Antiphospholipid syndrome, also known as Hughes syndrome, causes disorders in the clotting process of the blood. Affected individuals suffer from thrombosis more quickly; the condition also often leads to complications during pregnancy.
What is antiphospholipid syndrome?
Antiphospholipid syndrome is a disorder that causes the body to mistakenly make antibodies against proteins that are not hostile. Antiphospholipid syndrome can lead to clumping of blood cells within the arteries, as well as complications during pregnancy, and in the worst cases, miscarriage. Also common is clumping of blood cells in the legs, also known as deep vein thrombosis. Clumping in vital organs is also possible, for example the kidneys or lungs. The resulting damage depends on the size and location of the clot. A clot in the brain, for example, can lead to a stroke. There is no cure for antiphospholipid syndrome, but physicians can reduce the risk of blood clots in affected individuals by individualized medication.
Causes
In antiphospholipid syndrome, the body makes antibodies against proteins that bind phospholipids, a type of lipid that plays a special role in blood clotting. Normally, antibodies are formed to eliminate invading foreign bodies such as bacteria and viruses. Two different types of antiphospholipid syndrome exist. In a primary antiphospholipid syndrome, no other autoimmune disease exists in addition to the disease. However, when another autoimmune disease is present, such as lupus, it is called a secondary antiphospholipid syndrome. In this case, the other disease is considered the cause of the antiphospholipid syndrome. The causes of primary antiphospholipid syndrome are unknown, but certain factors are associated with it. For example, some infections promote the onset of antiphospholipid syndrome. These include: Syphilis, HIV, hepatitis C, malaria. Some drugs such as hydrazalin or the antibiotic amoxicillin may also increase the risk. Genetic inheritance has not been proven, but within families, antiphospholipid syndrome is more common.
Symptoms, complaints, and signs
In general, antiphospholipid syndrome is associated with relatively clear complaints and symptoms. However, the disease cannot be completely cured, so only symptomatic treatment can be initiated. Affected individuals suffer relatively frequent miscarriages. Furthermore, embolisms and thromboses also occur, which have a very negative effect on the quality of life and on the everyday life of the affected person. Likewise, the antiphospholipid syndrome can significantly increase the risk of stroke or heart attack, so that the life expectancy of those affected is also often severely limited. Infarctions of the kidneys are also among the typical symptoms of antiphospholipid syndrome. In many cases, patients suffer a pulmonary embolism and may also die from it. The symptoms are accompanied by severe bleeding on the skin. There is often swelling and pain in the arms and legs. As a result, movement restrictions also occur. Likewise, those affected not infrequently suffer from psychological complaints related to the symptoms of antiphospholipid syndrome. The complaints themselves usually intensify without treatment, so that there is no self-healing. Eventually, if left untreated, the syndrome leads to damage to the internal organs and further to the death of the patient.
Diagnosis and course
If a person experiences multiple incidents of thrombosis or unexplained abortions, a physician may order testing of a blood sample to determine if abnormal clumping occurs or if antibodies to phospholipid can be found. Blood tests used to diagnose antiphospholipid syndrome look for at least one of the following antibodies: lupus anticoagulant, anti-cardiolipin, beta-2 glycoprotein I (B2GPI). To make the diagnosis of antiphospholipid syndrome, the antibodies must be detectable in the blood at least twice, in tests at least 12 weeks apart. Symptoms are difficult to detect.If unusual swelling of the arms or legs becomes noticeable, the affected person should see a doctor as a precaution, as well as if unusual bleeding occurs within the first 20 weeks of pregnancy.
Complications
Antiphospholipid syndrome is one of the relatively common autoimmune disorders. The symptom is found predominantly in women of all ages. Visual signs include bluish skin discoloration of the extremities and dermatologic ulcers that may appear in various parts of the body. Internally, there is already a deficiency of platelets. Furthermore, the destruction of red blood cells is in progress. Affected persons belong immediately to medical treatment, since paradoxical bleedings can occur. The risks of complications in antiphospholipid syndrome are wide-ranging. Women at risk are prone to thrombosis and miscarriage. In pregnant women, there is a possibility of intrauterine fetal death. If treatment is delayed, other complications may exacerbate the symptom. These include increased risk of heart attack, stroke, pulmonary embolism, and even renal infarction. Antiphospholipid antibodies can be detected in healthy people as well as in rheumatoid patients. The syndrome may occur as part of an independent disease or drug reaction. More often, however, it is based on an autoimmune disease. Chronic rheumatoid arthritis, psoriatic arthritis, scleroderma, cancer, HIV and hepatitis may be considered. The medical findings determine the treatment plan. In most cases, the patient is treated with ASA, heparin, aspirin, or plasmapheresis. If a thrombotic event has already occurred, an anticoagulant is prescribed over a longer period of time. Unless pregnant women have miscarriages or thrombi, they are followed intensively clinically to be on the safe side.
When should you see a doctor?
