Autoimmune disorders occur when the body's immune system mistakenly attacks its own healthy cells and tissues. When affecting the reproductive system, these conditions can cause inflammation or clotting that impacts fertility and pregnancy.
One of the most common reproductive-related conditions is Antiphospholipid Syndrome (APS)—also called acquired thrombophilia—an autoimmune condition in which the immune system produces antibodies that increase the likelihood of blood clot formation. APS is estimated to be responsible for 10-15% of recurrent miscarriages.
Antiphospholipid Syndrome (APS)—also called acquired thrombophilia—is an autoimmune condition in which the immune system produces antibodies that increase the likelihood of blood clot formation.
Thrombophilia is a condition in which the blood has an increased tendency clot. Antiphospholipid syndrome is diagnosed when antiphospholipid antibodies are present and the individual has experienced recurrent miscarriage, certain pregnancy complications, or a history of venous or arterial thrombosis.
Autoimmune Hypothyroidism occurs when the immune system attacks the thyroid gland and interferes with its ability to produce sufficient thyroid hormones. These hormones are important for regulating the ovarian cycle and embryo implantation.
Diagnosis: Characterized by elevated Thyroid stimulating Hormone (TSH) and low T4 levels. Thyroid peroxidase antibodies (TPO-Ab) are positive in over 90% of cases and confirm the autoimmune cause (Hashimoto’s thyroiditis).
Treatments: Treated with thyroid hormone replacement therapy. Hormone levels should be monitored closely during pregnancy.
Celiac Disease is a chronic autoimmune disorder in which the immune system reacts to gluten, potentially damaging the lining of the small intestine and causing malabsorption. Gluten is a protein found in wheat, barley, and rye. Long-term complications may include infertility.
Diagnosis: May present with gastrointestinal symptoms such as diarrhea and vomiting, but adults often experience extra-intestinal symptoms, such as anemia or eczema. Diagnosis is confirmed by testing for celiac disease antibodies.
Treatments: Managed strictly by eliminating gluten-containing foods from the diet.
Other immunological factors, such as KIR genotype, HLA-C type, NK (natural killer) cells and anti-parental antibodies have been linked to miscarriages and implantation failures. However, the current scientific evidence supporting these factors remains limited.
Hereditary thrombophilia is a genetic predisposition to increased blood clotting caused by genetic variants in proteins involved in coagulation.
As a result, thrombi can form, particularly in the legs, which can break off and cause pulmonary thromboembolism.
Pregnancy naturally induces a state of increased blood clotting in all women to prevent excessive bleeding during childbirth. In patients with thrombophilia, clots may develop in the placenta, reducing the vascularisation of the foetus and potentially causing miscarriages. There is also an increased risk of postpartum thromboembolism.
The standard diagnostic test is a blood test assessing:
However, these tests identify only about 20% of cases. More advanced genetic testing can detect up to 85% of thrombophilia cases.
Blood testing should be performed no earlier than six weeks after pregnancy.
Treatment for patients with genetic Thrombophilia is carried out on an individualized basis with Low Molecular Weight Heparin.
Congenital uterine malformations are those in which the uterus has an abnormal shape or structure. For example, a fibrous septum may divide the uterine cavity into two sections (septate uterus).
The incidence of these malformations is 0.3 % in the general population and approximately 4 % in patients with miscarriages.
Uterine abnormalities can be diagnosed using: