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Antiphospholipid Syndrome - Ocular Symptoms, Diagnosis, and Treatment

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Antiphospholipid syndrome is an autoimmune disorder. Ocular manifestations in such cases are important for diagnosis and understanding disease prognosis.

Medically reviewed by

Dr. Shikha Gupta

Published At February 23, 2023
Reviewed AtDecember 4, 2023

Introduction:

Autoimmune disorders are severe pathological conditions that can harm the affected person. Autoimmune disorders are characterized by situations in which the body’s defense mechanism cannot differentiate between pathogens and its cells. The condition causes damage to normal body cells.

Antiphospholipid syndrome (APS) or Hughes syndrome is a form of autoimmune disorder characterized by the formation of autoantibodies against the phospholipid-binding proteins. This is a multisystemic disorder where multiple venous and arterial thrombi form along with fetal loss. Around 17 people in 10,000 are affected by this condition, with an incidence rate of 1.1 for every 100 000 persons every year.

Deep vein thrombosis (blood clots in the veins) is the most common finding of this syndrome, predominantly seen in lower limbs and cerebral vessels. Ocular manifestations can be seen in 8% to 80 % of cases. Knowledge of the ocular findings is important as these can be helpful in the diagnosis and early detection of such conditions.

What Is Antiphospholipid Syndrome?

Antiphospholipid syndrome is associated with the presence of heterogeneous antiphospholipid antibodies. Various subtypes of these antibodies are present, among which anticardiolipin (aCL), anti‑β2 glycoprotein I (anti-β2GPI), and lupus anticoagulant (LA) antibodies are the most important. These antibodies block or disrupt various pathways of the coagulation cascade and lead to thrombus formation.

The proposed mechanism of antiphospholipid syndrome is as follows:

  • Increased oxidative stress - In patients with APS25, oxidative stress levels of oxidized β2GPI were found to be increased, increased; paraoxonase activity was decreased, 26,27; lipid peroxidation byproducts were increased.

  • Impaired function of eNOS (endothelial nitric oxide synthase) - Patients with APS had impaired endothelial nitric oxide-dependent vascular relaxation 27 and decreased plasma nitrite levels.

  • Increase in free thiol form of factor XI.

  • Antibody-mediated activation of complement C3 and C5.

These factors shift the hemostatic balance to a pro-thrombotic state (hypercoagulable state). The presence of triggering events like pregnancy use of contraceptive pills leads to thrombus formation. The exact cause of the formation of this antiphospholipid antibody is not known. But according to some researchers, alleles associated with the leukocytes antigen system (HLA) are highly involved. The identified loci associated with this are HLA-DR4 ((human leukocyte antigen- DR4), DR7, DR9, DR13, DR53, DQ6. Besides this mutation of BLK, B2GP1/APOH, GPIa/ITGA2, GPIIIa/ITGB3, and IRF5 genes are also associated with antiphospholipid syndrome.

What Are the Clinical Features?

Patients suffering from the antiphospholipid syndrome are diagnosed with multiorgan complications. Complications that can be seen in various systems are as follows:

Central Nervous System Complications:

  • Dementia (loss of memory and thinking).

  • Transverse myelitis (inflammation of both sides of the spinal cord).

  • Cerebral venous thrombosis (clot present in cerebral veins).

  • Events of cerebral ischemia and stroke (less blood supply in the brain due to blockage).

Cardiovascular Complications:

  • Coronary thrombosis (presence of clots in cardiac blood vessels).

  • Myocardial ischemia.

  • Cardiac valve lesions and dysfunction (vegetations, valve thickening).

Gastrointestinal Complications:

  • Hepatic infarcts (blockage of the blood vessels of the liver).

  • Ischaemic colitis.

  • Budd-Chiari syndrome(blockage in the hepatic vessels and large-sized liver).

Hematopoietic Complications:

  • Thrombocytopenia (low platelets count).

  • Autoimmune hemolytic anemia (autoimmune disorder causing anemia).

  • Thrombotic thrombocytopenic purpura(a condition characterized by small red spots under the skin, abdominal pain, and yellow skin).

  • Disseminated intravascular coagulation ( a blood clotting disorder characterized by internal bleeding and clots in blood vessels).

Dermatological Complications:

  • Livedo reticularis(reddish-blue discoloration of the skin with net-like patterns).

  • Chronic leg ulcers.

What Symptoms Do Patients Often Complain Of?

  • Repeated headaches and migraine-like pain in the forehead.

  • Pain in the joints and mobility problems.

