Frequently Asked Questions (FAQ)

The catastrophic antiphospholipid syndrome is a very rare complication encountered in a subset of patients with antiphospholipid syndrome. This rare syndrome is characterized by the development of multiple blood clots that block small blood vessels in several organs in the body. The organs most commonly affected by these small blood clots include the heart, lungs, nervous system, and kidneys. In many ways, this syndrome is similar to another rare disease, thrombotic thrombocytopenic purpura.

There are two forms of Antiphospholipid Syndrome. There is Primary Antiphospholipid Syndrome meaning it is a stand alone disease. There is also Antiphospholipid Syndrome associated with other autoimmune disease, mainly lupus.

Antiphospholipid antibodies may be detected in individuals who are completely asymptomatic, but, in some patients, these antibodies may be associated with a rapidly progressive disorder that can be fatal. In addition, the blood clots that can be seen with these antibodies can be fatal, depending on how large they are or which blood vessels are affected.

No, APS is not a contagious disease.

APS is not hereditary in the sense in which we usually use that word—that is, the sense that we learned about in biology classes, where the precise “odds” of a trait being passed along to children can be calculated. Diseases or conditions with that sort of direct heredity are typically tied to one or more identified genes.

No cause for APS has yet been singled out. We do know that it belongs to the “family” of autoimmune diseases, in which antibodies to tissues of the patient’s own body can be found—although how much mischief such antibodies may cause can vary considerably from one person to another. We also know that a tendency to some sort of autoimmune pattern (but not necessarily illness) tends to be familial; that is, when someone has one of these conditions, and their relatives are studied, a higher-than-usual presence of autoantibodies (not necessarily the same ones) is often found.

So the short answer to your first question is no. As to your second question: It may well be a good idea, since the testing simply involves analysis of a small quantity of drawn blood and will not harm your child. Do bear in mind that a diagnosis of APS isn’t based on blood tests alone; there must also be clinical evidence. If your youngster is found to have one or both of the two antibodies associated with APS—anticardiolipin (ACL) or lupus anticoagulant (LAC)—that doesn’t mean that your child either has APS or will ever have APS; many people have one or both and never become ill. Based on present knowledge, we can only say that we believe that such a finding in a healthy person may possibly signify some general susceptibility to autoimmune disease.

Our body’s immune system fights infection by making antibodies. The antibodies work by finding invaders and coating them for removal. Sometimes the immune system gets confused and begins to make antibodies against the body itself. For example, in rheumatoid arthritis the immune system attacks the joints. Because of this, people with rheumatoid arthritis get joint pain and swelling.

Antibodies are small proteins in the blood that help fight infections. For example, when you get the flu vaccine, your body makes antibodies against the flu virus. If you later get exposed to the flu virus, you already have antibodies ready to fight off the virus so that you don’t get sick.

Phospholipids are found in the blood and help keep the blood flowing without too much clotting or bleeding. Antibodies against phospholipid-binding plasma proteins (antiphospholipid antibodies) mess up the normal balance between clotting and bleeding. The antibodies can increase a person’s chance of having a blood clot.

The anticardiolipin antibody is one of the antiphospholipid antibodies. To find this antibody, a blood sample is mixed with an antibody against the anticardiolipin antibody.

To test for antiphospholipid antibodies, your doctor will take some of your blood and test it for the lupus anticoagulant (LA) and anticardiolipin (aCL) antibodies.

Most the time, doctors do not know why some people get antiphospholipid antibodies. In a small number of people, an infection or drug caused the antibody. Some kinds of autoimmune diseases cause the antibody. In other cases, the antibody seems to run in families. The point of this study is to try and find the genes that cause APS.

Yes, as with other antibodies identified as factors in autoimmune disorders, levels of those playing major roles in APS—anticardiolipin (ACL) and lupus anticoagulant (LAC)—can indeed vary from time to time, sometimes (rarely) even falling so low as to be virtually undetectable.
It’s important, though, for patients (and their doctors, too) to realize that determination of these varying values, while often quite valuable, isn’t the sole—or even the main–therapeutic guide. Physical examination and observation–by both patient and physician—are key. If those seem to conflict, the best course is usually heightened alertness rather than radical change in treatment.

