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$Title{Factor XIII Deficiency}
$Subject{Factor XIII Deficiency Fibrin Stabilizing Factor Deficiency
Laki-Lorand Factor Deficiency Fibrinase Deficiency Fibrinoligase Deficiency
Plasma Transglutaminase Deficiency Congenital Factor XIII Deficiency Acquired
Factor XIII Deficiency Von Willebrand Disease Factor IX Deficiency Hemophilia
Schoenlein-Henoch Purpura}
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Copyright (C) 1989, 1991, 1993 National Organization for Rare Disorders,
Inc.

66:
Factor XIII Deficiency

** IMPORTANT **
It is possible that the main title of the article (Factor XIII
Deficiency) is not the name you expected.  Please check the SYNONYMS listing
to find the alternate name and disorder subdivisions covered by this article.

Synonyms

     Fibrin Stabilizing Factor Deficiency
     Laki-Lorand Factor Deficiency
     Fibrinase Deficiency
     Fibrinoligase Deficiency
     Plasma Transglutaminase Deficiency

Disorder Subdivisions:

     Congenital Factor XIII Deficiency
     Acquired Factor XIII Deficiency

Information on the following diseases can be found in the Related
Disorders section of this report:

     Von Willebrand Disease
     Factor IX Deficiency
     Hemophilia
     Schoenlein-Henoch Purpura

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.


Factor XIII Deficiency is an extremely rare inherited disorder
characterized by abnormal blood clotting that can result in internal
bleeding.  There are two forms of the disease:  Acquired Factor XIII
Deficiency and Congenital Factor XIII Deficiency.

Symptoms

Factor XIII Deficiency causes internal bleeding.  The blood may seep into
surrounding soft tissues several days after trauma, even mild trauma such as
a bump or bruise.  Pain and swelling may occur at the injury site prior to
bleeding.  If the bleeding continues, large cysts may form in the surrounding
tissue that may destroy bone and cause peripheral nerve damage, usually in
the thigh and buttocks areas.

At birth, an infant with Factor XIII Deficiency may bleed from the
umbilical cord.  This rarely occurs in other blood clotting disorders.

The most serious hemorrhaging that can occur in Factor XIII Deficiency is
in the central nervous system following mild head trauma.  In some cases
hemorrhaging may stop spontaneously without treatment.

Women with Factor XIII Deficiency who become pregnant usually have
miscarriages if they do not receive treatment.  Men with this disorder may be
sterile or have extremely low sperm counts.  Replacing Factor XIII in these
men does not correct sterility.

Some of the less frequently seen symptoms of this disorder are poor wound
healing, excessive bleeding from wounds, blood blisters attached to the
abdominal wall (retroperitoneal hematomas), and/or blood in the urine
(hematuria).

Some symptoms are seldom or never seen in people with Factor XIII
Deficiency and this may help distinguish it from other bleeding disorders.
These may include excessive blood loss during menstruation, hemorrhages
within the eye, gastrointestinal bleeding, arthritis caused by an
accumulation of blood in the joints, postoperative hemorrhage, bleeding from
mucous membranes, and/or tiny red spots on the skin (petechiae).

Factor XIII Deficiency is not generally a threat to patients who need
surgery.  The small amount of Factor XIII present in blood transfusions
generally prevents postoperative hemorrhaging.  Excessive bleeding from
wounds, abrasions, or even spontaneous abortions is not common unless a
person with this disorder uses aspirin or similar medications.

Causes

Factor XIII Deficiency is a rare disorder that may be acquired in conjunction
with other disorders such as Sickle Cell Disease and Schoenlein-Henoch
Purpura.  It may sometimes occur as a result of cirrhosis or cancer of the
liver.  In these cases, the levels of Factor XIII may return to normal when
the underlying liver disease is treated.  People who have been treated with
the drug isoiazid or have chronic kidney failure may develop anticoagulation
antibodies that impair the clotting function of Factor XIII.  (For more
information on these disorders, choose "Sickle Cell" and "Schoenlein-Henoch
Purpura" as your search term in the Rare Disease Database.)

In congenital Factor XIII Deficiency the disorder is inherited as an
autosomal dominant genetic 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 dominant disorders a
single copy of the disease gene (received from either the mother or father)
will be expressed "dominating" the other normal gene and resulting in the
appearance of the disease.  The risk of transmitting the disorder from
affected parent to offspring is fifty percent for each pregnancy regardless
of the sex of the resulting child.

In the past Factor XIII Deficiency was believed to be inherited as an
autosomal recessive genetic trait, which means both parents have to carry the
gene in order for a child to inherit two genes that cause the disease.  It is
possible that there is both a dominant and recessive form of this disease.
In the recessive form people who inherit only one gene for autosomal
recessive Factor XIII Deficiency have reduced levels of Factor XIII in their
blood but usually have no symptoms.

Affected Population

Factor XIII Deficiency is a rare disorder that affects males and females in
equal numbers.  The disorder has been identified in pregnant women who are
about to deliver, in newborns, and in people who have undergone major
surgery.  Factor XIII Deficiency may also occur in people with Sickle Cell
Disease and in many children with Schoenlein-Henoch Purpura.

