Antiphospholipid Syndrome: Symptoms, Diagnosis, Treatment, Prognosis

2024 Author: Rachel Wainwright | [email protected]. Last modified: 2023-12-15 07:39

Antiphospholipid syndrome

The content of the article:

1. Causes and risk factors
2. Forms of the disease
3. Symptoms
4. Diagnostics
5. Treatment
6. Possible complications and consequences
7. Forecast
8. Prevention

Antiphospholipid syndrome (APS) is an acquired autoimmune disease in which the immune system produces antibodies (antiphospholipid antibodies, aPL) to phospholipids of the membranes of its own cells or certain blood proteins. In this case, damage to the blood coagulation system, pathology during pregnancy and childbirth, a decrease in the number of platelets, as well as a number of neurological, skin and cardiovascular disorders are observed.

Cutaneous manifestations of antiphospholipid syndrome

The disease belongs to the thrombophilic group. This means that its main manifestation is recurrent thrombosis of various vessels.

For the first time, information on the role of specific autoantibodies in the development of disorders of the coagulation system, as well as the characteristic symptoms of the disease, was presented in 1986 by the English rheumatologist H. R. V. Hughes, and in 1994, at an international symposium in London, the term “syndrome Hughes.

The prevalence of antiphospholipid syndrome in the population is not fully understood: specific antibodies in the blood of healthy people are found, according to various sources, in 1-14% of cases (on average, 2-4%), their number increases with age, especially in the presence of chronic diseases. Nevertheless, the incidence of the disease in young people (even, rather, in children and adolescents) is significantly higher than in the elderly.

According to modern concepts, antiphospholipid antibodies are a heterogeneous group of immunoglobulins that react with negatively or neutrally charged phospholipids of various structures (for example, antibodies to cardiolipin, antibodies to beta-2-glycoprotein, lupus anticoagulant).

It was noted that women get sick 5 times more often than men, the peak falls on the middle age (about 35 years).

Synonyms: Hughes syndrome, phospholipid syndrome, antiphospholipid antibody syndrome.

Causes and risk factors

The causes of the disease have not yet been established.

It is noted that a transient increase in the level of antiphospholipid antibodies occurs against the background of certain viral and bacterial infections:

• hepatitis C;
• infections caused by the Epstein-Barr virus, human immunodeficiency virus, cytomegalovirus, parvovirus B19, adenovirus, Herpes zoster viruses, measles, rubella, influenza;
• leprosy;
• tuberculosis and diseases caused by other mycobacteria;
• salmonellosis;
• staphylococcal and streptococcal infections;
• q fever; and etc.

It is known that in patients with antiphospholipid syndrome, the incidence of various autoimmune diseases is higher than the average in the population. Based on this fact, some researchers suggest a genetic predisposition to the disease. As evidence in this case, statistical data are cited, according to which 33% of relatives of patients with APS were carriers of antiphospholipid antibodies.

Pathogenesis of antiphospholipid syndrome

Three point genetic mutations are most often mentioned in the European and American populations that may be related to the formation of the disease: Leiden mutation (mutation of factor V in blood coagulation), mutation of the prothrombin gene G20210A and defect in the 5,10-methylenetetrahydrofolate reductase C677T gene.

Forms of the disease

The following subtypes of antiphospholipid syndrome are distinguished:

• antiphospholipid syndrome (develops against the background of any disease, more often autoimmune, identified in 1985);
• primary antiphospholipid syndrome (described in 1988);
• catastrophic (CAFS, described in 1992);
• seronegative (SNAFS, separated into a separate group in 2000);
• probable APS, or pre-antiphospholipid syndrome (described in 2005).

In 2007, new varieties of the syndrome were identified:

• microangiopathic;
• recurrent catastrophic;
• cross.

In connection with other pathological conditions, antiphospholipid syndrome is classified as follows:

• primary (it is an independent disease, not associated with other pathologies);
• secondary (develops against the background of concomitant systemic lupus erythematosus or other autoimmune diseases, lupus-like syndrome, infections, malignant neoplasms, vasculitis, pharmacotherapy with certain drugs).

Symptoms

The clinical picture associated with the circulation of antiphospholipid antibodies in the systemic circulation ranges from asymptomatic carriage of antibodies to life-threatening manifestations. In fact, any organ can be involved in the clinical picture of antiphospholipid syndrome.

Antibodies are capable of adversely affecting the regulatory processes of the coagulation system, causing their pathological changes. The influence of AFL on the main stages of fetal development was also established: difficulty in implantation (fixation) of a fertilized egg in the uterine cavity, disturbances in the placental blood flow system, and the development of placental insufficiency.

Clinical manifestations of antiphospholipid syndrome

The main conditions, the appearance of which may indicate the presence of antiphospholipid syndrome:

• recurrent thrombosis (especially deep veins of the lower extremities and arteries of the brain, heart);
• repeated pulmonary embolism;
• transient ischemic disorders of cerebral circulation;
• stroke;
• episyndrome;
• choreiform hyperkinesis;
• multiple neuritis;
• migraine;
• transverse myelitis;
• sensorineural hearing loss;
• transient loss of vision;
• paresthesia (feeling of numbness, crawling creeps);
• muscle weakness;
• dizziness, headaches (up to unbearable);
• violations of the intellectual sphere;
• myocardial infarction;
• damage to the valvular apparatus of the heart;
• chronic ischemic cardiomyopathy;
• intracardiac thrombosis;
• arterial and pulmonary hypertension;
• heart attacks of the liver, spleen, intestines or gallbladder;
• pancreatitis;
• ascites;
• kidney infarction;
• acute renal failure;
• proteinuria, hematuria;
• nephrotic syndrome;
• lesion of the skin (reticular livedo - occurs in more than 20% of patients, post-thrombophlebitic ulcers, gangrene of the fingers and toes, multiple hemorrhages of varying intensity, purple toe syndrome);
• obstetric pathology, frequency of occurrence - 80% (fetal loss, more often in the II and III trimesters, late gestosis, preeclampsia and eclampsia, intrauterine growth retardation, premature birth);
• thrombocytopenia from 50 to 100 x 10 ⁹ / l.

Diagnostics

Due to the wide range of different symptoms that the disease can manifest itself, the diagnosis is often difficult.

In order to improve the accuracy of the diagnosis of antiphospholipid syndrome, classification criteria were formulated in 1999, according to which the diagnosis is considered confirmed when (at least) one clinical and one laboratory sign is combined.

Clinical criteria (based on anamnesis data) are vascular thrombosis (one or more episodes of vascular thrombosis of any caliber in any tissues or organs, and thrombosis must be confirmed instrumentally or morphologically) and pregnancy pathology (one of the listed options or their combination):

• one or more cases of intrauterine death of a normal fetus after the 10th week of pregnancy;
• one or more cases of preterm birth of a normal fetus before 34 weeks of gestation due to severe preeclampsia, or eclampsia, or severe placental insufficiency;
• three or more consecutive cases of spontaneous abortion of a normal pregnancy (in the absence of anatomical defects, hormonal disorders and chromosomal abnormalities on the part of any parent) before the 10th week of gestation.

Laboratory criteria:

• antibodies to cardiolipin IgG- or IgM-isotype, detected in serum in medium or high concentrations at least 2 times after at least 12 weeks by a standardized enzyme-linked immunosorbent assay (ELISA);
• antibodies to beta-2-glycoprotein-1 IgG- and (or) IgM-isotype, detected in serum in medium or high concentrations at least 2 times after at least 12 weeks by a standardized method (ELISA);
• lupus anticoagulant in plasma in two or more cases of research with an interval of at least 12 weeks, determined according to international recommendations.

Diagnosis of antiphospholipid syndrome includes a number of laboratory blood tests

Antiphospholipid syndrome is considered confirmed if there is one clinical and one laboratory criterion. The disease is excluded if antiphospholipid antibodies without clinical manifestations or clinical manifestations without aPL are detected for less than 12 weeks or more than 5 years.

Treatment

There are no generally accepted international standards for the treatment of the disease; drugs with immunosuppressive effects have not shown sufficient effectiveness.

Pharmacotherapy of antiphospholipid syndrome is mainly aimed at preventing thrombosis, used:

• indirect anticoagulants;
• antiplatelet agents;
• hypolipidemic agents;
• aminoquinoline preparations;
• antihypertensive drugs (if necessary).

Possible complications and consequences

The main danger for patients with antiphospholipid syndrome is thrombotic complications that unpredictably affect any organs, resulting in acute disturbances of organ blood flow.

Antiphospholipid Syndrome Leads to Miscarriage

For women of childbearing age, in addition, significant complications are:

• miscarriage;
• intrauterine fetal growth retardation as a result of impaired placental blood flow and chronic hypoxia;
• placental abruption;
• gestosis, preeclampsia, eclampsia.

Forecast

Thrombosis of arterial vessels, a high incidence of thrombotic complications and thrombocytopenia are considered as prognostically unfavorable factors in relation to mortality in APS, and the presence of lupus anticoagulant is considered as laboratory markers. The course of the disease and the severity and prevalence of thrombotic complications are unpredictable.

Prevention

It is not possible to prevent the development of the disease at the current level of development of medicine. Nevertheless, constant dispensary observation allows us to assess the risk of thrombotic complications, often prevent them and timely detect concomitant pathology.

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Olesya Smolnyakova Therapy, clinical pharmacology and pharmacotherapy About the author

Education: higher, 2004 (GOU VPO "Kursk State Medical University"), specialty "General Medicine", qualification "Doctor". 2008-2012 - Postgraduate student of the Department of Clinical Pharmacology, KSMU, Candidate of Medical Sciences (2013, specialty "Pharmacology, Clinical Pharmacology"). 2014-2015 - professional retraining, specialty "Management in education", FSBEI HPE "KSU".

The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!