction of skin and subcutaneous tissues did not recur. Both episodes were controlled after reinstitution of fresh frozen plasma. Complications of therapy with fresh frozen plasma included hyperproteinemia and hypertension. Warfarin therapy was instituted when the baby was 8 months of age, followed by a gradual withdrawal of fresh frozen plasma therapy. The dose of warfarin required to maintain the prothrombin time in a range of 1.8 to 2.2 times normal varied considerably during short periods, a phenomenon that may have been due to several factors: hypercatabolism of the drug with prolonged administration, abnormality of liver function, variation in levels of serum albumin, fluctuations in drug dosage secondary to oral administration, and variations in dietary vitamin K. Protein C determinations by immunologic and functional assays consistently showed detectable but reduced protein C antigen levels with undetectable activity levels, suggesting that a dysproteinemia rather than a deficiency of synthesis is responsible for the child's coagulopathy.

Purpura fulminans in congenital protein C deficiency successfully treated with fresh frozen plasma and thrombomodulin

2017 ◽  
Vol 45 (6) ◽  
pp. e165-e166
Author(s):  
Takuma Hayami ◽  
Akihiko Yamaguchi ◽  
Takeshi Kato ◽  
Toshihiro Tanaka ◽  
Yuka Nishizawa ◽  
...  
Keyword(s):  
Protein C ◽  
Purpura Fulminans ◽  
Fresh Frozen Plasma ◽  
Protein C Deficiency ◽  
Fresh Frozen ◽  
Frozen Plasma ◽  
Congenital Protein C Deficiency

scholarly journals A rare case of protein C mutation causing neonatal purpura fulminans

2021 ◽  
Author(s):  
Abdul Tawab ◽  
Madhu George ◽  
Jino Joseph ◽  
Ann Mary Zacharias
Keyword(s):  
Protein C ◽  
Autosomal Recessive ◽  
Purpura Fulminans ◽  
Rare Condition ◽  
Autosomal Recessive Inheritance ◽  
Fresh Frozen Plasma ◽  
Compound Heterozygous ◽  
Protein C Deficiency ◽  
Fresh Frozen ◽  
Proc Gene

Congenital protein C deficiency presenting as purpura fulminans is a rare condition in neonates. It is a disorder with autosomal recessive inheritance and is caused by homozygous or compound heterozygous mutations in PROC gene. The authors report a case of autosomal homozygous PROC gene transversion mutation in a newborn baby born to third degree consanguineous parents who presented as purpura fulminans at birth. She had almost undetectable protein C levels. As protein C concentrate was not readily available, she was managed with low molecular weight heparin along with fresh frozen plasma. Despite our best efforts, baby succumbed to her illness on day 21 of life.  Autosomal recessive protein C deficiency should always be sought as an explanation for thrombotic disorders in the newborn with manifestations of disseminated intravascular coagulation.

CONGENITAL SEVERE PROTEIN C DEFICIENCY IN ADULTS

1987 ◽  
Author(s):  
S Kakkar ◽  
E Melissari ◽  
V V Kakkar
Keyword(s):  
Protein C ◽  
Purpura Fulminans ◽  
Renal Vein Thrombosis ◽  
Fresh Frozen Plasma ◽  
High Titre ◽  
Protein C Deficiency ◽  
Vein Thrombosis ◽  
Fresh Frozen ◽  
The One ◽  
D Dimer

We (Melissari et al, 1985, T.R. 29 [1985] 641) were the first to identify the occurrence of severe protein C deficiency in an adult with thrombophilia and undetectable protein C levels. This report documents our clinical and laboratory resuts of this patient and his family, as well as another 8 patients, in two more, unrelated families. In these unique families with members suffering from severe protein C deficiency (≤6%), no one had experienced neonatal purpura fulminans. Symptoms started mainly in their early twenties, except in 2 patients who first had symptoms at the ages of 11 and 13. The expression of the protein C deficiency was mainly recurrent superficial and deep iliofemoral vein thrombosis and pulmonary embolism. The protein C deficiency was also expressed as generalised peritonitis due to massive messenteric vein thrombosis, cavernus sinus, renal vein thrombosis and priapism. In one of these families, five members died of intra-abdominal thrombosis before the age of 40. A compensated diffuse intra- vascular coagulation syndrome was observed during massive thromboembolic attacks as evidenced by high levels of D-Dimer (≥5000ng/ml). The treatment of choice was heparin or urokinase (with the exception of one patient), followed by heparin and fresh frozen plasma. Long term prophylaxis was LMW heparin or low dose warfarin plus stromba. The one patient who did not respond to the thrombolytic treatment with urokinase was found to have in his plasma a high titre of inhibitor against urokinase and prourokinase. This patient responded to streptokinase treatment. D-Dimer levels in these patients in non-crisis state were raised and proportional to the degree of the protein C deficiency.

Das Smith-Lemli-Opitz-Syndrom

2005 ◽  
Vol 5 (04) ◽  
pp. 178-182
Author(s):  
Wieland Kiess ◽  
Manuela Schulz ◽  
Sabine Liebermann ◽  
Roland Pfäffle ◽  
Peter Bührdel ◽  
...  
Keyword(s):  
Fresh Frozen Plasma ◽  
Therapeutische Möglichkeiten ◽  
Fresh Frozen ◽  
Frozen Plasma

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.

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

1976 ◽  
Vol 36 (01) ◽  
pp. 071-077 ◽  
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.

Sign in / Sign up

Export Citation Format

Share Document