Related Disorders

Symptoms of the following disorders can be similar to those of Factor XIII
Deficiency.  Comparisons may be useful for a differential diagnosis:

Von Willebrand Disease is a rare inherited blood disorder of infancy or
childhood characterized by prolonged bleeding and abnormally slow blood
clotting time.  Symptoms develop due to a deficiency of factor VII and von
Willebrand factor, along with a structural defect of platelets in the blood.
Symptoms may include heavy nose bleeds and excessive bleeding after injury,
menstruation, childbirth, surgery, and/or some dental procedures.  (For more
information on this disorder, choose "von Willebrand Disease" as your search
term in the Rare Disease Database.)

Factor IX Deficiency is a rare inherited blood disorder characterized by
severe and prolonged profuse bleeding (hemorrhaging) and in extreme cases,
joint pain and bone deformities.  Symptoms develop due to a deficiency of
Factor IX.  This blood factor is a component of thromboplastin which enables
the blood to clot.  In mild cases of Factor IX Deficiency, patients
hemorrhage only after surgery or tooth extractions.  In more severe cases,
hemorrhage can occur in any part of the body, including the central nervous
system and the digestive tract.  In extreme cases, internal hemorrhaging
occurs in the muscles, joints, and/or bones, resulting in deformity.  (For
more information on this disorder, choose "Factor IX Deficiency" as your
search term in the Rare Disease Database.)

Hemophilia is a rare inherited blood clotting disorder caused by inactive
or deficient blood proteins (usually Factor VIII).  This disorder is found in
males almost exclusively and may be mild, moderate, or severe.  The most
serious symptom of Hemophilia is uncontrolled internal bleeding that can
begin spontaneously without any apparent cause.  Internal bleeding may cause
permanent damage to joints and muscles.  Bruises and trauma can trigger
episodes of serious internal bleeding.  (For more information on this
disorder, choose "Hemophilia" as your search term in the Rare Disease
Database.)

Schoenlein-Henoch Purpura is a rare inherited disorder of the capillaries
characterized by reddish skin lesions and internal hemorrhaging.  This
disorder can affect the joints, gastrointestinal tract, kidneys, and in some
rare cases, the central nervous system.  Initial symptoms include red skin,
swelling, and hives.  Patients may also experience fever and a general
feeling of weakness (malaise).  Severe localized pain may occur if blood and
plasma accumulate in the joints or abdomen.  (For more information on this
disorder, choose "Purpura, Schoenlein-Henoch" as your search term in the Rare
Disease Database.)

Therapies:  Standard

The amount of Factor XIII necessary for a normal response to trauma is only
about 10 percent of that in the normal plasma.  People with Factor XIII
Deficiency are generally given small infusions of fresh or frozen blood
plasma (cryoprecipitates), or Factor XIII concentrates every three or four
weeks.  This has proven to be a highly successful preventive treatment for
the disorder.  Patients typically have a normal response to trauma while on
these transfusions.  When patients with Factor XIII Deficiency have a high
incidence of bleeding inside the head (intracranial), preventive treatment is
necessary.

Pregnant women can be given exogenous Factor XIII to help prevent
spontaneous abortion.  Genetic counseling may be of benefit for patients and
their families.  Other treatment is symptomatic and supportive.

Therapies:  Investigational

Isolated Factor XIII preparations are under development as a potential
treatment for Factor XIII Deficiency.  The orphan drug fibrogammin is being
tested as a possible treatment for this disorder (including Congenital Factor
XIII Deficiency).  For more information on this treatment, contact:  Hoechst
Roussel Pharmaceuticals, Inc., Route 202, 206 North, Somerville, NJ, 08876.

Research on birth defects and their causes is ongoing.  The National
Institutes of Health (NIH) is sponsoring the Human Genome Project that 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.

The orphan product Factor XIII, Recombinant, is being investigated for
the treatment of Congenital Factor XIII Deficiency.  The product is sponsored
by:

     Zymogenetics, Inc.
     4225 Roosevelt Way
     Seattle, WA  98105

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 Factor XIII Deficiency, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     National Hemophilia Foundation
     The Soho Building
     110 Greene St., #406
     New York, NY  10012
     [phone]

     NIH/National Heart, Lung and Blood Institute (NHLBI)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     World Federation of Hemophilia
     1155 Dorchester Blvd. West, Suite 1517
     Montreal, Quebec, H3B 2L3 Canada
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     800-336-GENE
     301-652-5553

References

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief; Little Brown and Co.,
1987.  Pp. 1017.

MENDELIAN INHERITANCE IN MAN, 10th Ed.:  Victor A. McKusick, Editor:
Johns Hopkins University Press, 1992.  Pp. 379-381.

CECIL TEXTBOOK OF MEDICINE, 19th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990.  Pp. 1010-1011.

HEMATOLOGY, 4th Ed,:  William J. Williams, et al,; Editors; McGraw-Hill,
Inc., 1990.  Pp. 1491-1492.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 680-81.

NEONATAL FACTOR XIII DEFICIENCY:  J. Landman et al.; Clin Pediatr (1985
Jun; 24(6)).  Pp. 352-353.

INHERITED FACTOR XIII DEFICIENCY:  D. Waks et al.; Fondu P; Acta Clin Belg
(1989;44(1)).  Pp. 52-57.