MediFind
Condition

Antiphospholipid Syndrome

Condition 101

What is the definition of Antiphospholipid Syndrome?

Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently occur in the vessels of the lower limbs. If a blood clot forms in the vessels in the brain, blood flow is impaired and can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs.Women with antiphospholipid syndrome are at increased risk of complications during pregnancy. These complications include pregnancy-induced high blood pressure (preeclampsia), an underdeveloped placenta (placental insufficiency), early delivery, or pregnancy loss (miscarriage). In addition, women with antiphospholipid syndrome are at greater risk of having a thrombosis during pregnancy than at other times during their lives. At birth, infants of mothers with antiphospholipid syndrome may be small and underweight.A thrombosis or pregnancy complication is typically the first sign of antiphospholipid syndrome. This condition usually appears in early to mid-adulthood but can begin at any age.Other signs and symptoms of antiphospholipid syndrome that affect blood cells and vessels include a reduced amount of cells involved in blood clotting called platelets (thrombocytopenia), a shortage of red blood cells (anemia) due to their premature breakdown (hemolysis), and a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. In addition, affected individuals may have open sores (ulcers) on the skin, migraine headaches, heart disease, or intellectual disability. Many people with antiphospholipid syndrome also have other autoimmune disorders such as systemic lupus erythematosus.Rarely, people with antiphospholipid syndrome develop thromboses in multiple blood vessels throughout their body. These thromboses block blood flow in affected organs, which impairs their function and ultimately causes organ failure. These individuals are said to have catastrophic antiphospholipid syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and liver, and is fatal in over half of affected individuals. Less than 1 percent of individuals with antiphospholipid syndrome develop CAPS.

What are the causes for Antiphospholipid Syndrome?

The genetic cause of antiphospholipid syndrome is unknown. This condition is associated with the presence of three abnormal immune proteins (antibodies) in the blood: lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibodies in antiphospholipid syndrome attack normal human proteins. When these antibodies attach (bind) to proteins, the proteins change shape and bind to other molecules and receptors on the surface of cells. Binding to cells, particularly immune cells, turns on (activates) the blood clotting pathway and other immune responses.The production of lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I may coincide with exposure to foreign invaders, such as viruses and bacteria, that are similar to normal human proteins. Exposure to these foreign invaders may cause the body to produce antibodies to fight the infection, but because the invaders are so similar to the body's own proteins, the antibodies also attack the human proteins. Similar triggers may occur during pregnancy when a woman's physiology, particularly her immune system, adapts to accommodate the developing fetus. These changes during pregnancy may explain the high rate of affected females.Certain genetic variations (polymorphisms) in a few genes have been found in people with antiphospholipid syndrome and may predispose individuals to produce the specific antibodies known to contribute to the formation of thromboses. However, the contribution of these genetic changes to the development of the condition is unclear.People who test positive for all three antibodies but have not had a thrombosis or recurrent miscarriages are said to be antiphospholipid carriers. These individuals are at greater risk of developing a thrombosis than is the general population.

How prevalent is Antiphospholipid Syndrome?

The exact prevalence of antiphospholipid syndrome is unknown. This condition is thought to be fairly common, and may be responsible for up to one percent of all thromboses. It is estimated that 20 percent of individuals younger than age 50 who have a stroke have antiphospholipid syndrome. Ten to 15 percent of people with systemic lupus erythematosus have antiphospholipid syndrome. Similarly, 10 to 15 percent of women with recurrent miscarriages likely have this condition. Approximately 70 percent of individuals diagnosed with antiphospholipid syndrome are female.

Is Antiphospholipid Syndrome an inherited disorder?

Most cases of antiphospholipid syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing antiphospholipid syndrome.

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Latest Research

Latest Advance
Study
  • Condition: Antiphospholipid Syndrome (APS) with Chronic Thromboembolic Pulmonary Hypertension (CTEPH) and Coronary Artery Disease
  • Journal: Journal of cardiothoracic surgery
  • Treatment Used: Pulmonary Endarterectomy (PEA) Concomitant with Coronary Artery Bypass Grafting (CABG), Anticoagulant and Antiplatelet Therapies
  • Number of Patients: 1
  • Published —
This case report describes a 39?year-old woman diagnosed with antiphospholipid syndrome (APS) with chronic thromboembolic pulmonary hypertension (CTEPH) and coronary artery disease treated with pulmonary endarterectomy (plaque removal; PEA) in tandem with coronary artery bypass grafting (CABG) and anticoagulant and antiplatelet therapies.
Latest Advance
Study
  • Condition: Cerebral Infarction in Patients with COVID-19
  • Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
  • Treatment Used: Full-Dose Anti-Coagulation and Radiological Monitoring
  • Number of Patients: 2
  • Published —
This case report describes critically ill patients with COVID-19 diagnosed with cerebral infarction treated with full-dose anti-coagulation and clinical-radiological monitoring.
Latest Advance
Study
  • Condition: Systemic Lupus Erythematosus
  • Journal: Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
  • Treatment Used: Corticosteroids
  • Number of Patients: 153
  • Published —
The study researched the treatment of arterial hypertension in systemic lupus erythematosus.
Latest Advance
Study
  • Condition: Secondary Prevention of Stillbirth in Obstetric Anti-Phospholipid Syndrome (APS)
  • Journal: Autoimmunity reviews
  • Treatment Used: Intravenous Immunoglobulin (IVIg)
  • Number of Patients: 3
  • Published —
This study evaluated the effectiveness and safety of intravenous immunoglobulin (IVIg) in the secondary prevention of pregnancy complications for patients with obstetric antiphospholipid syndrome (APS) and history of stillbirth.

Clinical Trials

Clinical Trial
Diagnostic Test
  • Status: Recruiting
  • Study Type: Diagnostic Test
  • Participants: 500
  • Start Date: September 1, 2020
Antiphospholipid Antibodies & Osteopontin as Risk Factors for Cerebrovascular Stroke in Young Adults
Clinical Trial
Other
  • Status: Recruiting
  • Participants: 5000
  • Start Date: August 4, 2020
Rheumatology Patient Registry and Biorepository
Clinical Trial
Drug
  • Status: Recruiting
  • Study Type: Drug
  • Participants: 105
  • Start Date: April 1, 2020
Dose Intralipid Infusion Reduces Pregnancy Complications Caused by Antiphospholipid Antibody Syndrome?
Clinical Trial
Drug
  • Status: Recruiting
  • Study Type: Drug
  • Participants: 156
  • Start Date: January 1, 2020
Hydroxychloroquine for Improvement of Pregnancy Outcome in Unexplained Recurrent Miscarriage