Another consideration is that lab tests can answer only what we ask of them. We look for ACL and LAC, because they’re known to be key. But we’ve known about their role for only a relatively short time, less than three decades. As-yet-undiscovered factors, including other antibodies, may also play major parts. Medicine in general, and the field of autoimmune disorders in particular, has much to learn. 1/31/06 — S.P.B, MD

In theory, diagnosis is easy. The doctor simply needs to think of the possibility of Antiphospholipid Syndrome. However, the features can seem so unconnected (e.g.memory loss, previous DVT, headaches, previous miscarriage and ‘multiple sclerosis’) that the diagnosis may not come to mind.

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 the 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.

If a person gets a blood clot from APS, an anticoagulant is normally given. Blood thinners make it less likely that another blood clot will happen.

An anticoagulant is a medication that thins the blood, making the blood less likely to clot. Warfarin (Coumadin^®), heparin, and low molecular weight heparins (for example, Lovenox) are all anticoagulants, or “blood thinners”.

The lupus anticoagulant is one of the tests to detect antiphospholipid antibodies.

People with antiphospholipid syndrome (APS) are more likely to get blood clots. The clots may happen in the deep veins of the arms or legs. When this happens, these clots are called deep venous thrombosis or “DVT“.

A blood clot can also happen in the lung. A blood clot in the lung is called a pulmonary embolism, or “PE“.

Women are more likely than men to be affected by Antiphospholipid Syndrome. Some estimates say that 75% to 90% of those affected are women. For example, it has been estimated by some doctors that one third of all of young strokes (defined as under the age of 50) are due to Antiphospholipid Syndrome. In obstetrics it is estimated by some doctors that up to 25% of all women with 2 or more spontaneous miscarriages have Antiphospholipid Syndrome. It is also believed by some doctors that 1 in 5 of all Deep Vein Thrombosis (DVTs), Pulmonary Embolisms (PEs) and even worse, amputations are caused by Antiphospholipid Syndrome. And it is believed that 10-15% of patients with Lupus also have Antiphospholipid Syndrome.

Still, with these statistics Antiphospholipid Syndrome is rarely discussed as a women’s health issue and is often misdiagnosed as something else, therefore the total number of people effected and true statistics are really unknown.

By definition, all patients with antiphospholipid syndrome have some type of blood clot, affecting either the arteries or the veins, or recurrent miscarriages or certain other complications during pregnancy. Other problems that may be seen in patients with antiphospholipid syndrome may include a particular type of rash (livido reticularis), low platelet counts (‘thrombocytopenia’), heart valve problems, certain fingernail changes, or other signs or symptoms. Lastly, some individuals may have elevated antiphospholipid antibody levels but be completely asymptomatic. In this situation, the antibody may have been detected by blood test results drawn prior to a surgical procedure, or for some other reason.

People with APS can also get blood clots in their arteries. If a blood clot reaches the brain, this is called a stroke. If the blood clot happens in the heart, this is called a heart attack or “myocardial infarction”. People with APS can also get blood clots in their arteries. If a blood clot reaches the brain, this is called a stroke. If the blood clot happens in the heart, this is called a heart attack or “myocardial infarction”.

For asymptomatic individuals who have antiphospholipid antibodies, some doctors recommend aspirin therapy, but, generally, no major lifestyle changes are necessary except lifestyle modifications to eliminate other thrombosis risk factors. For patients who have the antiphospholipid syndrome and have had a blood clot, treatment consists of anticoagulant therapy (“blood thinners”). Anticoagulant therapy with warfarin (most commonly, Coumadin^® ) does require attention to one’s diet (for a stable intake of vitamin K) and regular blood checks to monitor the medicine. Other recommendations for patients on warfarin therapy would be the same as for any individual who needs to take warfarin. Patients with problems with recurrent miscarriages may need to take a different type of blood thinner (a low molecular weight heparin, such as enoxaparin or dalteparin) during subsequent pregnancies. Lastly, patients with antiphospholipid antibodies should try to minimize any other blood clot risk factors (for example, not smoking, or not taking oral contraceptives or hormone replacement therapy).

There are no specific diet or exercise guidelines for the APS patient. If you have APS, you’re at heightened risk for problems involving the heart, lungs, and circulatory system. That means you should follow lifestyle guidelines calculated to minimize risk to those parts of your body, and they are essentially the very same guidelines that have been widely publicized for people who are known to suffer from high blood pressure, high cholesterol, and familial tendencies to overweight and/or diabetes.

