Antiphospholipid syndrome
Overview
Antiphospholipid syndrome, sometimes called Hughes syndrome or antiphospholipid antibody syndrome, is an autoimmune condition in which the immune system unintentionally produces antibodies which attack bodily tissues. Blood clots may develop in arteries and veins because of these antibodies.
When a person has antiphospholipid syndrome, their immune system produces abnormal proteins in the blood called antiphospholipid antibodies. When antibodies target phospholipids, it can lead to cellular damage. Blood clots may develop in their arteries and veins as a result of this damage.
The presence of antiphospholipid antibodies is linked to an increased susceptibility to blood clots; however, the precise underlying cause remains uncertain and is likely influenced by multiple factors.
Legs, lungs, and other organs like the kidneys and spleen can develop blood clots. Heart attacks, strokes, and other illnesses can result from the clots. Antiphospholipid syndrome during pregnancy can potentially lead to stillbirth, miscarriage, or preeclampsia. Although individuals may have antiphospholipid antibodies, there are cases where they do not have any signs or symptoms of antiphospholipid syndrome.
While there is currently no known cure for this atypical condition, medications can reduce the likelihood of miscarriage and blood clot formation.
Symptoms
Antiphospholipid Syndrome signs and symptoms that can include:
- Deep vein thrombosis (DVT): DVT symptoms include pain, redness, and swelling. Pulmonary embolism is the result of these clots traveling to the lungs.
- Repeated miscarriages or stillbirths: Premature birth and preeclampsia are other pregnancy risks.
- Stroke: A young person with antiphospholipid syndrome but no recognized cardiovascular disease risk factors may experience a stroke.
- Transient ischemic attack (TIA): A TIA often lasts only a few minutes and has no lasting effects.
- Rash: A lacy, net-like red rash can appear on certain persons.
The following signs and symptoms are less common:
- Neurological symptoms: When a blood clot prevents blood flow to certain areas of the brain, convulsions, dementia, and chronic headaches, including migraines are possible.
- Cardiovascular disease: Heart valve injury from antiphospholipid syndrome is possible.
- Thrombocytopenia: Periods of bleeding, especially from the gums and nose, may result from this decrease in blood cells essential for clotting. The presence of patches of small red spots on the skin indicates bleeding beneath the surface.
If experiencing unexplained nose or gum bleeding, abnormally heavy menstrual periods, vomiting of bright red or coffee-ground-like material, passing black, tarry, or bright red stools, or encountering unexplained abdominal pain, contact a healthcare provider for further management.
If having signs or symptoms of stroke, pulmonary embolism, or deep vein thrombosis, it is crucial to promptly seek medical care.
Causes
Antiphospholipid syndrome is classified as an autoimmune disorder, characterized by the production of antibodies that mistakenly target phospholipid-binding proteins within the body’s cells. The precise cause of this immune system malfunction is still uncertain, but medical experts believe it may be influenced by genetic mutations and environmental factors. An underlying condition such an autoimmune disorder can contribute to antiphospholipid syndrome. The syndrome might also appear in a patient without any underlying reason.
Risk factors
Women are more likely than men to experience antiphospholipid syndrome. The disease is more likely in people who also have an autoimmune disorder like lupus.
Antibodies associated with antiphospholipid syndrome may exist without causing any signs or symptoms. However, carrying these antibodies raises a patient’s risk of blood clots, especially if they have any of the following conditions:
- Pregnancy
- Immobility: Patients who are temporarily immobilized, such as those who are on bed rest or who are flying for a long time
- Undergo previous surgical procedures
- Having high cholesterol and triglycerides level
- Smoking habits
- Use oral contraceptives or estrogen therapy for menopause
Diagnosis
The healthcare provider can schedule blood tests to look for clotting and the presence of the antibodies linked to antiphospholipid syndrome if the patient had experienced episodes of blood clots or pregnancy loss that are unexplainable by known medical illnesses.
The presence of the antibodies in the blood must be detected at least twice, in tests done 12 weeks or more apart, to confirm a diagnosis of antiphospholipid syndrome.
Despite having antiphospholipid antibodies, a patient may not exhibit any signs or symptoms. Antiphospholipid syndrome is only diagnosed when these antibodies result in medical issues.
Treatment
The primary objective of treating antiphospholipid syndrome is to stop the occurrence of the illnesses it is causing, such as blood clots and/or miscarriages.
- Medication: A mix of blood-thinning drugs make up the standard initial treatment for patients who develop blood clots. Warfarin and heparin are the two most popular.
- IV Heparin is injected and has a quick onset of action.
- Oral Warfarin is a medication that is taken orally and takes several days to work.
- Aspirin which can help prevent blood clots, may be taken by individuals with antiphospholipid syndrome who have experienced a blood clot in an artery.
Patients are more likely to experience bleeding episodes when taking blood thinners. Blood tests will be used to monitor the dosage and ensure that the patient’s blood can clot effectively enough to stop the bleeding from cuts or bruises under the skin.
Other medications may be useful in treating antiphospholipid syndrome, according to some research. These include statins, rituximab, and hydroxychloroquine. More research is required.
- Treatment during pregnancy: If treated properly, a patient with antiphospholipid syndrome is still capable of becoming pregnant. Heparin or heparin and aspirin is typically used as a treatment. Because warfarin can harm the fetus, pregnant women are not allowed to take it.
- Enoxaparin injections and low-dose aspirin: The typical therapy for women with antiphospholipid syndrome to avoid miscarriages consists of enoxaparin injections and low-dose aspirin. The combo therapy begins early in the pregnancy and is continued in the period right after the baby is delivered.
- IV immunoglobulin infusions: IV immunoglobulin infusions may be used for recurrent miscarriage in more challenging circumstances. Immune system disorders are treated with immunoglobulin infusions.
- Corticosteroid (prednisone): Corticosteroids like prednisone or prednisolone may be used in more complex cases of recurrent miscarriage.
