This pamphlet is a layman’s terms summary of Antiphospholipid
Syndrome (APS). It covers such topics as diagnosis, symptoms, treatment, and
coping. It is meant for patients newly diagnosed, however would also be good
for informing friends and family about your disease.
Antiphospholipid Antibody Syndrome or APS is an autoimmune
disorder in which the body recognizes certain normal components of blood and/or
cell membranes as foreign substances and produces antibodies against them.
Patients with these antibodies may experience blood clots, including heart
attacks and strokes, and miscarriages. APS may occur in people with systemic
lupus erythematosus, other autoimmune diseases, or in otherwise healthy
individuals.
APS is also known as APLS,
APLA, Hughes Syndrome or "Sticky Blood."
One way in which our immune system fights infections is by making
antibodies. Antibodies are proteins in the blood and body fluids that bind to
foreign invaders like bacteria and viruses and help the immune system destroy
and remove them. Sometimes the immune system doesn’t function properly and
makes antibodies against normal organs and tissues in the body. These
self-reactive antibodies are called autoantibodies. The autoantibodies in APS
were originally thought to recognize that recognize certain phospholipids, fatty
molecules that make up part of normal cell membranes, hence the name
“antiphospholipid” antibodies. It is now known that most of the autoantibodies
in APS patients actually recognize certain blood proteins that bind to
phospholipids, not the phospholipids themselves. Two blood proteins that are
major targets of antiphospholipid antibodies are b2-glycoprotein
I and prothrombin.
1-5% of the general population is believed to have APS.
15-20% of all cases of blood clots in large veins (deep vein
thrombosis), including blood clots that go to the lungs (pulmonary embolism)
are due to APS.
10-25% of women with recurrent
miscarriages have APS.
One third of strokes occurring in younger people (under the age
of 50) are due to APS.
APS is a major women’s health
issue: 75-90% of those affected by APS are women.
Brief stroke-like episodes called transient ischemic attacks (TIAs),
for example, loss of vision
Decreased levels of platelets
(small blood cells involved in blood clotting)
Heart valve problems,
sometimes requiring valve surgery or valve replacement
Persistent or transient
blotchy, lacy bluish rash (called livedo reticularis)
Skin ulcers, most commonly on
the legs or fee
“Catastrophic” APS – a very rare, life-threatening syndrome in
which clots form in small blood vessels of multiple organs (such as heart,
lungs, brain, kidneys)
Other features that might
be associated with antiphospholipid antibodies include:
Problems with thinking clearly (loss of concentration,
difficulty with reading comprehension and performing calculations, memory
loss)
Neurological problems similar
to multiple sclerosis.
Migraine headaches, sometimes
with visual disturbances
Other neurological symptoms including episodes of partial or
total vision loss, dizziness, vertigo, loss of balance, seizures, and other
abnormal movements
Physicians use a combination of clinical symptoms (see above) and
laboratory tests to diagnose APS. The common blood tests for antiphospholipid
antibodies are as follows:
Anticardiolipin antibodies (IgG,
IgM, and IgA)
Lupus anticoagulant – a panel of blood clotting tests that may
include the dilute Russel Viper venom time (dRVVT), lupus aPTT, mixing
studies, and hex phase phospholipid test, platelet neutralization procedure
Antibodies to b2-glycoprotein
I (IgG, IgM, IgA)
Panels of tests for antibodies to phospholipids other than
cardiolipin are available but have not undergone the rigorous international
standardization efforts applied to anticardiolipin assays. A number of experts
in the field question the usefulness of these panels, which may be quite
expensive.
There is no cure for APS, but there is treatment. The treatment
of choice for patients with APS who have had a blood clot is anticoagulant
therapy. This is usually successful in preventing further clots. For women
with APS and recurrent miscarriages who have not had a prior blood clot, the use
of anticoagulant therapy during the pregnancy significantly increases the
likelihood of a successful outcome. Some individuals may have elevated
antiphospholipid antibodies but have no clinical manifestations of the
syndrome. These individuals are usually treated with aspirin. Aspirin reduces
the risk of blood clots by making the platelets less sticky. Studies are
ongoing to determine how helpful aspirin is and whether low doses of
anticoagulants might be more effective.
