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American Journal of Forensic Medicine & Pathology:
doi: 10.1097/PAF.0b013e31822ad23e
Case Reports

Evolution of Antiphospholipid Antibody Syndrome

Baviskar, Rutuja R. MBBS; Amonkar, Gayathri P. MD, DNB; Chaudhary, Vinod A. MBBS; Balasubramanian, Meenakshi MD; Mohite, Shailesh C. MD, DNB, DHA; Puranik, Gururaj V. MD

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From the Department of Pathology, TN Medical College and BYL Nair Hospital, Mumbai, India.

Manuscript received July 22, 2008; accepted March 18, 2009.

The authors report no conflicts of interest.

Reprints: Gayathri P. Amonkar, MD, DNB, TN Medical College and BYL Nair Hospital, Dr A.L. Nair Rd, Mumbai Central, Mumbai - 400 008 Maharashtra, India. E-mail: gpamonkar@hotmail.com.

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Abstract

Abstract: Antiphospholipid antibody syndrome is a very important cause of cerebral infarction, myocardial infarction, and repeated pregnancy losses in women. We present an extremely rare case of a 44-year-old man with antiphospholipid syndrome who collapsed and died suddenly. At autopsy, he was found to have both cerebral and myocardial infarction. In all young patients with cerebral infarction, myocardial infarction, pulmonary embolism, recurrent miscarriages, and unexplained low platelet count, one must consider the strong possibility of antiphospholipid antibody syndrome.

Antiphospholipid antibody syndrome (APLAS) is a systemic autoimmune disorder and an important cause of hypercoagulable state along with other causes like protein C, protein S deficiency, anti–thrombin III, and hyperhomocystinemia.1 It is an important cause of stroke and myocardial infarction in young patients along with recurrent pregnancy losses in women.2 In all young patients with cerebral infarction, myocardial infarction, pulmonary embolism, recurrent miscarriages, and unexplained low platelet count, one must consider the strong possibility of APLAS.

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CASE REPORT

A 44-year-old man, nonaddict, nondiabetic, and hypertensive since 15 years, had a sudden loss of consciousness. He was declared dead before arrival in the hospital. He had a history of acute myocardial infarction at the age of 18 years, followed by hemiplegia at 34 years. Computed tomography performed then revealed a large right middle cerebral artery infarct. The patient developed scar epilepsy after stroke and was treated regularly with phenytoin and valproate. Seven years prior, the patient was hospitalized for loss of consciousness. On investigation, a right bundle branch block was detected, and a pacemaker was inserted. A coronary angiograph revealed an atherosclerotic plaque in the left anterior descending artery. A cerebral angiograph revealed chronic embolic occlusion of the right middle cerebral artery. Investigations for hypercoagulopathy revealed moderately positive anticardiolipin antibodies (ACLAs) IgM and IgG with normal levels of protein C and protein S, anti–thrombin III, and factor V Leiden. The ACLA IgM and IgG antibodies were tested using an enzyme-linked immunosorbent assay. The patient was given warfarin and followed up for levels of prothrombin time, prothrombin index and international normalised ratio.

At autopsy, the brain showed presence of a large 6 × 5-cm cystic mass in the right parietotemporal region, which, on the cut section, showed gliosis (Fig. 1). The rest of the brain was soft and edematous. The vessels of circle of Willis showed atherosclerotic changes. The heart was enlarged and weighed 500 g. The pacemaker was seen in situ. The left ventricle was extremely dilated, and the anterior wall was thinned out from base to apex, suggestive of an old healed infarct (Fig. 2). All coronary arteries showed 30% to 40% eccentric block. Sections from the brain showed presence of cyst lined by astrocytic cells and large areas of gliosis, suggestive of healed cerebral infarction (Fig. 3). Microscopy of the heart revealed large areas of transmural fibrosis of the anterior left ventricle (Fig. 4).

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DISCUSSION

Antiphospholipid antibodies (APLAs) are a group of serum immunoglobulins (IgG, IgM, and others). The mechanism of systemic arterial and venous thrombosis in APLAS is not well understood.3 These probably bind to negatively charged or to the neutral phospholipid component of the cell membrane and cause increased tendency for thrombosis.4 They may interfere with substances in blood that normally prevent excess clotting like protein C and S. There are many subgroups of APLAs, clinically most important are ACLAs and lupus anticoagulant.

