Factor X Deficiency
WHAT YOU SHOULD KNOW
Whether you are newly diagnosed with not alone. There are other people who
Factor X Deficiency (FX Deficiency) have the same condition and lead full
or have been diagnosed for some time, lives. They have had their lives enriched
it is common to go through many ups by becoming closer to other people
and downs. We want to share informa- who are traveling on a similar path.
tion that you should know and some With the care of an experienced team,
resources about this condition that you will find support from your health-
can help you on your path to improved care providers as well as from the
health and quality of life. When you are vibrant and caring bleeding disorders
first given a new diagnosis, one as rare community. You can be involved in this
as FX Deficiency, it is understandable community and build meaningful re-
to have many emotions or feel over- lationships with your new extended
whelmed. The good thing is that you’re family.
You are NOT alone.
“There are other people who have the same
condition and lead full lives. They have had their
lives enriched by becoming closer to other people
who are traveling on a similar path.”
The National Hemophilia Foundation (NHF) is here to provide you with education
and support as you manage your bleeding disorder whether you are a child, a teen,
or an adult. In this spirit, NHF and the bleeding disorders community have selected
some of the most frequently asked questions and answers below to empower you.
hemophilia.org
What Is
Factor X
Deficiency?
FX Deficiency is an ultra-rare bleeding clotting can be caused by abnormalities
disorder. Bleeding disorders are a in blood components such as platelets
group of medical conditions marked and/or blood clotting proteins, also
by an inability or decreased ability to called clotting factors. Platelets are
form a stable blood clot. When the small blood cells that help blood clot.
body is injured and an area bleeds, a Platelets act like first responders and
clot is formed to stop the bleeding. Clot stop bleeding by clumping and forming
formation is a multistep process called plugs in blood vessel injuries. This initial
coagulation. When the blood clots plug is strengthened by the formation
properly, the blood clot is held together of a mesh-like network termed fibrin
firmly at the site of the injury. People with that is generated by a series of clotting
a bleeding disorder are unable to make proteins.
strong clots or none at all. Improper
“Bleeding disorders are a group of medical
conditions that share an inability or decreased
ability to form a stable blood clot.”
If any clotting protein is defective, deficient, or absent, the clot formation will be
inadequate, and bleeding will happen. FX is one of the clotting factors that is an
important part of this process and works by making the clot strong or stable. FX
Deficiency is caused by an abnormal function or decreased amount of the protein.
FX Deficiency affects approximately 1 in 500,000-1,000,000.1 It is also known as
Stuart-Prower Factor Deficiency, named after the first two patients diagnosed with
this condition.1
For All Bleeding Disorders
How does someone get
Factor X Deficiency?
FX Deficiency is an inherited bleeding disorder, meaning that it is passed on from
biological parents to child at the time of conception.
• It affects both males and females equally.
• The affected person has two abnormal copies of a defective gene.
•
• A carrier has only one copy of a defective gene. Typically, carriers do not
have bleeding symptoms.
• For someone to inherit FX Deficiency they must inherit a copy of the
defective gene from both biological parents. That means both parents must
be affected or are carriers of FX Deficiency.
• This pattern of inheritance is called Autosomal Recessive. It is different from
what is called X-linked inheritance, as in the case of some other bleeding
disorders like hemophilia. The different forms of autosomal recessive
inheritance are illustrated on the next page.
hemophilia.org
Family Inheritance of an Autosomal Recessive Disorder
BIOLOGICAL BIOLOGICAL
PARENT PARENT
Affected Unaffected Carrier Unaffected
CHILD CHILD CHILD CHILD
CARRIER CARRIER CARRIER CARRIER UNAFFECTED CARRIER CARRIER UNAFFECTED
2 in 4 chance of being a carrier (50%)
All children will be carriers (100%)
2 in 4 chance of being unaffected (50%)
Carrier Carrier Carrier Affected
AFFECTED CARRIER CARRIER UNAFFECTED AFFECTED CARRIER CARRIER AFFECTED
1 in 4 chance of being affected (25%) 2 in 4 chance of being a carrier (50%)
2 in 4 chance of being a carrier (50%) 2 in 4 chance of being affected (50%)
1 in 4 chance of being unaffected (25%)
KEY
AFFECTED UNAFFECTED CARRIER
If you are AFFECTED with Factor X Deficiency, you probably
inherited one defective gene from each of your biological parents.