If there are recurrent cases of thrombosis, embolism, or unexplained abortions, a physician should be consulted. The physician can determine whether antiphospholipid syndrome is present based on a blood test and a comprehensive patient interview and, if necessary, initiate prompt treatment. Whether a visit to the doctor is necessary depends primarily on the type and severity of the symptoms. For example, a deficiency of antiphospholipids often progresses without clear symptoms. However, if swelling of the arms and legs is noticed that cannot be attributed to any other cause, a doctor must be consulted. The same applies to unusual bleeding during the first half of pregnancy and, in general, to cardiovascular complaints or unusual fever symptoms. In the event of a stroke, heart attack or pulmonary hemorrhage, the emergency physician must be called immediately. Sudden urinary retention and stabbing flank pain indicate a kidney infarction, which must also be treated immediately. In extreme cases, first aid and resuscitation measures must be taken until the ambulance arrives.
Treatment and therapy
Treatment of antiphospholipid syndrome usually consists of administering a drug that reduces the risk of blood clots. If thrombosis has been identified, treatment consists of medication with blood-thinning agents. These include: Heparin, warfarin and aspirin. Similar therapy during pregnancy is more complicated, costly, and requires regular injections that have some risk of side effects. Aspirin and heparin may also be prescribed during pregnancy. Warfarin is not usually used because it causes pregnancy defects. Only in rare cases does a doctor advise warfarin if the benefits outweigh the risks. Blood thinning therapy during pregnancy is complicated, but it shows high success in preventing miscarriage due to antiphospholipid syndrome. During appropriate therapy, the physician will test the blood’s clotting abilities to ensure that the patient’s wound will heal well if injured.
Outlook and prognosis
The prognostic outlook of antiphospholipid syndrome is tied to the location of the vascular occlusions and the frequency of occurrence of thrombosis. After thrombosis has developed, a prolonged period of therapy must be expected to achieve freedom from symptoms. B
ith a healthy lifestyle, a permanent cure is possible and very likely.Pregnant women who have not previously suffered a thrombosis also have good prospects of recovery. They are treated once and can expect to experience no adverse effects until the end of pregnancy. The outlook is less optimistic for women who suffer multiple vascular occlusions shortly after delivery or patients diagnosed with multiple thromboses after surgery. There is a risk of multiple vasoconstrictions spreading to numerous smaller and larger blood vessels. This results in a blood congestion in which several organs are not supplied with sufficient nutrients and messenger substances at the same time. If organ failure occurs, the patient suffers a life-threatening condition. The more frequently a patient suffers a thrombosis in the course of his life, the poorer his prognosis prospects become. Lifestyle changes, learning to be sensitive to early warning signals, or using preventive techniques can provide relief. In parallel, probability of occurrence reduces to a significant extent.
Prevention
There is no prevention of antiphospholipid syndrome. However, if one is aware of his or her condition and is on therapy, if necessary, certain aspects of daily life should be observed. If blood thinners are taken, contact sports should be avoided, soft toothbrushes and an electronic shaver should be used. If no medication is taken, the doctor should be informed about the condition whenever medical treatment is given.
Aftercare
In general, there are no known special options for follow-up care in antiphospholipid syndrome. The patient is primarily dependent on treatment of the disease by a physician so that symptoms are relieved and further complications are prevented. However, a complete cure cannot always be achieved. The earlier antiphospholipid syndrome is detected, the higher the probability of a positive course of the disease. In most cases, this disease is treated with the help of medication. It should be noted that various side effects may occur as a result of taking the medication. First and foremost, care should be taken to ensure that the medication is taken regularly, and attention should also be paid to possible interactions with other medications. If there is any uncertainty, the doctor should be consulted. Often a miscarriage can be prevented by taking the medication. Furthermore, contact with other people affected by the antiphospholipid syndrome can have a positive effect on the further course of this disease. It is not uncommon for this to lead to an exchange of information, which can be helpful for the further course of the disease. Support from friends and family can also be very helpful.
What you can do yourself
Regardless of the form of antiphospholipid syndrome, all affected individuals benefit from a healthy lifestyle that reduces the risk of thromboembolic events. First and foremost, this includes abstaining from smoking. Lack of fluids and exercise, obesity, and prolonged untreated hypertension are other factors that can be readily controlled with lifestyle changes. Patients with APS should avoid estrogen-containing contraceptives, as these can promote the development of thrombosis. All hormone-free contraceptives can be used as an alternative. After clarification by a specialist, it is also possible to take a so-called progestin-based minipill. Pregnancy should be carefully planned because of the increased risk. Treatment of antiphospholipid syndrome must be adjusted accordingly during pregnancy to prevent spontaneous abortions and not endanger the fetus. Women affected by APS who wish to become pregnant should therefore inform themselves in good time about possible risks and treatment options during pregnancy. Asymptomatic APS patients treated with low-dose acetylsalicylic acid or only observed are hardly restricted in their lifestyle. However, it is useful for them to familiarize themselves with the possible signs of thrombosis so that therapy can be started quickly if necessary. The exchange of experiences with other affected persons in a self-help group is also a valuable help for many APS patients in coping with everyday life.