In general patients who have had a blood clot (i.e., stroke,
heart attack, DVT) and have persistently positive tests for antiphospholipid
antibodies should be treated with anticoagulants indefinitely. Discontinuing
treatment after a fixed period of time, such as six months, may be quite
dangerous in such patients. In some patients with a history of blood clots,
antiphospholipid antibodies may disappear after a certain period of time. It is
not known whether it is safe to stop anticoagulation in this situation.
Consultation with a doctor experienced in treating APS is recommended for such
patients.
Although APS is actually one of the more common autoimmune
diseases, some primary care doctors remain uniformed about it. When their
patients have symptoms of APS, these doctors may not test for antiphospholipid
antibodies soon enough or at all. Unfortunately, many patients have had to see
several physicians and specialists before getting the proper diagnosis and
treatment.
The type of doctor a patient sees should be determined by the
symptoms the individual patient is having, and any given patient may benefit
from the input of several specialists. For patients with blood clots, a
hematologist would be involved, often for management of anticoagulant therapy
(blood thinner). For patients with recurrent miscarriages, a high-risk
obstetrician should be consulted. For patients who also have rheumatologic
symptoms, such as symptoms of lupus, a rheumatologist would be important to see.
Of course, all patients would benefit from having a single physician identified
as their primary care provider, to help coordinate all of their healthcare
needs.
Women with APS may have difficulties with pregnancy. During
pregnancy, women are at higher risk of developing blood clots and preeclampsia.
In APS, pregnancies are thought to be lost because blood clots form in the
placenta and starve the baby of nutrition. Some women may have trouble getting
pregnant, while others may experience repeated miscarriages. Blood clots that
develop in the placenta can cause fetal growth problems, fetal distress, preterm
birth, or pregnancy loss.
Expert care and close monitoring of the pregnancy is essential by
a doctor knowledgeable about APS. During pregnancy, physicians may recommend
low doses of aspirin and daily injections of the blood thinning drug, heparin.
This gives the fetus about an 80% chance of survival, a drastic improvement from
the 1980's when fetal survival was around 20%. The therapy is started at the
beginning of pregnancy and halted just before delivery to reduce the risk of
bleeding during childbirth. Soon after birth, the treatment resumes for about
six weeks because of an increased risk for clotting in the postpartum period. In
a more serious case preeclampsia may set in towards the end of pregnancy and a
planned premature birth may be necessary. Heparin can cause bone loss, so women
may need to take additional calcium during pregnancy. In addition, women need to
be monitored for development of a low platelet count.
Over the long term, many doctors recommend women continue to take
a low dose of aspirin to reduce the risk of developing dangerous blood clots.
Many women with APS are unaware they have the condition, but it can be diagnosed
with a blood test. Doctors may consider the diagnosis when a woman has repeated,
unexplained pregnancy loss.
If you are trying to get pregnant or are pregnant it is very
important to let your doctor know immediately. Continued use of warfarin may
cause birth defects. The doctor will change your medication to a different blood
thinner that is safe. Using proper treatment, women with APS have about the same
risks as other women during pregnancy.
APS pregnancies are not normal. Normal pregnancy is 40 weeks. In
APS, it is more common to deliver the baby between 30-35 weeks, and between 3-5
pounds. Heparin protects the placenta partially, but not fully so that the baby
gets enough nutrition to survive longer in the mother. Once born, the babies do
fine.
Many women who have problems with APS during pregnancy are
completely fine when not pregnant. Others do go on to develop problems with
clotting. Currently there is no way of telling which women will be unlucky,
until a clot actually occurs.
Infertility has also been linked to antiphospholipid antibodies.
Testing for these antibodies is becoming routine in infertility clinics.
Birth Control Pills & Hormone
Replacement Therapy
Women also need to avoid estrogen therapy (such as birth control
or hormone replacement therapy) because estrogen predisposes patients to
clotting.
Other forms of contraception should be discussed with your
doctor.
Problems with Periods
Some women taking warfarin experience problems with increased
bleeding. It can lead to anemia. Tell your doctor about this problem. The
doctor can recommend several options and prevent anemia. One example is: for
women who have already given birth and are not actively trying to conceive, the
Mirena® IUD has been successful in reducing period blood loss. As it only
releases hormones to the uterus lining and is not absorbed into the blood
stream, therefore, it is safe for women with APS to use.
You may notice you bruise more easily or little cuts will bleed
longer when you are taking warfarin (Coumadin®). Injuries can be more serious
when on anticoagulants and care should be taken during any activity that can
result in injury. Contact sports are not recommended.