SUMMARY If you are a CARRIER of Factor X Deficiency, you inherited only
one copy of a defective gene from a biological parent.
You can use the same logic to figure out the likelihood of your children being impacted
by the deficiency, depending on your and your partner’s genes. Genetic testing and
counseling are available if you are interested in figuring out where the deficiency
came from or who else in the family might be at risk of having the same condition.
Sometimes a person might develop FX Deficiency, rather than being born with it,
as noted in patients with other medical conditions including some types of cancer.2
Such an “acquired deficiency” is still quite rare. It can be caused by an antibody,
which is a protein produced by the body’s immune system. The antibody interferes
with the way FX Deficiency works in the body. Acquired FX Deficiency can also be
caused by an unrelated condition called amyloidosis, in which an abnormal protein
aggregate (amyloid) binds FX and reduces its level in circulation. If you have acquired
FX Deficiency, you may have variable bleeding symptoms that can range from mild
to severe.
For All Bleeding Disorders
What are the symptoms of
Factor X Deficiency?
The symptoms of FX Deficiency corre- bleeding into the stomach or intestines
spond well with how much FX you have (gastrointestinal bleeding). Those with
in your blood. People who do not have levels greater than 10% typically have
FX Deficiency have a level above 60% only minor bleeding without knowing
of the normal amount of FX.3 why, or bleeding caused by trauma or
surgery. Typically, these bleeds include
Those with a FX level less than 10% easy bruising, nose bleeds (epistaxis),
of the normal amount are consid- and gum bleeding. Up to 75 % of women
ered to have a severe deficiency; who are FX deficient have heavy
those with levels between 10%-≈40% menstrual bleeding and can experience
are moderate; and those with levels heavy bleeding after childbirth.2
greater than 40%-60% are considered
to have a mild case of FX Deficiency. If you are a carrier and experience
bleeding symptoms, it is important to
If you have severe FX Deficiency, you seek medical care from a hematologist
may experience symptoms similar to (a doctor specializing in the study of
persons with hemophilia, including joint blood).
bleeds (hemarthrosis), bleeding in the
brain (intracranial hemorrhage), and
Classification of FX Deficiency1,2
SEVERE MODERATE MILD
less than 10% 10%-≈40% greater than 40%-60%
Higher risk of severe bleeding: Low risk of severe bleeding: Mostly don’t show symptoms,
but might have problems with
• Joint bleeds • Bleeding into your • Minor bleeding Typically these
(hemarthrosis) stomach or without knowing why bleeds include:
bleeding during:
• Bleeding in the intestines • Minor bleeding • easy bruising • Trauma
brain (intracranial (Gastrointestinal caused by trauma or • nose bleeds • Surgical procedure
hemorrhage) or GI bleeds) surgery (epistaxis) • Pregnancy / delivery
• gum bleeding
hemophilia.org
FX Activity Level
100%
90%
80%
70%
60%
50%
40%
30%
20%
10%
0%
SEVERE MODERATE MILD NORMAL
less than 10% 10% to ≈40% greater than greater than 60%
40% to 60%
DISEASE SEVERITY
For All Bleeding Disorders
How is Factor X
Deficiency diagnosed?
The diagnosis of FX Deficiency is challenging because it is rare and the common lab
tests to look for this bleeding disorder may show results that are normal.
