Antiphospholipid syndrome – symptoms, treatment. Catastrophic antiphospholipid syndrome

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Antiphospholipid syndrome (APS) is a quite mysterious disease, the medical history of which began only in the 80s. It is a disease of young people, in which, due to increased blood clotting, blood clots occur in various types of blood vessels, which can lead to life-threatening conditions such as heart attack, stroke and pulmonary embolism.

Antiphospholipid syndrome – characteristics

Antiphospholipid syndrome (APS) is an autoimmune disease, the symptom of which is, among others, the presence of an episode of venous thromboembolism or arterial thrombosis and obstetric problems. It was first described by Hughes in 1986 and Harris the following year. The etiology of the disease is still unknown. Some researchers argue that the pathogenesis of the syndrome presupposes that autoimmune processes arise in patients with a genetic predisposition to viral, bacterial, or parasitic antigens.

Hughes and Harris are the authors of the name “antiphospholipid.” Scientists were the first to distinguish the disease classification criteria: venous arterial thrombosis, at least two miscarriage episodes, thrombocytopenia, the presence of lupus anticoagulant or plasma anticardiolipin antibodies. These are the main symptoms of the disease, but since scientists first described the disease, more and more causes have been discovered.

Antiphospholipid syndrome – symptoms

More than half of people diagnosed with antiphospholipid syndrome have venous thromboembolism. This condition is characterized by the occurrence of deep vein thrombosis and pulmonary embolism. The diseased limb, affected by vein thrombosis, begins to hurt and appears swollen. Additional symptoms include dyspnoea, hemoptysis and chest pain. Sometimes the patient develops hypoxia.

In the case of the antiphospholipid syndrome, thrombosis most often occurs in atypical places, e.g. in the veins of the upper limbs. Moreover, the symptom of this disease is the young age of the patient. In addition to the aforementioned ailments, there are also:

1. headaches,
2. migraine,
3. epileptic seizures,
4. Guillain-Barry Syndrome,
5. hypertension,
6. valvular changes,
7. pulmonary hypertension (due to complications of thromboembolism),
8. interstitial kidney changes,
9. the occurrence of anxiety and depression,
10. monocular (transient) vision,
11. arterial thrombosis
12. retinal vein thrombosis,
13. thrombocytopenia,
14. autoimmune haemolytic anemia.

Antiphospholipid syndrome – treatment

The diagnosis of the antiphospholipid syndrome is often delayed due to its rich symptomatology. There is still no systematic treatment of the disease in various specialties – this also delays the start of the treatment process. How to treat the antiphospholipid syndrome and how long the whole process is supposed to take depends on many factors. Consideration should be given, inter alia, to the extent and location of thrombosis, risk of bleeding complications and comorbidities.

The main goal of therapy is to treat thrombosis. Doctors mainly use low molecular weight heparin and acetylsalicylic acid. Heparin has anti-inflammatory properties and prevents leukocytes from sticking to the tissues, otherwise the tissues will be destroyed. Due to unfractionated heparin, cell adhesion caused by P-selectin and L-selectin is blocked.

Thanks to heparins, the production of inflammatory mediators is inhibited. Moreover, the substance also increases the activity and the ability to invade cells of the extracavicular trophoblast. The effectiveness of heparins in the treatment of the antiphospholipid syndrome is due to the fact that they influence the adherence of the blastocyst to the endometrial epithelium – as a result, the interaction between them is affected. Heparin, which has been scientifically confirmed, also inhibit the process of complement activation.

The process of treating the disease is different in pregnant women and in postpartum patients. However, in this and other cases, anticoagulation treatment of people with antiphospholipid syndrome still presents many difficulties. Treatment with low molecular weight heparins is also risky as the result may be the development of thrombocytopenia and osteoporosis.