To wit: Don’t smoke. Avoid heavily sugared and heavily salted foods, and foods containing (or prepared with) saturated fats and transfats. Eat a generally well-balanced diet, being sure it includes fruits, vegetables, and fish (if you’re a vegetarian, talk to your doctor about supplementary omega-3–and while you’re at it, ask your doctor’s advice about a multivitamin supplement). Keep your weight within the range your doctor says is right for you. Engage in moderate but regular exercise (needn’t be a formal program; do whatever you enjoy, but DO it), which is good for weight control, keeping bones strong, and circulation generally. 07/20/06 — S.P.B, MD

Yes, but consistency is the key. Some general nutrition dietary guidelines are: 1) Maintain the same diet, eat the same types of foods you ate regularly unless otherwise instructed. 2) Consult your doctor regarding any diet changes. 3) Avoid “binge” and crash diets. 4) Consult your doctor before taking any vitamins, mineral supplements or new medications. 5) An excess of foods high in vitamin K could have an effect on your anticoagulation: Limit to 1 serving per day (1 cup raw or ½ cup cooked): Spinach, Turnip greens, Cucumber peel, Broccoli, Brussels sprouts, Green scallion, Cabbage, Mustard greens. Avoid eating parsley, kale, seaweed, and green tea.

The answer to both questions is no, although the odds of your having one are probably a bit higher than average if you have the other. These are two distinct conditions and, while they frequently overlap, many people have one and not the other. The two major antibodies that distinguish APS, ACL and LAC, are frequently found in lupus patients, and certain other antibodies also occur with higher-than-normal frequency in both conditions. But the presence of one or more of these antibodies doesn’t necessarily mean that you have either condition; the diagnosis for either requires specific clinical evidence, not just antibodies found in lab tests.

The answer to your first two questions is: Not necessarily. That may, in turn, depend upon you–bringing us to your third question. In my opinion, the answer is definitely yes.

Historically and statistically, APS is associated with higher-than-usual susceptibility to a number of conditions with life-shortening potential.
Thus, while everyone should take prudent precautions to preserve and optimize health, APS underscores the importance of these precautions.

As you doubtless know, the chief potential threat in APS is the formation of clots that can interfere with the normal function of your heart and circulation (thus threatening other organs depending on that circulation, as well). That is, APS poses what medicine calls a “risk factor.” The risk is heightened if it’s combined with OTHER risk factors. You can take a number of steps to eliminate some of those factors:

• Two obvious and very serious risks are smoking and obesity. If you smoke, quit. If you’re overweight, get your weight down to normal and maintain it.
• Eat a sensible, balanced diet that’s low in cholesterol and other fats (including transfats), and includes such natural anticoagulants as peas, onions, scallions, and garlic.
• If you’ve already been diagnosed with any heart or circulatory problem–high blood pressure or high lipids, for example–and your doctor has prescribed medications and/or other measures, follow those directions faithfully.
• Don’t take oral contraceptives, which are thrombophilic—i.e., tending to encourage clot formation. (And since APS is not uncommonly seen in families, urge close relatives who may contemplate going on “The Pill” to be tested for APS first.)
• Talk to your physician about taking daily 81 mg (“baby” or “low dose”) aspirin, which discourages clot formation. NOTE: While this is an over-the-counter drug, you shouldn’t put yourself on such a regimen without medical advice.
• Other tests, for conditions that might suggest additional precautions, might be helpful, and your doctor may have already routinely performed such tests. These might include screening for lupus, for instance, which is often associated with APS, and for certain factors that may signal higher-than-average risk of heart disease.
• If you contemplate pregnancy, be sure to discuss it with your regular physician, and also be sure that you have expert prenatal care and monitoring by an obstetrician familiar with APS and skilled in the management of high-risk pregnancies. (And don’t even THINK about home birth; charming as the idea may seem, it’s not for you.)  12/24/06 — S.P.B, MD

Tough question. I think that they can work for many patients, but our healthcare system isn’t set up to manage patients from home like that. 3/29/06 — T.L.O, MD

This question relates to situations in which patients may be receiving anticoagulant (“blood thinner”) therapy; such therapy may be needed in a number of conditions, sometimes including APS, and use of a device to follow the therapy may be required, in the form of an INR monitor. (The initials stand for International Normalized Ratio; the monitor measures clotting time in comparison to the normal range of values, essentially evaluating the effect of the therapy.)

Should such monitoring be undertaken at home? Usually, the answer is no, but that may depend on the individual situation, especially how often monitoring is needed and whether there is some difficulty in the patient’s visiting the doctor’s office or other facility where the monitoring normally takes place. Cost may also be a factor (the monitors are not inexpensive), as may insurance coverage. Medicare, for instance, will provide compensation only under very specific conditions (see details here); other carriers doubtless have coverage criteria, as well. You should discuss the question with your own physician.

