Chapter One
Know the Enemy
In a war, one of the most effective weapons you can have is intelligence. It is vital to gain as much information about the enemy as possible. The same scenario applies to any illness, and it is particularly true with antiphospholipid syndrome. Although in the next decade most people will have heard of this condition, at the moment it is relatively new, and awareness of it is frustratingly limited among the general public and, worse, within the medical profession. It is therefore wise to arm yourself with as much information as you can; by doing so, you improve your chances of getting yourself seen by the right experts and of receiving the treatment that could be lifesaving. It is also possible that you will end up knowing more than some of the medical professionals who examine you.
Basics about the Disease
First things first. Let's tackle the name of the condition. Its scientific name is antiphospholipid syndrome (abbreviated as APS or APLS), and this is the name by which it is still most commonly identified in many areas of the world, including the United States. Some medical professionals in the United States use the term antiphospholipid antibody syndrome, or APLA syndrome. I know these names are a mouthful, and they probably mean nothing at all to you unless you are medically trained. I will go into what they mean later.
In the United Kingdom, the condition is more widely referred to as Hughes syndrome, in honor of the renowned British physician Dr. Graham Hughes, who first identified it. Another name for it is sticky blood, a term that was coined by the media. The term is not scientific, nor is it completely accurate, but it cleverly describes what the condition actually does. It is also easier to remember and to spell than the word antiphospholipid! In this book I use all these names interchangeably, but since I am British, and in keeping with my British-based research about the illness, I most often use the name Hughes syndrome.
The next step is to get an idea of what the disease is and how it works. The battleground is within your own body. The enemy is the very mechanism that would normally protect you, namely your immune system. Hughes syndrome is diverse and fickle; it is a condition that recognizes few medical boundaries. This is because of how it works. In simple terms, the immune system turns against itself and becomes overactive. (Read more about how the immune system malfunctions in Hughes syndrome later in this chapter.) The body is fighting imaginary intruders, and as a result the blood becomes thicker and is therefore more likely to clot. Because blood flows through every part of the body, the disease has free access to wherever it decides to target. It can strike anyone, regardless of sex or age. Those affected range from toddlers suffering strokes to seniors having blood clots. It can affect any part of the body at any time for no apparent reason. There is no limit to the range of the disease; sufferers can endure mild symptoms and live a relatively normal life, or they can be so ill they are confined to a bed or wheelchair. In the worst cases, Hughes syndrome can be fatal.
The disease can mimic other illnesses, a fact that makes it difficult to diagnose. Doctors specializing in this field are finding a significant number of patients being referred to them who have been told they are probably in the early stages of multiple sclerosis. Then when they are given the simple blood test for APS, it comes back positive. The difference between MS and Hughes syndrome could not be more profound. MS can be a progressively and permanently debilitating disease, whereas the symptoms of Hughes syndrome are highly treatable and can be effectively controlled. Chapter 6 in this book deals with the differences between MS and Hughes syndrome.
Besides the challenges imposed by the fact that this disorder mimics other illnesses, getting a diagnosis of Hughes syndrome is also difficult because of the variety of symptoms it presents. Moreover, doctors won't find Hughes syndrome if they are not looking for it. Anyone who has been suffering from an unidentified cluster of symptoms for months or possibly years dreads seeing their doctor and hearing yet again, "I'm afraid we just don't know." Those few words can be devastating if you are the one feeling awful. You begin to wonder whether you have been imagining all those ailments; you worry that perhaps you are behaving like a hypochondriac. I have interviewed many APS sufferers who had been told that they were having a hysterical reaction and for whom antidepressants were dished out. Hopefully, reading this book will help convince some people that they are not losing their marbles; they are just unwell.
