Antiphospholipid Syndrome, Familial
Description
The designation 'antiphospholipid syndrome' was proposed for the association of arterial and venous thrombosis, recurrent fetal loss, and immune thrombocytopenia with a spectrum of autoantibodies directed against cellular phospholipid components. Anticardiolipin antibodies may react with cardiolipin and with other negatively charged phospholipids, including beta-2-glycoprotein I (B2GPI, APOH; {138700}). The term 'lupus anticoagulant' refers to a heterogeneous group of antibodies, most commonly of the IgG type, that are detected by their inhibitory effect on coagulant-active phospholipid components of in vitro coagulation tests (summary by Matthey et al., 1989).Shoenfeld et al. (2008) noted that antiphospholipid syndrome is characterized by up to 30 different autoantibodies, including those against platelets, glycoproteins, coagulation factors, lamins, mitochondrial antigens, and cell surface markers. Some of these may have an additive effect on the prothrombotic tendency of the syndrome.Ruiz-Irastorza et al. (2010) reviewed pathophysiologic, clinical, diagnostic, and therapeutic advances related to the antiphospholipid syndrome.Various autoimmune disorders that cluster in families, including autoimmune thrombocytopenia (OMIM ), are discussed elsewhere (e.g., {109100}, {269200}).
Clinical Features
Top most frequent phenotypes and symptoms related to Antiphospholipid Syndrome, Familial
- Seizures
- Pain
- Headache
- Thrombocytopenia
- Visual loss
- Dementia
- Hepatosplenomegaly
- Arthritis
- Autoimmunity
- Retinopathy
And another 22 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Antiphospholipid Syndrome, Familial Is also known as lupus anticoagulant, familial.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
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ORPHANET OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY 36; IMD36 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG DIAMOND-BLACKFAN ANEMIA 12; DBA12 LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6 CD8 DEFICIENCY, FAMILIAL FRASER SYNDROME 2; FRASRS2