  • Abdominal cramps and loss of appetite.

  • Loss of memory.

What Are the Ocular Symptoms?

Ocular complications caused by antiphospholipid syndrome can be divided into two types

Anterior Segment Findings:

  • Conjunctival telangiectasia - Small dilated blood vessels present on the conjunctiva.

  • Episcleritis - Inflammation of the outermost layer of scleral tissue.

  • Keratoconjunctivitis sicca - Dryness of conjunctiva and sclera.

  • Rubeosis irides - Neovascularization of iris.

Posterior Segment Findings:

  • Peripheral occlusive retinopathy blockage of retinal arteries.

  • Cotton wool spots are whitish, opaque, and soft spots on the retina. Occlusion of the retinal artery leads to the degradation of nerve fibers and forms these white spots.

  • Venous tortuosity.

  • Ciliochoroidal occlusion (obstruction in the space between the choroid and sclera.).

  • Choroidal neovascularization - Besides these, neuro-ophthalmic manifestations are also seen. The occlusion of blood vessels and thrombus formation causes degradation of nerve fibers and demyelination. The findings are:

  • Retrobulbar neuritis- Characterized by sudden vision loss and unilateral color vision disorder.

  • Anterior non-arterial ischemic optic neuropathy - characterized by pale papillary edema with linear hemorrhages and visual decline.

  • Orbital ischemic syndrome in catastrophic APS is an extremely rare condition in only 2% of cases. Bilateral ophthalmoparesis (abnormal horizontal eye movement), proptosis (bulging of the eyes), and increased intraocular pressure are seen in this condition.

How to Diagnose It?

The diagnosis of antiphospholipid syndrome is based on revised Sapporo criteria where at least one clinical criteria and one laboratory test finding must be present. The thromboembolic event must have occurred within five years of the laboratory testing, and the test must be repeated within twelve weeks. The diagnostic criteria are:

A. Clinical Criteria:

  • ≥1 clinical episode of thrombosis in an arterial, venous, or small vessel of any tissue or organ.

  • Thrombosis must be confirmed by appropriate imaging studies or histopathology.

  • Absence of inflammation in the vessel wall in the presence of thrombi.

B. Pregnancy Morbidity:

  • ≥1 unexplained death of a fetus at or beyond the 10th week of gestation where no morphological defect is present; fetal morphology must be normal, confirmed by ultrasound or by direct examination of the fetus.

  • ≥1 premature birth of a morphologically normal baby before the 34th week of gestation due to pregnancy complications such as eclampsia (high blood pressure during pregnancy), severe preeclampsia ( high blood pressure after 20 weeks of pregnancy in a woman), or presence of symptoms of placental insufficiency (placental vascular insufficiency).

  • ≥3 consecutive and spontaneous abortions before the 10th week of gestation without symptoms of clinical complications. Anatomic or hormonal abnormalities of the mother and chromosomal abnormalities from both parents must be excluded.

C. Laboratory Criteria:

  • Lupus anticoagulant is present in the blood, and at least two tests are positive.

  • The anticardiolipin antibody of IgG and/or IgM isotype is present in plasma. The titer level is>40 GPL or MPL.

  • Anti-β2 GPI antibodies of IgG and/or IgM isotype can be found in at least two tests 12 weeks apart, and the titer level is >99th percentile.

How to Find Ocular Changes?

Ocular changes at the early stage remain asymptomatic. Optical coherence tomography, angiography, and fluorescence angiography can be used to observe ocular changes. Findings that can be observed include:

  • Macular edema (swelling in the part of the retina).

  • Staining of the venous wall and/or leakage of the surrounding retina.

  • Choroidal filling defects.

  • Posterior pole and peripheral pigment epithelial window defect.

How to Treat It?

The most common treatment protocol followed during the treatment of this disease is anticoagulant therapy. A daily dose of Warfarin or Aspirin (325 mg/day) is given to the patients. Immunomodulatory drugs like Rituximab can also be given. Plasma exchange (plasmapheresis), thrombolytic therapy (urokinase in thrombotic microangiopathy), and recombinant tissue plasminogen activators are newer treatment modalities that many researchers advocate.

Conclusion:

Autoimmune disorders are serious threats to humanity. Early diagnosis of such cases is indeed necessary to reduce mortality and morbidity. Ocular findings can be helpful for the diagnosis of antiphospholipid syndrome at an early stage. Proper systemic medication and ocular therapy can reduce morbidity in these cases.

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Dr. Shikha Gupta
Dr. Shikha Gupta

Ophthalmology (Eye Care)

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