Hughes syndrome is not really a rare condition, but it may seem to be because so few people have heard of it. In Britain, it is estimated to be responsible for a quarter of all recurrent miscarriages and for one in five strokes in people under age forty. In the United States, antiphospholipid antibodies (APLA) have been reported present in 11-22 percent of women who have had recurrent miscarriages. The word about APS is getting out as more information becomes available. Dr. Hughes is quite clear on the question of how common it is. He states, "I believe that this syndrome will become the most diagnosed autoimmune disease of the twenty-first century-more prevalent than rheumatoid arthritis, lupus, MS, or ME [myalgic encephalomyelitis, better known as chronic fatigue syndrome]." It is possible that as many as one in two hundred people in high-risk groups would prove positive for Hughes syndrome. Considered worldwide, that is a staggering number.
If you are reading this book, it means you have most likely heard of APS, sticky blood, or Hughes syndrome. It also means you suspect or know that you or someone close to you has the condition. You have probably been desperately searching for more information and have found that precious little is available at the moment. This book aims to provide answers to your questions. In addition, the Resources section, at the back of the book, will direct you to other sources of information.
Signs and Symptoms
What should you look for if you suspect that you have Hughes syndrome? Each patient is different, but a number of danger signs exist, including:
* Any blood clots (thrombosis) in either the veins or arteries; * Recurrent miscarriage. Doctors regard this as meaning three or more miscarriages, but Graham Hughes thinks tests should be done after even one miscarriage that occurs late-term; * Strokes, especially in people under forty years of age; * Memory loss, speech difficulties, symptoms of early Alzheimer's; * Headaches, migraines, and seizures; * Pins and needles, trouble balancing or seeing, symptoms associated with multiple sclerosis; * Extreme fatigue; * Muscle pains and cramping; * Blotchy skin, known by doctors as livedo reticularis, in which the blood vessels can be seen under the skin; * Low platelet count, which can lead to bruising.
Testing for APS
If a doctor suspects you might have Hughes syndrome, two simple, inexpensive, and conclusive blood tests are available worldwide. The first test is for anticardiolipin antibodies, commonly referred to as aCL or sometimes ACLA. The second test is for a substance with a confusing name, lupus anticoagulant, or LA-confusing because it is not a test for lupus. (More about these tests is covered in Chapter 12.) The science behind these tests is that normally the body has its own natural protection against too much clotting, but in a patient with Hughes syndrome, the immune system produces antibodies that make the blood far more "sticky" and therefore more likely to clot. These antibodies alter the shape of the platelets and the walls of the blood vessels, conditions that in turn affect the free blow of blood.
Antibodies are proteins manufactured by specialized white blood cells. Another name for them is immunoglobulins. They are an important part of the immune system, the body's method of resisting disease. Antibodies work by attacking substances that the body recognizes as foreign. Viruses and some bacteria are examples of foreign substances acted upon by antibodies. However, as alluded to earlier in the chapter, sometimes the immune system malfunctions, misinterprets the body's own tissues as foreign, and sends specialized antibodies called autoantibodies to attack those tissues, resulting in an autoimmune reaction. Antiphospholipid syndrome is an autoimmune disease. (Other examples of autoimmune diseases include lupus, multiple sclerosis, insulin-dependent diabetes, rheumatoid arthritis, and some forms of thyroid illness.) In Hughes syndrome, the body misidentifies phospholipids (a type of fat molecule that forms part of every normal cell's membrane) as foreign and produces antibodies against them. There are several types of antiphospholipid antibodies, but establishing the presence in the blood of the two listed above, LA and aCL, has been established by medical experts as the best way of determining that someone has APS.
Originally, it was thought that only individuals with lupus (systemic lupus erythematosus, or SLE) carried the antiphospholipid antibodies. Then Dr. Hughes and his team determined that people could have APS independently of lupus. APS that occurs by itself is sometimes called primary APS (or primary Hughes syndrome); when it accompanies lupus or a related disease, it is called secondary APS (or secondary Hughes syndrome). (Read more about the link between lupus and APS in Chapter 9.)
