Genetics of Antiphospholipid Syndrome
Antiphospholipid syndrome is a disorder in which a variety of problems along with clotting within the veins or arteries occurs. These clots can occur anywhere in the body. With this disorder the immune system produces antibodies mistakenly to certain blood proteins. It is estimated that these mistakenly-produced antibodies are found in about one to five percent of healthy people. In patients with systemic lupus erythematosus (SLE), it is estimated that about 30 percent have this antibody.
Genetics
No specific gene or inheritance pattern has been linked to the genetics of antiphospholipid syndrome. However, it has been identified that this disorder has occurred in several members of the same family. Studies performed in 1999 showed possible codominant and dominant inheritance patterns in 30 out of 101 members who had this disorder, according to the National Human Genome Research Institute.
Symptoms
Where the clots initially form and where they travel to will determine the symptoms a patient experiences. A clot that is forming or traveling may cause:
- Pulmonary embolism
- Stroke
- Deep vein thrombosis
- Pregnancy-related complications (such as premature delivery, miscarriage, preeclampsia, and stillbirth)
- Neurological symptoms (such as chronic headaches, seizures, dementia, and migraines)
- Rash
- Bleeding
- Sudden hearing loss
- Cardiovascular disease
- Chorea (a movement disorder)
- Mental health problems
- Cognitive problems
- Thrombocytopenia
- Skin disorders (such as necrosis, livedo reticularis, and ulcers)
- Autoimmune disorders (such as lupus, myasthenia gravis, autoimmune hemolytic anemia, Graves’ disease, and Evan’s syndrome)
- Heart valve disease
- Kidney failure
- Lung problems
Diagnosis
There is a blood test that can be performed to determine if a patient has the antibodies associated with this disorder. These antibodies must be present in the patient’s blood at least two times in tests that are performed twelve weeks apart. If a patient has experienced pregnancy loss or thrombosis, her doctor may test for this disorder.
Treatment
Medications are typically used to decrease a patient’s chance of developing a blood clot. If thrombosis is present, the patient will typically be treated with heparin initially and then warfarin, and possibly low-dose aspirin for the duration of the patient’s life.
If the patient is pregnant, therapy becomes complex. Regular injections of anticoagulant medication, also known as anticoagulation therapy, may be done. However, this carries significant side effects and risks. Heparin works quickly to bust up blood clots and it is technically safe during pregnancy. Warfarin is rarely prescribed to a pregnant woman, though, it is easier to administer becomes it comes in pill form where heparin can only be injected. However, warfarin has the chance, though rare, of causing birth defects so it is not commonly used.
Resources
National Human Genome Research Institute. (2010). Learning About Antiphospholipid Syndrome (APS). Retrieved on October 25, 2010 from the National Human Genome Research Institute: https://www.genome.gov/17516396
MayoClinic.com. (2009). Antiphospholipid Syndrome. Retrieved on September 16, 2010 from MayoClinic.com: https://www.mayoclinic.com/health/antiphospholipid-syndrome/DS00921
