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$Unique_ID{BRK04349}
$Pretitle{}
$Title{Afibrinogenemia, Congenital}
$Subject{Afibrinogenemia Congenital Congenital Afibrinogenemia Factor IX
Deficiency Factor XIII Deficiency Hageman Factor Deficiency Hemophilia Von
Willebrand Disease }
$Volume{}
$Log{}
Copyright (C) 1993 National Organization for Rare Disorders, Inc.
940:
Afibrinogenemia, Congenital
** IMPORTANT **
It is possible that the main title of the article (Congenital
Afibrinogenemia) is not the name you expected. Please check the SYNONYMS
listing to find the alternate name and disorder subdivisions covered by this
article.
Synonyms
Congenital Afibrinogenemia
Information on the following diseases can be found in the Related
Disorders section of this report:
Factor IX Deficiency
Factor XIII Deficiency
Hageman Factor Deficiency
Hemophilia
Von Willebrand Disease
General Discussion
**REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Congenital Afibrinogenemia is a rare disorder in which the patient is
born with little or no fibrinogen. Fibrinogen is a protein necessary in the
blood clotting process. As a result, the blood does not coagulate causing
the patient to bleed uncontrollably. Many patients may experience severe
hemorrhaging during childhood while others may have very little trouble with
bleeding. Congenital Afibrinogenemia is thought to be inherited as an
autosomal recessive genetic trait.
Symptoms
Congenital Afibrinogenemia is a very rare blood disorder in which the patient
is born with little or no fibrinogen in the circulating blood. Fibrinogen is
a protein that is needed to form blood clots. When this protein is absent,
the blood does not coagulate which can cause the patient to hemorrhage.
Two thirds of the patients with Congenital Afibrinogenemia have bleeding
problems from infancy on. The severity and frequency of bleeding from
surgery or trauma can vary from mild to severe.
Infants may have severe hemorrhaging during the first few days of life.
Typically the hemorrhaging can be noticed from the umbilical cord, in the
stools, when vomiting, after circumcision, from the use of forceps during
delivery and/or in collections of blood that become trapped in the skin
tissue (hematomas).
Other symptoms of Congenital Afibrinogenemia may be severe bleeding after
minor trauma, the loss of baby teeth, or during the extraction of teeth.
Patients may also bruise easily and hemorrhage from the gums.
Some patients with Congenital Afibrinogenemia also experience
hemorrhaging into a joint (hemarthrosis); nosebleeds; gastrointestinal
bleeding; heavy bleeding during menstruation; bleeding in the chest cavity
and/or a ruptured spleen.
Causes
Congenital Afibrinogenemia is thought to be inherited as an autosomal
recessive trait. Human traits, including the classic genetic diseases, are
the product of the interaction of two genes, one received from the father and
one from the mother. In recessive disorders, the condition does not appear
unless a person inherits the same defective gene for the same trait from each
parent. If one receives one normal gene and one gene for the disease, the
person will be a carrier for the disease, but usually will not show symptoms.
The risk of transmitting the disease to the children of a couple, both of
whom are carriers for a recessive disorder, is twenty-five percent. Fifty
percent of their children will be carriers, but healthy as described above.
Twenty-five percent of their children will receive both normal genes, one
from each parent, and will be genetically normal.
Affected Population
Congenital Afibrinogenemia is a rare disorder that affects males and females
in equal numbers. Approximately one hundred and thirty cases have been
recorded in the medical literature.
Related Disorders
Symptoms of the following blood clotting disorders can be similar to those of
Congenital Afibrinogenemia. Comparisons may be useful for a differential
diagnosis:
Factor IX Deficiency is a severe genetic bleeding disorder that resembles
classic Hemophilia A. Factor IX is a component of the blood clotting
substance thromboplastin. It is deficient at birth in patients with this
disorder. Factor IX Deficiency varies in severity between families and
occurs most often among males. In rare instances, female carriers have been
known to exhibit this deficiency in a mild form. Symptoms include prolonged
bleeding episodes, and in very severe cases, joint pain and bone deformities.
(For more information on this disorder, choose "Factor IX Deficiency" as your
search term in the Rare Disease Database).
Factor XIII Deficiency is a very rare inherited disorder that prevents
the blood from clotting normally. The lack of clotting factor XIII can cause
slow, oozing internal bleeding which may begin several days after even a mild
trauma, such as a bump or bruise. The bleeding may persist so that large
cysts form in the tissue spaces, destroying the surrounding bone and causing
peripheral nerve damage. This typically occurs in the thigh and buttocks
area. (For more information on this disorder, choose "Factor XIII
Deficiency" as your search term in the Rare Disease Database).
Hageman Factor Deficiency is a rare genetic blood disorder. It is caused
by a lack in activity of the Hageman factor in blood plasma, a single-chain
glycoprotein which is also called Factor XII. This factor is needed for
blood clotting. However, when it is deficient, other blood clotting factors
tend to compensate for Factor XII. This disorder usually presents no symptoms
and is only accidentally discovered through pre-operative blood tests that
are required by hospitals. (For more information on this disorder, choose
"Hageman Factor Deficiency" as your search term in the Rare Disease
Database).
Hemophilia is a hereditary blood clotting disorder which affects males
almost exclusively. Hemophilia is caused by the inactivity of one of the
blood proteins necessary (usually Factor VIII) for clotting and can be
classified by its level of severity; mild, moderate, and severe. Severity is
determined by the percentage of active clotting factor in the blood. (For
more information on this disorder, choose "Hemophilia" as your search term in
the Rare Disease Database).
Von Willebrand Disease is a hereditary blood clotting disorder
characterized by prolonged bleeding. Blood clotting is slow due to a
deficiency of the Von Willebrand factor protein and factor VIII protein (the
factor VIII complex). Also, platelets do not stick normally causing
excessively slow clotting time. Increased risk of excessive bleeding
following surgery, dental procedures or injury occurs in patients with this
disorder. With proper treatment and appropriate precautions, few patients
become seriously handicapped by Von Willebrand Disease. The tendency to
prolonged bleeding usually decreases with age. (For more information on this
disorder choose "Von Willebrand" as your search term in the Rare Disease
Database)
Therapies: Standard
Patients with Congenital Afibrinogenemia may be treated with infusions of
cryoprecipitate concentrates. This is prescribed to raise the fibrogen level
in the blood permitting clots to form.
Fibrogen concentrates may be given but there is a risk of contracting an
infectious disorder. Cryoprecipitate is the preferred treatment.
Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.
Therapies: Investigational
Research on birth defects and their causes is ongoing. The National
Institutes of Health (NIH) is sponsoring the Human Genome Project which is
aimed at mapping every gene in the human body and learning why they sometimes
malfunction. It is hoped that this new knowledge will lead to prevention and
treatment of genetic disorders in the future.
This disease entry is based upon medical information available through
May 1993. Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.
Resources
For more information on Congenital Afibrinogenemia:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Hemophilia Foundation
110 Greene St., Suite 303
New York, NY 10012
(212) 563-0211
NIH/National Heart Lung & Blood Institute (NHLBI)
9000 Rockville Pike
Bethesda MD 20892
(301) 496-4236
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10505
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns
Hopkins University Press, 1992. Pp. 1199-1200.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 1073.
HEMATOLOGY, 4TH Ed,: William J. Williams, et al,: Editors; McGraw-Hill,
Inc. Pp. 1474-5.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 62-3.
PROPHYLACTIC CRYOPRECIPITATE IN CONGENITAL AFIBRINOGENEMIA: R.C.
Rodriguez, et al.; Clin Pediatr (November, 1988, issue 27(11)). Pp. 543-5.