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Antiphospholipid Syndrome

Anti Phospholipid Syndrome

Antiphospholipid syndrome is an autoimmune disease that is characterized by the presence of several antiphospholipid autoantibody types. The clinical presentation involves thromboembolic events affecting vessels of all sizes, ultimately predisposing the patient to malignant hypertension and life-threatening vascular insults in the kidneys, the brain, the lungs, and several other organs. In severe cases, multiorgan failure is seen, with mortality rates of 50%. Thus, an early diagnosis is mandatory. The criteria consist of pregnancy-related events, laboratory confirmation of autoantibodies, and signs of blood vessel abnormalities.


Presentation

Antiphospholipid syndrome is a still incompletely understood autoimmune disorder that possesses a highly variable clinical presentation, as virtually any organ or part of the body may be affected by the vascular pathological changes that occur [1]. The symptoms stem from two events - formation of venous (or sometimes arterial) thrombosis and thrombotic microangiopathy (TMA) [1] [2] [3]. Venous thrombosis of the lower extremities is regarded as a frequent finding in patients with antiphospholipid syndrome, whereas pulmonary embolism (developing either from distal thrombi or cardiac valve vegetations) can appear in up to 50% of cases [1]. In addition to the lower extremities, thrombotic changes often affect the subclavian, retinal, and renal arteries [1]. In fact, the kidneys are the primary site where both thrombotic and TMA-related effects of antiphospholipid syndrome are exerted [1] [2]. Occlusion of both larger and smaller renal vessels leads to profound hypertension, proteinuria, and renal insufficiency that presents with anuria [1]. Apart from the kidneys, other organs that are prone to damage are the brain, the heart, the lungs, and the skin [1] [4]. The term "catastrophic antiphospholipid syndrome" is used to describe patients who suffer from life-threatening forms of this disease [1] [5]. Hypertension, hemolytic anemia, disseminated intravascular coagulation (DIC), microthrombotic events involving the heart and the brain, as well as adult respiratory distress syndrome (ARDS), are hallmarks of catastrophic antiphospholipid syndrome, which carries a mortality rate of 50% [1] [4] [5].

Plethora
  • […] result of a complex interaction between traditional CV risk factors, immune deregulation and disease activity, including the synergic effect of cytokines, chemokines, adipokines, proteases, autoantibodies, adhesion receptors, oxidative stress and a plethora[ncbi.nlm.nih.gov]
  • Laboratory diagnosis of the antiphospholipid syndrome: a plethora of obstacles to overcome. Eur J Haematol 2009 ; 83 : 1 -16. Pierangeli SS , Harris EN. A protocol for determination of anticardiolipin antibodies by ELISA.[clinchem.aaccjnls.org]
Difficulty Walking
  • Some individuals have reported symptoms that resemble multiple sclerosis including numbness or a sensation of pins and needles, vision abnormalities such as double vision, and difficulty walking, but it is not known if these problems are related to APS[rarediseases.org]
Sputum
  • Sputum and bronchoalveolar lavage studies were negative for infectious aetiologies.[ncbi.nlm.nih.gov]
Nasal Ulcer
  • We successively excluded patients with (1) at least one "SLE-specific" manifestation (biopsy-proven SLE nephropathy, arthritis, cutaneous, or neurologic SLE manifestations, pericarditis, autoimmune haemolytic anaemia, oral and nasal ulcers, non-scarring[ncbi.nlm.nih.gov]
Periodontitis
  • This report describes the dental treatment of 2 women with APS and multiple dental concerns, including periodontal disease, caries, and missing teeth.[ncbi.nlm.nih.gov]
Ulcer
  • CASE SUMMARY: A 50-year-old woman with the antiphospholipid syndrome, manifesting clinically with recurrent pyoderma gangrenosum-like leg ulcers, was treated with apixaban, resulting in improved ulcer healing.[ncbi.nlm.nih.gov]
  • Skin ulcerations correlated with positive titres aCL IgM and ß2 GPI IgM (p 0.03 and 0.04, respectively), while pseudovasculitis correlated with positive titres ß2 GPI IgM (p 0.02).[ncbi.nlm.nih.gov]
  • We report a case of APS manifesting as cutaneous ulceration and necrosis in a patient with severe RA.[ncbi.nlm.nih.gov]
  • METHODS: A 14-year old boy presented with worsening right lower extremity pain and ulcerative lesions of his foot. Laboratory analysis revealed a diagnosis of APS.[ncbi.nlm.nih.gov]
Headache
  • KEYWORDS: antiphospholipid antibody syndrome; cerebral venous thrombosis; headache; tadalafil[ncbi.nlm.nih.gov]
  • In addition to the classic stroke features of APS, however, there are numerous recently described "non-criteria" neurological conditions such as headaches, seizures, and cognitive impairment.[ncbi.nlm.nih.gov]
  • Abstract A woman aged 26 years was referred by her GP to the eye casualty department with sudden-onset left homonymous hemianopia and right-sided headache.[ncbi.nlm.nih.gov]
  • Recently, however, even more disease states have been linked with APL including premature heart attack, migraine headaches, various cardiac valvular abnormalities, skin lesions, abnormal movement/chorea, diseases that mimic multiple sclerosis, vascular[apsfa.org]
  • Three weeks after admission, the patient complained of headache and double vision. Neurologic examination revealed new horizontal diplopia, partial right sixth nerve palsy, and bilateral ptosis.[ajnr.org]
Learning Difficulties
  • Family dependence was observed in 14 (40%), memory loss in 12 (34.3%), social losses in 12 (34.3%), sexual limitations in seven (20%), sadness in six (17.1%), severe speech limitation in four (11.4%), anxiety in three (8.6%), learning difficulty in two[ncbi.nlm.nih.gov]