Possible Causes
What causes Hughes syndrome? At the moment no one knows why the body begins manufacturing antiphospholipid antibodies. Some evidence indicates that there could be a genetic link, and some of the patients whose stories are told in this book feel certain that the condition has run in their families undetected for generations. Autoimmune conditions do tend to run in families. It is frustrating to be unable to point to a cause and say, "There, that's the culprit," but as with many autoimmune conditions, things just aren't that straightforward. That said, you might want to quiz members of your family or check your family history to see if older generations suffered from thrombosis, strokes, recurrent miscarriages, severe headaches, or even growing pains. It is possible that the clues you need to trace your illness are staring out at you from the family tree.
People often ask if the illness has to do with stress. There is no simple answer to that question. Dr. Hughes has found that a link does seem to exist, but no research has yet backed this up. From my conversations with patients, it is quite clear that they often believe a direct connection exists between a major event in their lives and a flare-up of the disease. Some find that even when they are on medication for APS, an increase in stress, such as losing a job or the breakup of a marriage, will act as a trigger for the symptoms to return. It makes sense that a terrible event in someone's life will affect his or her health, especially if that health is already erratic.
Evidence also exists that a viral infection might trigger sticky blood. Patients have reported first noticing a sore throat or a case of the flu, just before beginning to suffer from the symptoms of Hughes syndrome. Is diet a factor? No one knows. The current wisdom for Hughes syndrome is the same as it is for virtually any illness: Eat a balanced diet and get regular exercise. There is no evidence that following such advice works to ameliorate the symptoms, but there is no evidence that it doesn't.
Basics about Treatment
Some APS patients turn to alternative medicines, but the effectiveness of these medicines is tricky to judge. The mainstream treatment is hard to beat, and there is plenty of evidence that it works and can improve symptoms within days if not hours, often without nasty side effects.
What is the most commonly prescribed treatment for Hughes syndrome? It is the use of drugs to thin the blood. Think of it logically: If you have thick blood, the answer must be to thin it. It sounds so simple, and in a way it is. The pharmaceutical industry has developed a whole range of drugs known as anticoagulants. These include warfarin (often referred to by its brand name, Coumadin), heparin, and, most common of all, aspirin. Side effects can occur with each of these drugs, but the incidence of such effects varies with the individual. New versions of the drugs are being developed all the time. (Read more about these three medications in Chapter 12.)
Monitoring
Once a patient is diagnosed as having Hughes syndrome, it is imperative that his or her blood be monitored. Doctors keep a close eye on the INR, or internationally normalized ratio, a set of numbers for determining whether the blood falls within the range for what is regarded as a normal blood thickness. The test to check INR is most often carried out in a doctor's office, hospital, or lab, although home test kits are available. Even a tiny fluctuation in the INR can result in the return of such symptoms as slurred speech, headaches, vision disturbance, blood clots, and mini-strokes. Many patients who have lived with their condition for years have become such experts at recognizing the warning signs that they get help before they become extremely ill yet again.
How Can You Help Yourself?
The best way a person with APS can help himself or herself is by getting the proper diagnosis and treatment. Yet doing so can be a challenge, because one of the major problems with the illness at this stage is the lack of awareness about it among medical professionals. That's why it is vital for Hughes syndrome patients to be proactive.
What do I mean by "proactive"? I mean you must be the kind of patient who informs yourself about the illness and your treatment options rather than merely waiting for your doctor to tell you what to do. I will repeat some advice included in another book on a different health-related topic: It says, in essence, if you wish to simply follow your doctor's instructions without question and go blindly into treatment, or if you wish to bury your head in the sand and do little or nothing to help yourself, then this book isn't for you. If, however, you want to learn everything you can about the disease and about what to expect, then keep reading. Such a person wants to take an active role in his or her health care. Such a person wants to do everything possible to survive and thrive. Research has shown that patients with life-threatening illnesses who take an active role in their health care live longer and enjoy a better quality of life than those who don't. To help yourself in the battle against Hughes syndrome, then, you must start by deciding to do so. (Continues...)
Excerpted from Positive Options for Antiphospholipid Syndromeby Triona Holden Copyright © 2003 by Triona Holden. Excerpted by permission.
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