If, while on anticoagulants, you injure your head, go directly to
the Emergency Room. Your brain is very sensitive to a bleeding while on
anticoagulants.
If a serious injury does occur go directly to the Emergency Room
and be sure they know you are taking anticoagulants and tell them what your most
recent INR was.
You should have Medical Alert bracelet and wear it at all times.
You can order one through Medic Alert at
http://www.medicalert.org. A bracelet is the most visible, the easiest
and the most recognized however, there are also necklaces and other types
available.
Long trips, especially by air, have some clotting risk even for
non-APS people. It is important for people with APS to get up and walk around
at least every couple of hours. On long car trip stop at least every two hours
and walk. Drink plenty of water and wear compression stockings to help reduce
your chance of DVT. If you plan to be away during the time of a periodic blood
test, arrange for the blood test before you leave for the trip.
It is very important to take your medicine every day. Try to take
your the medicine at the same time each day for consistency. You may want to
get a pillbox that holds at least one week’s supply of the pill(s) or to mark it
on a calendar when you take your medicine. This will help you to know when you
have taken your pills. Do not take two doses in one day if you have forgotten
your dose.
If you test positive for APS Antibodies you should be aware of
the symptoms caused by blood clots. If any of these symptoms occur, seek medical
help immediately. Symptoms that could be caused by a blood clot include:
Heart
Attack
Chest discomfort or pain. Most heart attacks involve discomfort
in the center of the chest that lasts more than a few minutes, or that goes away
and comes back. It can feel like uncomfortable pressure, squeezing, fullness or
pain. Generally becomes so bad that it may feel unbearable and relentless, but
occasionally the pain can be milder.
Discomfort in other areas of the upper body. Symptoms can
include pain or discomfort in one or both arms, the back, neck, jaw or
stomach.
Shortness of breath. This
feeling often comes along with chest discomfort. But it can occur before the
chest discomfort.
Other signs may include
breaking out in a cold sweat, nausea or light-headedness.
Stroke
Strokes (Blood Clot in the brain) can be life threatening. Some
stroke symptoms may last only minutes or a few hours and are called TIA’s.
(Transient Ischemic Attack or mini stroke.) Rapid treatment (within three hours)
is vital. Medical treatments that reverse the stroke damage is available—but
only if you seek immediate treatment. Stroke symptoms are:
Sudden numbness or weakness of the face, arm or leg, especially
on one side of the body.
Sudden confusion, trouble
speaking or understanding speech.
Sudden trouble seeing in one
or both eyes.
Sudden trouble walking,
dizziness, loss of balance or coordination.
Sudden, very severe headache with no known cause. Can also be
very severe headache that lasts for days.
Clots in other locations
Muscle pain, numbness, or tingling, pale color, weakness, muscle
spasm in a leg or arm.
The arm or leg feels cold, hot
or swollen to touch. May feel like a muscle strain.
Extreme pain without a cause,
anywhere in the body.
Shortness of breath, or chest pain (under the breast bone or on
one side of the chest) may radiate outward from the chest. (This could
indicate a clot in the lungs or a heart attack.)
Sudden heavy cough especially
if you cough up blood.
Rapid breathing.
Heart
attacks, strokes and other blood clots need immediate medical attention. Go
immediately to Emergency Room.
If you feel these warning signs, DIAL 911 IMMEDIATELY.
Most people wait 2 or 3 hours before seeking care, yet by then the heart may
suffer significant damage. Dial 911 within 5 minutes if you or someone you are
with experiences these symptoms.
APS treatment is life long. Treatment of blood clots caused by
APS outweighs the small side effects by treatment.
Most of the time people with APS will appear on the outside just
as they did before they were diagnosed. Because of this, it may be difficult for
family and friends to understand that you have a life threatening illness and
that you just can’t do some of the things that you could before. They can’t see
what is going on with your body and this can become quite frustrating on both
ends.
In some cases you may want a therapist to help you adjust. Any
person with a life threatening disease is at risk of being depressed. In some
cases this progresses to clinical depression. It is very important to discuss
your mental health with your doctor as well as your physical health.
The APS Foundation of America, Inc has a place on the Internet
where you can communicate with others who have this disease. You can find our
support forum at
http://www.apsforum.com. You are the only one who knows exactly how you
feel. Others with the same disease are very understanding and support groups of
some kind can make your life much fuller. Your immediate family and children
should be told about your disease, how it affects you, what it means to them as
well as what you may have to expect of them in support.