Persons with the severe form of FX Deficiency are often diagnosed with:
excessive bleeding during infancy, like bleeding following circumcision
in boys
bleeding when the umbilical cord falls off, around 7-14 days after birth
bleeding into the brain (intracranial bleeding)
bleeding into the stomach or intestines (gastrointestinal hemorrhage)4
FX levels are normally low in all infants, even those without FX Deficiency and
therefore the measurement may need to be repeated before a diagnosis of FX
Deficiency is made. Persons with a mild or moderate deficiency may be diagnosed
after some type of challenge, such as a surgery or trauma. The milder forms of the
disorder may be diagnosed during routine screening or based on family history.2
When a bleeding disorder is suspected, your healthcare provider will draw your
blood and send your blood to be tested in a lab. The tests will measure how long it
takes your blood to clot. If the results of these screening tests are suspicious then a
FX Deficiency can be confirmed with a Factor X assay, to measure the level of FX in
the blood. The FX assay is a sensitive test that is best done through a Hemophil-
ia Treatment Center (HTC), a comprehensive clinic that specializes in the care of
individuals with coagulation disorders. There are two types of FX Deficiency. Your
physician can tell you what type you have.4
hemophilia.org
How is Factor X Deficiency treated?
For optimal care, it is recommended that you find a specialized doctor, or he-
matologist, who is experienced in the treatment of FX Deficiency. These doctors
often work at a Hemophilia Treatment Center (HTC).
There is one FDA-approved FX concentrate that comes from human blood. In
addition to the FX concentrate, fresh frozen plasma (FFP), a part of blood, and
other types of factors have been used to treat bleeding in FX deficient patients.1
FX concentrate may not be readily available, and another concentrate with FX
(Profilnine) could be given.
For minor symptoms, topical therapies (applied to the skin) and/or antifibrino-
lytics (such as tranexamic acid pills that help the clot you make last longer) may
be enough to control bleeding without needing to use replacement factor. These
can also be used with the FX concentrate.1 Patients with frequent bleeding, like
repeated joint bleeds or severe nose bleeds, may benefit from “prophylactic”
treatment 1-2 times per week. Heavy menstrual bleeding may often respond to
standard hormonal therapy used for heavy periods in general. Your healthcare
provider (HCP) will work with you to develop an ideal treatment plan based on
your bleeding history.
“There is one
FDA-approved
FX concentrate
that comes from
human blood.”
For the most current list of FDA-approved treatments for all bleeding disorders,
including FX Deficiency, visit:
www.hemophilia.org/healthcare-professionals/guidelines-on-care/products-
licensed-in-the-us.
For All Bleeding Disorders
What special precautions need to be
taken when considering pregnancy?
Women with FX Deficiency can experience successful pregnancy, but most will
have some degree of bleeding. Women with a severe FX Deficiency can ex-
perience several pregnancy-related complications and may require preventive
treatment with Factor X concentrate (prophylaxis) during their pregnancy.5
Meeting with your hematologist is essential prior to getting pregnant. It is
important to work closely with a hematologist who is experienced in the treatment
of FX Deficiency. Often these specialized doctors are found at a HTC. They can
guide your women’s health doctor (OB/GYN) to help develop a treatment plan
during your pregnancy, labor and delivery, and up to 4-6 weeks after delivery (the
postpartum period). HTC hematologists will also be able to provide care to your
baby and provide testing as needed.
“Meeting with your hematologist is essential prior
to getting pregnant.”
hemophilia.org
ADVICE FROM OTHER FX COMMUNITY MEMBERS
“
While we set out with the best intentions for our
children, sometimes we encounter pitfalls we
never could have envisioned. But often the most
challenging journeys become opportunities for
finding our best selves. If we seek out knowledge
and steer with confidence and optimism, we can
enjoy this extraordinary journey alongside those
other rare gems sharing the same path.”
Parent of a child with FX Deficiency
“
Having NHF in your corner turns a FX diagnosis
from the end of the world into, oddly enough, a
unique life opportunity. It is difficult, but you are not
alone; there's a whole community waiting to meet
you with open arms that you would never have
known otherwise.”
FX Patient
“
Don’t let your diagnosis define you, let it
inspire you. Be a champion for yourself and
others within the bleeding community.”
