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Antiphospholipid syndrome is known for causing arterial or venous blood clots, in any organ system, and pregnancy-related complications.While blood clots and pregnancy complications are the most common and diagnostic symptoms associated with APS, other organs and body parts may be affected like platelet levels, heart, kidneys, brain, and skin.
APS-1 is caused by a mutation in the AIRE gene, encoding a protein called autoimmune regulator. This is found on the 21q22.3 chromosome location, hence chromosome 21. [1] [2] [6] The AIRE gene may be affected by any of at least 186 mutations. [7] APS-1 may be inherited in an autosomal recessive manner. [8]
Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs) [3] or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group [4] of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected.
Clinically, the syndrome affects at least three organs and may affect many organ systems. The syndrome usually occurs with small vessel thromboses affecting organ systems such as the gastrointestinal tract and manifestations of the acute respiratory distress syndrome (ARDS), a type of systemic inflammatory response syndrome (SIRS). [2]
In hematology, thrombocytopenia is a condition characterized by abnormally low levels of platelets (also known as thrombocytes) in the blood. [2] Low levels of platelets in turn may lead to prolonged or excessive bleeding .
Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as APS-II, or PAS II, is the most common form of the polyglandular failure syndromes. [2] PAS II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease , type 1 diabetes , or both. [ 5 ]
Thrombocytopenia – a deficiency of platelets; Pancytopenia – when all three types of blood cells; red blood cells, white blood cells, and platelets, are all deficient. This is a life-threatening disorder that is a characteristic of aplastic anemia. [3] There are also two general causes of cytopenia: autoimmune and refractory.
APS-3: Type 1 diabetes, atrophic gastritis, pernicious anemia, vitiligo, alopecia, and myasthenia gravis, and autoimmune thyroid disease; Addison's disease and/or hypoparathyroidism are not included in this association. [4] APS-4: Combinations that weren't in the earlier groups. [4]
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