Antiphospholipid syndrome — Know It All!

Editorial

All you need to know about Hughes syndrome.

Know your ailment well, so you can manage it better!!

Here we come with Antiphospholipid antibody syndrome today!

What is Antiphospholipid Syndrome?

Antiphospholipid syndrome is also known as Hughes syndrome and Antiphospholipid antibody syndrome.

APS is an infectious disease that can cause regular clotting and/or miscarriages in arteries and veins. The clotting occurs from the involvement of proteins produced against the person’s own tissues in the blood called anti-phospholipid autoantibodies (commonly called aPL). Such autoantibodies impact the normal coagulation process, contributing to increased development of clots or thrombosis (in which blood flow stops due to a clot).

Based on the site of the clot, the harm caused by this clotting can vary. For example, frequent small heart clots may cause thickening or damage to the heart valve, with the possibility of releasing clots into the blood (called an arterial embolism). Autoantibodies (aPL) in young adults without any known cardiac risk factors can also be linked with heart attacks. Blood clots in the heart artery can lead to heart attacks, while strokes can occur from blood clots in the brain arteries. Anywhere in the bloodstream, blood clots from aPL can occur and can affect any organ in the body.

In the lower legs, clots that form in the veins most commonly occur. Blood clots in the veins of the leg will break off and pass to the lung, causing pulmonary embolism to be a very dangerous disease. Pulmonary embolism prevents the influx of blood into the lungs and lowers the amount of oxygen in the blood.

Repeated thrombotic events can occur in a few cases within a short period of time, leading to progressive damage to multiple organs. This life-threatening and acute condition is known as devastating APS. Other problems can occur in patients with APS, including low platelet count, mottled purple skin discolouration (livedo reticularis) and skin ulcerations.

APL can lead to early and late miscarriages and pre-eclampsia in pregnant women (high blood pressure and protein in the urine during pregnancy). It was originally proposed that aPL was responsible for clots in the blood vessels of the placenta, triggering retardation of foetal development. APL may also attack placental tissues directly, preventing their growth and development.

What are the causes of Antiphospholipid syndrome?

It’s not fully understood when patients produce anti-phospholipid autoantibodies (aPL). An environmental cause is likely to activate the development of these autoantibodies, such as an illness that arises in a person with a genetic history that makes him or her more vulnerable to the disease.

For a long time, the aPL can be found in the bloodstream, but thrombotic events result only rarely. The risk of blood clotting is raised by aPL, but thrombosis typically happens when there are other factors that favour clotting, such as excessive inactivity (e.g. bedtime), surgery, or maternity. Hypertension, obesity, alcohol, atherosclerosis (hardening of the arteries), hormone utilisation (birth control pills), and related chronic autoimmune disorders are additional risk factors for thrombosis (mainly SLE or SLE-like diseases).

What are the symptoms of Antiphospholipid syndrome?

Signs and symptoms of the antiphospholipid syndrome can include:

  • Blood clots in your legs (DVT). Signs of a DVT include pain, swelling and redness. These clots can travel to your lungs (pulmonary embolism).
  • Repeated miscarriages or stillbirths. Other complications of pregnancy include dangerously high blood pressure (preeclampsia) and premature delivery.
  • Stroke. A stroke can occur in a young person who has antiphospholipid syndrome but no known risk factors for cardiovascular diseases.
  • Transient ischemic attack (TIA). Similar to a stroke, a TIA usually lasts only a few minutes and causes no permanent damage.
  • Rash. Some people develop a red rash with a lacy, net-like pattern.

Less common signs and symptoms include:

  • Neurological symptoms. Chronic headaches, including migraines; dementia and seizures are possible when a blood clot blocks blood flow to parts of your brain.
  • Cardiovascular disease. Antiphospholipid syndrome can damage heart valves.
  • Bleeding. Some people have a decrease in blood cells needed for clotting. This can cause episodes of bleeding, particularly from your nose and gums. You can also bleed into your skin, which will appear as patches of small red spots

What are the risk factors of Antiphospholipid syndrome?

Antiphospholipid syndrome risk factors include:

Gender.

In women, this disease is much more frequent than in males.

Disorders of the immune system.

Your risk of antiphospholipid syndrome is raised by developing another autoimmune disease, such as lupus or Sjogren’s syndrome.

With Infections.

With Infections. In persons that have such diseases, such as syphilis, HIV/AIDS, hepatitis C or Lyme disease, this syndrome is more frequent.

Medications.

Certain medications have been linked to antiphospholipid syndrome. They include hydralazine for high blood pressure, the heart rhythm-regulating medication quinidine, the anti-seizure medication phenytoin (Dilantin) and the antibiotic amoxicillin.

Family history.

In households, this condition runs in genes.

Without developing signs or symptoms, the antibodies associated with the antiphospholipid syndrome may be present. Getting these antibodies, however, raises the risk of forming blood clots, particularly if:

Being pregnant

Become pregnant

Are immobile for a time, such as being on bed rest or sitting during a long flight

Have surgery

Smoke cigarettes

Take oral contraceptives or estrogen therapy for menopause

Have high cholesterol and triglycerides levels

What are the complications of Antiphospholipid syndrome?