Workup

The recognition of antiphospholipid syndrome rests on a thorough clinical and laboratory assessment and the diagnostic criteria are comprised of the following:

  • Clinical criteria - Pregnancy-related events that raise suspicion toward antiphospholipid syndrome are death of previously healthy fetuses after the 10th week of gestation, premature births due to eclampsia, pre-eclampsia, or insufficiency of the placenta, or unexplained spontaneous abortions before the 10th week of gestation [2] [3] [6] [7]. For this reason, it is imperative for physicians to obtain a detailed history that will reveal these findings. Confirmation of vascular thrombosis in any organ, regardless of vessel size, is the second clinical criteria [2] [3] [6] [7].
  • Laboratory criteria - Detection of either lupus anticoagulant (LA), immunoglobulin (Ig) M or IgG anticardiolipin antibodies, or IgM or IgG anti-β2-glycoprotein-1 antibodies on two separate tests that are done 12 weeks apart using standard methods is crucial for identifying antiphospholipid syndrome [2] [3] [6] [7]. Values of anticardiolipin and anti-β2-glycoprotein-1 antibodies should be greater than the 99th percentile [2] [6]. Values of LA may not be accurate in the presence of antithrombic drugs, which implies that their use should be temporarily stopped for proper testing [2].

Although nephropathy, thrombocytopenia, and valvular heart disease are notable findings in these patients, at least one clinical and one laboratory criteria are needed in order to make the diagnosis of the antiphospholipid syndrome [2] [3] [7].

Treatment

  • Current treatment is mainly based on aspirin and heparin. Studies to inform on alternative treatment options are urgently needed.[ncbi.nlm.nih.gov]
  • Nevertheless, this tool is a late indicator to suggest any additional treatments.[ncbi.nlm.nih.gov]
  • Treatment consists of oral anticoagulant, antiplatelet, and/or immunosuppressant drugs. This report describes the dental treatment of 2 women with APS and multiple dental concerns, including periodontal disease, caries, and missing teeth.[ncbi.nlm.nih.gov]
  • Treatment of the acute emergency requires anticoagulation, suppression of the hyperinflammatory state and elimination of the triggering infection.[ncbi.nlm.nih.gov]
  • In these patients with non-criteria, there is controversy about their inclusion within the spectrum of APS and eventually their treatment as having Obs-APS.[ncbi.nlm.nih.gov]

Prognosis

  • The aim of this review article is to update on the medical care of pregnancy in these women to ensure the best maternal and fetal prognosis. Copyright 2017 Elsevier Ltd. All rights reserved.[ncbi.nlm.nih.gov]
  • Despite the great progresses made in understanding the pathological mechanisms leading to CV diseases in those pathologies, there is still the unmet need to improve long term prognosis.[ncbi.nlm.nih.gov]
  • This rare etiology is associated with a poor prognosis when late diagnosed. Owing to the high associated mortality, early diagnosis and prompt treatment are necessary.[ncbi.nlm.nih.gov]
  • Triple positivity (TP) for antiphospholipid antibodies(aPL) may identify aPL carriers with poorer prognosis.[ncbi.nlm.nih.gov]
  • Prognosis [ 15 ] The severity of the problem varies considerably and prognosis is therefore very variable. It can cause catastrophic and potentially lethal problems like massive pulmonary embolism, stroke and myocardial infarction.[patient.info]

Etiology

  • KEYWORDS: Antiphospholipid syndrome/complications; disease progression; endocarditis/etiology/pathology/surgery; heart valve prosthesis; lupus erythematosus, systemic/complications; treatment outcome; tricuspid valve insufficiency/etiology/surgery[ncbi.nlm.nih.gov]
  • Other etiologies should be sought including CRVO secondary to antiphospholipid syndrome (APS). This rare etiology is associated with a poor prognosis when late diagnosed.[ncbi.nlm.nih.gov]
  • The only etiological explanation was the late measurement and the positive tests for antiphospholipid antibodies.[ncbi.nlm.nih.gov]
  • Extensive evaluation by the pediatrics and rheumatology services led to a diagnosis of primary antiphospholipid syndrome as the etiology for the occlusions.[ncbi.nlm.nih.gov]
  • Based on past reports, we considered the relationship among TA, APS, and CD.Clinicians should bear in mind that many etiologies can exist in 1 patient, and differential diagnoses are essential.[ncbi.nlm.nih.gov]