*Many people have problems with such machines giving accurate INR readouts. This could potentially be life threatening. Please be aware of these risks when researching & using these machines. Many of these machines have disclaimers about these risk factors, please be sure to read all manufacturer disclaimers prior to using/buying one of these machines.*

For patients with APS, we run concomitant finger sticks and blood draw INR’s for several measurements, to make sure that they come out pretty close over a range of results. Also, just because one meter works for one patient with APS does not mean it will work with another patient. 3/29/06 — T.L.O, MD

A person not on warfarin (=Coumadin^®) has a value around 1.0 (usually between 0.7 – 1.3). This is called a “normal INR“. Once a patient is on Coumadin^®, the INR increases. The higher the INR, the “thinner” the blood. Patients with DVT or PE are often kept at a target INR range of 2.0 – 3.0. This is also called “therapeutic INR range“. If the INR is above 3.0 in that patient, the blood is too “thin”; if the INR is below 2.0, the blood is not “thin” enough.  If a patient has had a second clot in spite of a therapeutic INR, the physician may increase the target INR range to 2.5 – 3.5 or even to 3.0 – 3.5. If one gets above 3.5, there is usually no increased benefit regarding the protection from blood clots, but the risk of bleeding increases significantly.  However some APS specialist recommend an INR of 3-4.5.  Some patients who have a lupus anticoagulant that influences the INR, rendering the INR unreliable. Warfarin (=Coumadin^®) therapy in these patients needs to be monitored by a test different to the INR, such as factor II level, chromogenic factor X level, or the P&P test.

For most of the patients with history of blood clots, Warfarin is lifetime treatment.

No, Coumadin or Warfarin will not cause liver damage. 3/29/06 — T.L.O, MD

The international normalized ratio, or INR, is a standard measure of protection against a tendency to form dangerous blood clots. If the anticoagulant drug Coumadin (warfarin), which is taken orally, has been prescribed but the INR doesn’t rise as anticipated, the dosage will generally be raised. But because there’s normally a wait for the higher dosage to take therapeutic effect, another anticoagulant, low molecular weight heparin (LMWH), is given by injection until the INR has risen to a protective level. If your physician has advised that you have such a series of injections, that’s the reason. 3/30/06 — S.P.B, MD

It really depends; for some patients, an INR of 7.5 is just a bit high; for others, it can be fairly high-risk for bleeding. Generally they should hold or decrease their Coumadin/Warfarin dose for a day or two. FFP is only given if the patient is bleeding. Sometimes vitamin K should be administered, however, usually if there is the potential for a bleed.  For some, just holding Coumadin/Warfarin will be sufficient. Of course, it will also depend on other symptoms. 3/29/06 — T.L.O, MD

These are the blood tests that are used to dectect antiphospholipid antibodies.

It may very well do so, depending on the precise nature of the test(s). When you’re scheduled to have any blood testing, talk to the physician ahead of time about any medications (prescription or not) that you take on a regular basis, and follow his or her instructions, which may involve skipping doses, not taking the medication within a certain number of hours prior to the test, etc. Usually, the physician, or someone in the doctor’s office, will offer any necessary directions routinely–but if nothing’s volunteered, ask, just to be sure.

No, a cold of virus will not affect the test results.

APS can indeed cause hypertension (high blood pressure), but only if there is renal involvement—that is, if clotting due to APS has resulted in circulatory problems involving the kidneys. But bear in mind that hypertension is a separate condition which affects many people, whether or not they have APS; two disorders in one person doesn’t necessarily mean that one has caused the other.

Uncontrolled hypertension, whether or not its cause can be traced directly to the antiphospholipid syndrome, does heighten the risk of APS complications. Anyone who has APS and high blood pressure as well should be especially careful to faithfully follow instructions for medications and regular checkups, so that both conditions are kept under control. 1/31/06 — S.P.B, MD

Not necessarily. Sudden stopping of an anticoagulant could, under some circumstances, have extremely disastrous results. And as I have often cautioned medical students: While laboratory assays are invaluable both in diagnosis and in following treatment, the physician should treat the patient, not the lab test.

How to handle this situation is very much a clinical decision, based not only on blood values but on the doctor’s experience, familiarity with the patient’s history, examination and, to be frank, gut feelings (medicine is an art as well as a science).