Untreated antiphospholipid syndrome can lead to permanent organ injury or death, depending on which organ is damaged by a blood clot and how severe the disruption of blood flow to that organ is. Complications involve:

  • Kidney failure. This can result from decreased blood flow to your kidneys.
  • Stroke. Decreased blood flow to a part of your brain can cause a stroke, which can result in permanent neurological damage, such as partial paralysis and loss of speech.
  • Cardiovascular problems.The valves in the veins that hold blood circulating to your heart may be impaired by a blood clot in your leg. In the lower legs, which will result in persistent swelling and decoloration. Heart injury is another potential complication.
  • Lung problems. These can include high blood pressure in your lungs and pulmonary embolism.
  • Pregnancy complications. These can include miscarriages, stillbirths, premature delivery, slow fetal growth and dangerously high blood pressure during pregnancy (preeclampsia).

Rarely, a person can have repeated clotting events in a short time, leading to progressive damage in multiple organs

How is Antiphospholipid syndrome diagnosed?

Based on your medical records and the results of blood testing, the doctor will diagnose antiphospholipid antibody syndrome (APS).

Involved Experts

In the diagnosis of patients that have APS, a haematologist is also involved. This is a doctor who specialises in the prevention and diagnosis of illnesses and conditions in the blood.

You may have APS, such as lupus, and another autoimmune disease. If so, care can also be given by a specialist who specialises in that condition.

The limbs, bones, or muscles are also affected by many autoimmune diseases that happen in APS. In treating these kinds of diseases, rheumatologists specialise.

Medical History

Few persons have APS antibodies, but there are no signs of the disease or symptoms. Having antibodies to APS doesn’t mean you’ve got APS. You may have APS antibodies and a history of health issues associated with the condition to be diagnosed with APS.

Many health complications, including stroke, heart attack, kidney injury, deep vein thrombosis, and pulmonary embolism, may be caused by APS.

APS may also cause complications related to breastfeeding, such as multiple miscarriages, a late pregnancy abortion, or early delivery due to eclampsia. (A dangerous disease that induces seizures in pregnant women is eclampsia, which follows preeclampsia.)

Blood Tests

Your doctor can use blood tests to ensure that there is an APS diagnosis. These studies measure any of the three APS antibodies in your blood: anticardiolipin, beta-2 glycoprotein I (β2GPI), and anticoagulant lupus.

A material that inhibits blood clotting is referred to by the word ‘anticoagulant’.It may seem strange that the lupus anticoagulant is one of the APS antibodies. The explanation for this is that, in laboratory experiments, the antibody slows clotting. However, it raises the danger of blood clotting in the human body.

A tiny blood sample is taken to screen for APS antibodies. It is also drawn with a needle out of a vein in your arm. Typically, the treatment is fast and simple, although it can cause some short-term pain and a minor bruise.

To validate positive outcomes, you might require a second blood test. This is because it will occur from a short-term infection with a single positive test. The second blood test is mostly administered at least 12 weeks after the first one.

What is the treatment for Antiphospholipid syndrome?

Very commonly, during a clotting incident or repeated miscarriages, anti-phospholipid antibodies are identified. The primary purpose of treatment is, however, to avoid recurrences, since the presence of the antibodies places the patient at high risk of further episodes.

Vascular events

Anticoagulants (blood thinners) are administered with acute thrombotic cases, first with intravenous heparin and later with oral warfarin (Coumadin). Some patients often receive compounds that remove clots rapidly in acute cases.

Oral anticoagulation is required in patients with aPL to prevent recurrences of venous blood clots, likely over a number of years. Recurrences are often avoided for medications that block platelets, such as aspirin and clopidogrel, for arterial events (Plavix).

Pregnancy-related events

The standard treatment to avoid miscarriages is subcutaneous (under the skin) injections of heparin and low-dose aspirin. At the outset of the pregnancy, the treatment begins and ends in the time shortly following birth. In most cases, this preventive approach has been proven to be effective in the delivery of stable infants. Additional therapies such as intravenous (inside vein) immunoglobulin infusions and corticosteroid administration (prednisone) — aid in more challenging cases.

Because of the elevated risk of blood clots, pregnant women who had prior blood clots could undergo the same mixture of heparin and low-dose aspirin — but with higher doses of heparin. Heparin and aspirin treatment have been found to be effective for both the mother and the infant. The need for preventive treatment must be assessed on a case-by-case basis where antibodies are found in patients with no previous thrombotic symptoms or miscarriages. However, it is widely agreed that if no additional risk factors for clotting or underlying chronic autoimmune disease (e.g. lupus) are present, medication is not required.

References:

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https://www.mayoclinic.org/diseases-conditions/antiphospholipid-syndrome/symptoms-causes/syc-20355831

https://www.webmd.com/dvt/what-is-antiphospholipid-syndrome

https://emedicine.medscape.com/article/333221-overview

https://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Antiphospholipid-Syndrome

https://www.nhlbi.nih.gov/health-topics/antiphospholipid-antibody-syndrome

https://rarediseases.info.nih.gov/diseases/5824/antiphospholipid-syndrome