Epidemiology

  • Links: aetiology epidemiology clinical features detection of lupus coagulant detection of anticardiolipin antibodies diagnostic criteria definitive diagnosis of antiphospholipid syndrome treatment prognosis antiphospholipid antibodies catastrophic antiphospholipid[gpnotebook.co.uk]
  • Thrombosis in the young: epidemiology and risk factors: a focus on venous thrombosis. Thromb Haemost 1997 ; 78: 1 – 6. Google Scholar Medline ISI 9. Roubey, RA.[doi.org]
  • Université René Descartes Paris V, Centre de référence maladies auto-immunes et systémiques rares, Service de médecine interne Pôle médecine, Hôpital Cochin, AP-HP, 27 rue du Faubourg Saint Jacques, 75679 Paris cedex 14, France; INSERM U 1153, Center for Epidemiology[ncbi.nlm.nih.gov]
  • This Primer provides an update on the epidemiology, pathogenesis, diagnosis and therapeutic aspects and offers an outlook on future research topics.[nature.com]
  • Introduction Clinical definition an autoimmune disorder, often associated with systemic lupus erythematosus (SLE), characterized by thromboses and recurrent spontaneous abortions Epidemiology incidence increases with age demographics female male affects[step2.medbullets.com]
Sex distribution
Age distribution

Pathophysiology

  • The goal of this review is to update clinicians and scientists on mechanistic and clinically relevant studies from the past 18 months, which have especially focused on inflammatory aspects of APS pathophysiology.[ncbi.nlm.nih.gov]
  • OBJECTIVE: The antiphospholipid syndrome (APS) is a systemic auto-immune disease with an unclear pathophysiology. The aim of our study was to understand the development of APS on a cellular level.[ncbi.nlm.nih.gov]
  • The pathophysiology and management of this rare condition is discussed. 2016 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • This review focuses on the various manifestations of APS as a result of APS-related vasculopathy, as well as pathophysiology, current screening, and treatment options for clinicians to be aware of.[ncbi.nlm.nih.gov]
  • In this review, we will critically discuss what is known and what is debatable on the pathophysiology of antiphospholipid syndrome. Copyright 2017 Elsevier Ltd. All rights reserved.[ncbi.nlm.nih.gov]

Prevention

  • The complement block, which interrupts this amplification cycle, could prevent CAPS in patients with early TMA who face precipitating events.[ncbi.nlm.nih.gov]
  • Moreover, the immunmodulator hydroxychloroquine may play a beneficial role in the prevention of aPL-related pregnancy complications.[ncbi.nlm.nih.gov]
  • This approach is not uniformly effective and does not prevent associated autoimmune and inflammatory complications.[ncbi.nlm.nih.gov]
  • AUTHORS' CONCLUSIONS: There is not enough evidence for or against NOACs or for high-intensity VKA compared to the standard VKA therapy in the secondary prevention of thrombosis in people with APS.[ncbi.nlm.nih.gov]
  • Low intensity warfarin alone was successful to maintain target INR (2.0 - 3.0) and prevent recurrence of thrombosis.[ncbi.nlm.nih.gov]

References

Article

  1. Fischer MJ, Rauch J, Levine JS. The Antiphospholipid Syndrome. Semin Nephrol. 2007;27(1):35-46.
  2. Lim W. Antiphospholipid antibody syndrome. Hematology Am Soc Hematol Educ Program. 2009:233-239.
  3. Chaturvedi S, McCrae KR. The antiphospholipid syndrome: still an enigma. Hematology Am Soc Hematol Educ Program. 2015;2015:53-60.
  4. Cervera R, Font J, Gómez-Puerta JA, et al. Validation of the preliminary criteria for the classification of catastrophic antiphospholipid syndrome. Ann Rheum Dis. 2005;64:1205–1209.
  5. Asherson RA, Cervera R, Piette JC, et al. Catastrophic antiphospholipid syndrome. Clinical and laboratory features of 50 patients. Medicine (Baltimore). 1998;77:195–207.
  6. Miyakis S, Lockshin MD, Atsumi T, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost. 2006;4:295–306.
  7. Pengo V, Tripodi A, Reber G, et al. Update of the guidelines for lupus anticoagulant detection: Subcommittee on Lupus Anticoagulant/Antiphospholipid Antibody of the Scientific and Standardisation Committee of the International Society on Thrombosis and Haemostasis. J Thromb Haemost. 2009;7(10):1737–1740.

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Last updated: 2019-07-11 20:30