The good news is: many people with proper treatment live normal
full lives. Others may find their lives changed forever due to APS, but a
positive attitude will mean that life can still be worthwhile and fulfilling as
the correct treatment prevents further problem.
The APS Foundation of
America, Inc.
http://www.apsfa.org
Founded in June 2005, the APS Foundation of America, Inc. is dedicated to
fostering and facilitating joint efforts in the areas of education, support,
research, patient services and public awareness of Antiphospholipid Antibody
Syndrome in an effective and ethical manner.
The APS Friends and
Support Forum
http://www.apsforum.com
This is an open forum for people who have Antiphospholipid Antibody Syndrome,
friends, family and caregivers. Please feel free to participate in any of the
discussions listed, browse around or post your own new discussion. We always
welcome new members and returning members with open arms!
Antiphospholipid Syndrome
Collaborative Registry (APSCORE)
http://www.apscore.org
The Antiphospholipid
Syndrome Collaborative Registry (APSCORE), sponsored by the National Institute
of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National
Center on Minority Health and Health Disparities (NCMHD). The purpose of this
national registry is to collect and update clinical, demographic, and
laboratory data on patients with Antiphospholipid Syndrome (APS), as well as
patients with antiphospholipid antibodies who do not have other symptoms
commonly associated with APS. The registry also serves as a repository of
blood samples from those enrolled in the registry.
Rare Diseases Clinical
Research Network
http://www.rarediseasesnetwork.org
The Rare Diseases Clinical Research Network was created to facilitate
collaboration among experts in many different types of rare diseases. Our goal
is to contribute to the research and treatment of rare diseases by working
together to identify biomarkers for disease risk, disease severity and
activity, and clinical outcome, while also encouraging development of new
approaches to diagnosis, prevention, and treatment.
Thrombosis Interest Group
of Canada (T.I.G.C)
http://www.tigc.org/default.htm
Thrombosis Interest Group of Canada (T.I.G.C) is dedicated to furthering
education and research in the prevention and treatment of thrombosis. The
Thrombosis Interest Group of Canada consists of a group of 40 specialists in
fields related to thrombosis who collaborate to write evidence-based or
consensus-based clinical guides on the investigation, management, and
diagnosis of thrombotic disorders.
There are many ways you can help the APS
Foundation of America, Inc. You can volunteer your time & talents such as in
the area of fundraising, advocacy, finance or support group experiences, donate
money or purchase APS gear through our webpage at
www.apsfa.org or through our Café Press at
http://www.cafepress.com/apsfoundation. The APS Foundation of America, Inc
is a non-profit organization. Your donations are greatly needed to help us
provide awareness, support, and education of this disease. We need your
enthusiasm and monetary support to help our individuals, family, friends and
caregivers battle the long-term consequences caused by APS. Thank you in
advance for your support and time. Please contact us at
through our website
or at 608-782-2626 for more information.
Please send donations to:
APS Foundation
of America, Inc
Post Office Box 801
La Crosse, Wisconsin 54602-0801
APS Foundation of America, Inc. is not intended to replace
standard doctor-patient visits, physical examination, and medical testing.
Information given to members is only an opinion. All information should be
confirmed with your personal doctor. Always seek the advice of a trained
physician in person before seeking any new treatment regarding your medical
diagnosis or condition. Any information received from APS Foundation of America,
Inc is not intended to diagnose, treat, or cure. This brochure is for
informational purposes only.
If you think you may have a medical emergency, call your doctor
or 911 immediately.
A team of people contributed to this publication. Information was
adapted from various website, books and other media sources. Please
contact us through the website for a complete list of sources. This pamphlet was assessed
at draft stage by doctors, allied health professionals, an education specialist
and people with APS. A non-medical editor rewrote the text to make it easy to
understand and an APS Foundation of America, Inc. medical editor is responsible
for the content overall.
DISCLAIMER: APS
Foundation of America,
Inc. website is not intended to replace standard doctor-patient visits,
physical
examination, and medical testing. Information given
to members is only an opinion. All information should
be confirmed with your personal doctor.
Always seek the advice of a trained physician in person before seeking
any new
treatment regarding your medical diagnosis or condition. Any
information
received from APS Foundation of America, Inc.
website is not intended
to diagnose, treat, or cure. This site is for informational purposes
only.
If you think you may have a medical emergency, call your
doctor or 911
immediately.