Introduction
The cell membranes of the human body's cells require phospholipids, a class of lipids. They are essential for preserving the shape and functionality of cell membranes, which are the barriers that divide the internal environment and exterior environment of each cell. The ability of the cell membrane to be dynamic and adaptive, which is crucial for several cellular functions, including the transport of chemicals, signal transduction, and cell identification, is made possible by the fluidity of the phospholipid bilayer. Autoimmune disorders (a condition in which the body’s own immune system attacks its healthy cells) are on the rise, attacking the human body. This phospholipid layer is not an exception to it. The phospholipid-binding proteins in cells are accidentally attacked by antibodies produced by the body, leading to the development of antiphospholipid syndrome (APS). This article discusses more about the variant of APS referred to as catastrophic antiphospholipid syndrome.
What Is Antiphospholipid Syndrome?
Antiphospholipid syndrome is a rare blood clotting autoimmune disorder with a high risk of death that might appear all at once or suddenly. An autoimmune condition called antiphospholipid syndrome (APS) is defined by consistently positive antiphospholipid antibodies (aPL) with either pregnancy morbidity or arterial or venous thromboembolism. Aside from livedo reticularis and racemose, other clinical signs of APS include thrombocytopenia (low platelet count in the blood), cognitive abnormalities (such as inability to learn, think, and remember), kidney disease, and heart valve disease (vegetation, thickness). Vascular thrombosis (blood clot formation in arteries or veins), and/or miscarriages are possible outcomes.
What Is Catastrophic Antiphospholipid Syndrome?
Rapid onset of symptoms, involvement of numerous organ systems, and thrombotic events that include major vessel and microvascular involvement are the hallmarks of catastrophic APS (CAPS), a life-threatening variant of APS. A severe clinical picture of CAPS develops in about one percent of APS patients. CAPS is the first APS manifestation in almost half of all patients with the condition. CAPS is a rare condition that affects five people per million in the general population, or one percent of people with APS.
In general, females are more susceptible to the condition than males are (about 70 percent females and 30 percent males, more evenly distributed in patients without lupus), and the age range is broad, ranging from young toddlers to older adults. Multiple thrombosis in various arterial beds during a brief (days) period defines CAPS. In contrast, APS often involves a single large-vessel thrombotic event (or a sequence of episodes spaced apart in time, such as an initial pulmonary embolus followed by a deep vein thrombosis connected with insufficient anticoagulation months later).
What Are the Clinical Manifestations of Catastrophic Antiphospholipid Syndrome?
By definition, CAPS is a diffuse, micro- or combination of micro- and macrovascular processes that affect several organs at once. Patients with CAPS can have macrovascular involvement, resulting in thrombosis affecting other organs. Patients with APS can also suffer from a stroke (blood supply interruption causing brain damage), pulmonary embolism or PE (a condition caused by blockage of one or more arteries to the lung due to blot clot formation), or kidney infarction (a condition caused by occlusion of kidney or renal artery or its branches). CAPS is distinguished from other thrombotic microangiopathies (TMAs) by its rapid onset thrombosis that causes multiple organ dysfunction syndrome, frequent association with other TMAs, evidence of systemic inflammatory response syndrome, high risk of involvement of unusual organs, and relatively high mortality rate despite optimal treatment.
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The first signs of the condition could be reduced blood flow to the fingers or toes, turning them dark blue or black.
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Swollen hands, feet, or ankles.
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Abdominal pain.
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Shortness of breath (dyspnea).
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Blood in the urine.
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Coma.
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Seizures (uncontrolled brain activity within the brain cells).
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Confusion.
Depending on which organs are affected, the early symptoms can vary greatly. The symptoms typically appear out of nowhere and worsen quickly. The clinical manifestations of CAPS include:
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Acute respiratory distress syndrome (fluid collection in air sacs causing lack of oxygen to other organs).
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Mitral and/or aortic valve disease (heart valve disease).
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Myocardial infarction (blood flow blockage to heart muscles).
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Livedo reticularis/racemosa (cutaneous physical sign or symptom due to blood flow disturbance).
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Purpura (blood leakage from small blood vessels under the skin).
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Subungual hemorrhage (nail bed injuries causing bleeding under the nails).
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Skin necrosis (cell death in the body tissues or skin).
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Hypertension (high blood pressure).
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Proteinuria (high protein levels in urine).
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Hematuria (blood in urine).
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Acute ischemic encephalopathy with confusion (a brain dysfunction).
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Seizures.
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Unexplained miscarriages.
How Is Catastrophic Antiphospholipid Syndrome Diagnosed?
Rapidly progressing disease, multiorgan involvement, and large vessel and microvascular thrombosis are significant signs that a patient may have CAPS rather than APS or another thrombotic disorder. Antiphospholipid antibodies (aPL) can be found in the blood by a process known as aPL testing, a laboratory test. Antiphospholipid syndrome is normally diagnosed if a person tests positive for aPL antibodies on two or more occasions at least 12 weeks apart and if there is evidence of clinical symptoms like thrombosis or pregnancy difficulties. aPL testing is performed for three antibodies: anticardiolipin antibodies, anti-beta2GPI antibodies, and lupus anticoagulant (LA) assay.
Clinical findings of a large vessel or microvascular thrombosis or other manifestations, history of APS, systemic lupus erythematosus, metabolic function tests to evaluate liver or kidney injury, or other complications such as adrenal insufficiency are the additional evaluations performed. Pregnancy testing is also performed to determine potential CAPS triggers or a potential pregnancy-associated condition.
How Can Catastrophic Antiphospholipid Syndrome Be Treated?
Anticoagulants, glucocorticoids, therapeutic plasma exchange (TPE), or intravenous immune globulin (IVIG), together known as triple therapy, are frequently used to treat CAPS. Therapeutic plasma exchange (TPE), sometimes called plasmapheresis, is a medical technique that involves taking and replenishing plasma from a patient. To maintain the proper blood volume and prevent low blood pressure, the patient receives a replacement fluid, such as an albumin solution or freshly frozen plasma, after the plasma has been withdrawn. The therapeutic impact is made possible by the replacement fluid's absence of the particular components or antibodies taken out. Intravenous immune globulin (IVIG) is derived from human plasma and has a high antibody content. The blood plasma of numerous healthy donors is gathered to create IVIG. IVIG is typically delivered intravenously in a hospital or outpatient setting. An interdisciplinary treatment plan is suggested since high mortality and morbidity are linked to CAPS. Multidisciplinary care may include involvement of hematology, rheumatology, nephrology, infectious disease, the intensive care team, and obstetrics when relevant.
Conclusion
CAPS is the most severe variant of APS with multiple organ thromboses, usually accompanied by micro thrombosis and hematologic manifestations. A high degree of clinical suspicion is necessary because the clinical signs of CAPS frequently overlap with those of other thrombotic microangiopathies and can develop gradually. Rapid onset of CAPS necessitates immediate medical attention, such as immunosuppression and anticoagulant treatment. Effective management and prompt diagnosis are essential for enhancing results. Although CAPS is still a complex and potentially fatal syndrome, advances in medical knowledge and treatment methods give hope for a better outlook and higher survival rates for those affected