It should be noted, too, that in such a situation, the physician may feel that further lab tests should be ordered, since there are additional proteins (unrelated to APS) involved in the clotting process. Assessing the levels of these elements may be helpful in clarifying the picture. 4/25/06 — S.P.B, MD

This can be pretty variable, depending on the clinical manifestations of the individual patient. Some patients do very poorly very rapidly, and others have one event and do fine on anticoagulation. One thing about this syndrome, one size does not fit all. 3/29/06 — T.L.O, MD

Not really—although, as with the other autoimmune diseases, its signs and symptoms may vary from time to time. There may be only one clinical manifestation of APS—one episode of deep-vein thrombosis (DVT), for example–and then none ever again; it can’t be concluded that the threat is gone. All laboratory values for which we routinely test may even become completely normal and may stay that way for an extended period of time; that can’t be taken to mean that APS has vanished.

Meanwhile, anyone who has been diagnosed with APS—and his or her physician–should assume the persistence of risk and continue to take appropriate protective measures. 4/25/06 — S.P.B, MD

With regard to treatment, the first thing to do is work with your doctor to reduce or eliminate as many other risk factors for blood clots as possible. Stopping smoking, controlling blood pressure, and controlling obesity, may all be quite important. Your doctor may recommend avoiding certain medications that carry a risk for blood clots, for example, birth control pills containing estrogens.

Many experienced doctors in the field recommend low-dose aspirin (81 or 100 mg per day) for people with positive tests, but who have not had a blood clot. This assumes that the person is not allergic to aspirin and has no medical reasons not to take it. Aspirin probably reduces the risk of clotting significantly (but not entirely). Prospective studies to determine if and how helpful aspirin is are underway. In patients with lupus, a medication called hydroxychloroquine (Plaquenil) is sometimes used in this situation. Hydroxychloroquine is very helpful in controlling skin and joint manifestations of lupus and several investigators have observed that it also reduces the risk of blood clots in lupus patients with antiphospholipid antibodies. 06/27/06 — R.A.S.R, MD

You’re wise to be concerned about the kind of birth control you choose, and you’re right in concluding that you shouldn’t use either oral contraceptives or devices containing estrogen.

A word, first, about the specific products you mention, for those reading this who are unfamiliar with them. The Mirena is an IUD, which stands for “intrauterine device,” a device placed within the uterus; this particular IUD releases a hormone called levonorgestrel over a five-year period.

Micronor is a so-called “minipill,” a form of oral contraceptive; it contains a similar hormone, norethindrone. Both levonorgestrel and norethindrone are forms of progestin, a synthetic progesterone (a hormone, in addition to estrogen, produced in the ovaries; it’s also produced by the placenta during pregnancy).

Expert opinions, frankly, differ among both rheumatologists and gynecologists when it comes to the progestin-only products. There’s general agreement that IUDs all pose some risk of uterine perforation or other injury, and the particular one you mention is specifically not recommended for women who have had any prior pelvic inflammatory disease (PID), have experienced an ectopic (outside the womb) pregnancy, or who have not successfully borne at least one child. “Minipills” are generally viewed as not entirely dependable and have been reported to cause irregular bleeding.

My own feeling is that in the presence of a systemic illness that has itself been associated with a variety of other problems, it’s best to avoid all hormonal forms of pregnancy prevention. In my view, your best choice is a physical barrier form of contraception, of which there are a number of
choices: condom, diaphragm, cervical cap, and so on.

An alternative, if you are in a lasting relationship and are sure that you want to completely avoid the chance of pregnancy, is surgical contraception–tubal ligation (“tube tying”), or, for the man, vasectomy.

Although these procedures have occasionally been reversed, they should be considered permanent. 10/29/06 — S.P.B, MD

Most experienced physicians in the field recommend starting treatment as soon as the woman determines she is pregnant. Treatment is held around the time of delivery to avoid excess bleeding and then resumed for approximately six weeks. Treatment is continued because the period of time immediately following the birth of a baby, i.e., the postpartum period, is a time of increased risk for blood clots. 06/27/06 — R.A.S.R, MD

Technically speaking, the SYNDROME means that the patient has either had a blood clot (PE, DVT, stroke, etc) or recurrent miscarriages, in addition to the antibodies. Livido reticularis, fatigue, aches & pains, memory problems, etc, are frequently seen in patients with the syndrome, but they don’t qualify for making a patient have the syndrome in the absence of clots or miscarriages. 07/27/06 — T.L.O, MD