The exact frequency of APLAS in the general population is not known. However, 1% to 5% of the general population has positive APLAs.3 Antiphospholipid antibody syndrome is found in around 16% of women with recurrent spontaneous abortion. Antiphospholipid antibody syndrome is mostly acquired; however, in some families, APLAS is reported to be hereditary.3

Antiphospholipid antibody syndrome is strongly associated with systemic lupus erythematosus and is found in around 12% to 34% of people with systemic lupus erythematosus. This is labeled as secondary APLAS.3 Antiphospholipid antibody syndrome is also seen secondary to malignancies; to infections like human immunodeficiency virus, hepatitis C, parvovirus B19, and varicella; and to a few drugs. The syndrome of thrombotic events and presence of APLA in circulation in the absence of any autoimmune disorder is called primary APLAS.

Of patients with myocardial infarction, as many as 17% may have positive APLAs at the time of presentation.3 Myocardial infarction was seen in our patient at a young age of 18 years. Patients with APLAS have 2 to 7 times increased risk for stroke compared with the general population. Antiphospholipid antibody syndrome is reported in 2% to 46% of stroke patients.3,4 Our patient had cerebral infarction at the age of 34 years.

Complications associated with APLAS mainly include venous and arterial thrombosis, leading to stroke, myocardial infarction, repeated pregnancy losses, along with neurologic complications such as acute ischemic encephalopathy, multi-infarct dementia, migraine, and transverse myelitis.2,4–7 However, some patients with APLAS remain asymptomatic, although they are at an increased risk of developing thrombotic complications compared with the general population.3 Presently, routine use of anticoagulants is not recommended in asymptomatic individuals.

Cardiac manifestations of APLAS include premature myocardial infarction, atherosclerosis, valvular pathologies, intracardiac thrombi, coronary artery bypass graft occlusion, diffuse cardiomyopathy, and hypertension.6–9 Common neurologic manifestations include stroke and other disorders with vascular pathogenesis like amaurosis fugax, multi-infarct dementia, chorea, migraine, and transverse myelitis.4

Our patient was a young man who had myocardial infarction at a very young age of 18 years and had a recurrent thrombotic phenomenon in the form of massive stroke at the age of 34 years. No associated autoimmune disease or other conditions accompanying secondary APLAS such as malignancy, history of drug ingestion, or presence of any infective agent were found.

To conclude, all young patients who had stroke, myocardial infarction, pulmonary embolism, recurrent miscarriages, and unexplained low platelet count should be tested for APLAs. It is a treatable condition, and life-threatening complications can be avoided with long-term anticoagulants.

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REFERENCES

1. Kubba S, Rohit MK, Vijayvergiya R, et al.. Cerebral infarction in a 17-year-old boy. J Post Grad Med. 2004; 50: 123–124.

2. Brey RL. Antiphospholipid antibodies in young adults with stroke. J Thromb Thrombolysis. 2005; 20 (2): 105–112.

3. Misita CP, Moll S. Antiphospholipid antibodies. Circulation. 2005; 112 (3): 39–44.

4. Mehndiratta MM, Bhattacharya A, Gupta M, et al.. Antiphospholipid antibodies syndrome in ‘Stroke in young.’ Neurol India. 1999; 47: 122.

5. Sanna G, Bertolaccini ML, Cuadrado MJ, et al.. Central nervous system involvement in the antiphospholipid (Hughes) syndrome. Rheumatology. 2003; 42: 200–213.

6. Tenedios F, Erkan D, Lockshin MD. Cardiac involvement in the antiphospholipid syndrome. Lupus. 2005; 14 (9): 691–696.

7. Kaplan SD, Chartash EK, Pizzarello RA, et al.. Cardiac manifestations of the antiphospholipid syndrome. Am Heart J. 1992; 124 (5): 1331–1338.

8. Karim MY, Alba P, Tungekar MF, et al.. Hypertension as the presenting feature of the antiphospholipid syndrome. Lupus. 2002; 11 (4): 253–256.

9. Kattwinkel N, Villanueva AG, Labib SB, et al.. Myocardial infarction caused by cardiac microvasculopathy in a patient with the primary antiphospholipid syndrome. Ann Intern Med. 1992; 116: 974–976.

Keywords:

antiphospholipid antibody syndrome; cerebral infarction; myocardial infarction; antiphospholipid antibodies

© 2012 Lippincott Williams & Wilkins, Inc.

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