Other Treatments for Antiphospholipid Syndrome

There is no one and only way to treat a medical condition. The pathogenesis of the antiphospholipid syndrome is complex, so doctors sometimes use drugs that affect the thrombotic process – the disease involves activation of the endothelium, platelet coagulation and complement activation. Moreover, research into therapeutic options for the treatment of APS is still ongoing and it is probably only a matter of time before the next treatment options are presented.

One of the medications used in other treatments for APS is an antimalarial because it has anticoagulant and immunomodulatory effects. In addition, it reduces the risk of cardiovascular complications in the course of the disease. The drug inhibits APL-induced platelet activation. In patients with systemic lupus, hydroxychloroquine is sometimes used because it does not cause bleeding.

Another therapeutic method is complement blocking – for this purpose, the patient is given eculizumab, i.e. monoclonal antibodies that fight the C5 component of complement. The drug makes it possible to inhibit the synthesis of a complex that affects the C5b-9 membrane and is used in the treatment of atypical aHUS.

Catastrophic antiphospholipid syndrome

Catastrophic antiphospholipid syndrome (CAPS) is a type of antiphospholipid syndrome that develops faster than normal antiphospholipid syndrome and often has symptoms that can be fatal. The disease was first identified in 1992, when the term “catastrophic” was added and was first described by Ronald A. Asherson. Unlike APS patients, CAPS patients often have multiple organs involved.

Catastrophic antiphospholipid syndrome develops in less than 1% of patients with antiphospholipid syndrome. Due to the fact that the disease can lead to death, in most cases patients are treated in intensive care units, as many of their organs are ineffective. The disease should be considered in the differential diagnosis, otherwise the consequences can be dire.

Doctors have still not found an answer to the question of why some patients develop recurrent large vessel thrombosis. On the other hand, other patients experience recurrence of mainly small vessel occlusion episodes. There is a thesis that the cause of thrombosis is sitting for too long, diabetes, obesity and nephrotic syndrome – yet they are not part of the pathogenesis of catastrophic phospholipid syndrome.

Symptoms of a catastrophic antiphospholipid syndrome

In most cases, women with an average age of 37 suffer from CRS. About half of the patients had a previous history of primary APS, lupus erythematosus, and 5% had lupus-like disease. Among the patients, there is also a group of people who already had autoimmune diseases. CAPS also develops in patients without thrombosis.

The development of the symptoms of the disease depends on the organs in which the thrombotic complication occurs and the size of the thrombosis. The clinical symptoms of CAPS are also influenced by SIRS (systematic inflammatory response syndrome), often caused by the release of cytokines from previously occupied or necrotic tissues. Therefore, doctors treat patients with standard APS differently than those with CAPS.

The most common symptoms of the disease are thrombotic complications affecting the kidneys, adrenal glands and the vascularization of the spleen, intestines, pancreas or mesentery. Patients often appear to have abdominal pain, but these complications occur within the abdominal cavity. Secondly, the most common symptom is pulmonary complications, e.g. pulmonary congestion, acute respiratory distress syndrome.

Other symptoms of catastrophic antiphospholipid syndrome are ischemic strokes, seizures, and occlusion of the cerebral veins. More than half of the patients suffer from cardiac complications, valve defects and in 25% of cases myocardial infarction. In addition, many patients also have skin complications, such as skin purpura and skin necrosis.

Treatment of catastrophic antiphospholipid syndrome

Catastrophic antiphospholipid treatment syndrome can be fatal, so it is extremely important to diagnose the disease early and start therapy as early as possible. Unfortunately, the mortality rate is as high as 30%. Doctors still don’t know why APS patients have recurring episodes and multiple organ failure. The therapy consists of three parts – preventive treatment, specific treatment and non-specific treatment.

Patients are first given heparin, a substance which is the main element of therapeutic therapy. Heparin is produced in mast cells and is responsible for preventing blood clotting, especially when prothrombin is converted to thrombin. CAPS researchers found that patients treated with anticoagulants died less frequently than those who did not receive heparin.