FX Patient
“
Even though you are one in a million you are not
alone. The Factor X community is here for you. It's
great to be a 10. It's an exclusive club.”
FX Patient
Where else can I obtain additional information?
You are now part of a family known as the bleeding disorders community. You
are not alone and you can turn to other members of this community for support
if needed:
• Know how to navigate disclosing your or your child’s bleeding disorder to
daycare, school, work, emergency rooms, and non-hematology specialists.
Learn more about advocating for appropriate treatment in an emergency
room (ER) or with other healthcare providers who may not know much
about FX Deficiency. Always carry your treatment plan letter provided
by your Hemophilia Treatment Center when travelling or going to the
emergency room.
Find out where to connect with others with bleeding disorders locally.
For All Bleeding Disorders
Resources:
The National Hemophilia Foundation
• Factor 10 webpage: https://www.hemophilia.org/bleeding-disorders-a-z/types/other-factor-deficien-
cies/factor-x
• Educational Resources: https://stepsforliving.hemophilia.org/
• HemAware magazine: https://hemaware.org/
• HANDI toll-free hotline: 1-800-42-HANDI
Foundation for Women & Girls with Blood Disorders
• Website directory of specialty women’s clinics: https://www.fwgbd.org/clinics
Hemophilia Federation of America
• The Learning Central: https://www.hemophiliafed.org/the-institute/
Rare Coagulation Disorders
• Factor VII Deficiency: http://www.rarecoagulationdisorders.org/diseases/factor-x-deficiency/dis-
ease-overview
The National Institute of Health
• Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/6404/fac-
tor-x-deficiency
Mayo Clinic
• Autosomal Recessive Inheritance Pattern: https://www.mayoclinic.org/autosomal-recessive-inheri-
tance-pattern/img-20007457
Comprehensive Health Education Services (CHES)
• Website: https://www.ches.education/rare-bleeding-disorders
National Organization for Rare Disorders (NORD)
• Rare Disease Database: https://rarediseases.org/rare-diseases/factor-x-deficiency/
References:
1. Rare Coagulation Disorders Resource Room. http://www.rarecoagulationdisorders.org/diseases/
factor-x-deficiency/medicationstreatment. Accessed December 17, 2020.
2. Brown, D.L. and P.A. Kouides. Diagnosis and treatment of inherited factor X deficiency. Haemophil-
ia. 2008, 1176-1182.
3. Pagana KD, Pagana TJ, Pagana TN. Mosby’s Diagnostic & Laboratory Test Reference. 14th ed.
Elsevier; 2019.
4. National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/fac-
tor-x-deficiency/. Accessed December 17, 2020.
5. Nance, D. et al. Factor X deficiency and pregnancy: preconception counselling and therapeutic
options. Haemophilia. 2012, e277-e285
Acknowledgements:
The National Hemophilia Foundation (NHF) is dedicated to finding cures for inheritable blood disorders and to address-
ing and preventing the complications of these disorders through research, education, and advocacy enabling people
and families to thrive. The NHF would like to express its appreciation to Sonia Nasr/Gloval LLC and Nikole Scappe for the
content development, the rare working group members, Carlisa Magee, Natalia Winberry, MNLM, Lena Volland, PT, DPT,
and Kate Nammacher, MPH, for their insights and review. A special thank you to Peter Kouides, MD, Leonard Valentino,
MD, and all the individuals who reviewed drafts of this publication. This publication was developed through the support
of NHF’s 2021 Community Education Program sponsors: BioMarin, Genentech, Hemophilia Alliance, Sangamo, Sanofi
Genzyme, and Takeda.
This booklet is intended for informational purposes only. It is not intended to be used to make healthcare coverage or
treatment determinations. NHF’s Medical and Scientific Advisory Council (MASAC) recommends that the product and cor-
responding treatment regimen used by an individual should remain a decision between patient and physician.
© 2021 National Hemophilia Foundation. Material in this publication may not be reproduced without express permission
from the National Hemophilia Foundation.
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