Hepatolenticular Degeneration Combined with Primary Antiphospholipid Syndrome: A Case Report

Atanassova, Penka A.; Panchovska, M.; Tzvetanov, Plamen; Chalakova, Nedka T.; Masaldzhieva, Radka I.; Dimitrov, Borislav D.

doi:10.1159/000091426

Cited by 9 publications

(7 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Notably, cirrhosis is inversely associated with hypercoagulation by aCL; however, one half of the patients with splanchnic thromboses (12%) in biopsy-diagnosed cirrhosis were positive for LA or aCL. At the same time it was found that 75% of LA patients were positive for HCV, which further supports the possible association between chronic HCV infection and aPLs85 Recently, a case of Wilson's disease (hepatolenticular degeneration) was reported along with primary APS in a patient presenting mainly with extrapyramidal damage 86. The latter was supposed to have had an autoimmune aPL component provoking mainly recurrent arterial/venous thrombosis and thrombocytopenia, but a possible systemic cellular involvement by aPLs in the central nervous system (besides thrombosis) may have interacted with a specific genetic background 51…”

Section: Aps and Vaso-ischemic (Occlusive) Diseases With Neuropsychiamentioning

confidence: 67%

“…As emphasized elsewhere,51 a specific genetic background with autoimmune mechanisms may have been involved not only in the recently reported case of Wilson's disease in APS with predominant extrapyramidal symptomatics,86 but also in the aforementioned dystonia, Parkinsonism,179 or other neurological disorders. Such diseases in APS, with ischaemia and/or direct neural/neuronal tissue damage by antibody-mediated interactions, are separately described in the following sections.…”

Section: Aps and Vaso-ischemic (Occlusive) Diseases With Neuropsychiamentioning

confidence: 83%

“…Since the first report by Hughes in 1983,109 the cerebral symptomatics in APS patients have become more and more important. Table 4 summarizes CNS manifestations: much of these symptomatics could not be explained solely by hypercoagulability and could have had a more complex origin 51,86. In many patients with chorea, for example, focal lesions on computed tomography (CT) scan, possibly due to thrombosis, have not been found 110,111.…”

Section: Aps and Vaso-ischemic (Occlusive) Diseases With Neuropsychiamentioning

confidence: 99%

See 2 more Smart Citations

Antiphospholipid Syndrome and Vascular Ischemic (Occlusive) Diseases: An Overview

Atanassova

2007

Yonsei Med J

Self Cite

View full text Add to dashboard Cite

Antiphospholipid syndrome (APS) is primarily considered to be an autoimmune pathological condition that is also referred to as "Hughes syndrome". It is characterized by arterial and/or venous thrombosis and pregnancy pathologies in the presence of anticardiolipin antibodies and/or lupus anticoagulant. APS can occur either as a primary disease or secondary to a connective tissue disorder, most frequently systemic lupus erythematosus (SLE). Damage to the nervous system is one of the most prominent clinical constellations of sequelae in APS and includes (i) arterial/venous thrombotic events, (ii) psychiatric features and (iii) other non-thrombotic neurological syndromes. In this overview we compare the most important vascular ischemic (occlusive) disturbances (VIOD) with neuro-psychiatric symptomatics, together with complete, updated classifications and hypotheses for the etio-pathogenesis of APS with underlying clinical and laboratory criteria for optimal diagnosis and disease management.

show abstract

Section: Aps and Vaso-ischemic (Occlusive) Diseases With Neuropsychiamentioning

confidence: 67%

Section: Aps and Vaso-ischemic (Occlusive) Diseases With Neuropsychiamentioning

confidence: 83%

Section: Aps and Vaso-ischemic (Occlusive) Diseases With Neuropsychiamentioning

confidence: 99%

See 1 more Smart Citation

Antiphospholipid Syndrome and Vascular Ischemic (Occlusive) Diseases: An Overview

Atanassova

2007

Yonsei Med J

Self Cite

View full text Add to dashboard Cite

show abstract

“…Huang et al [21] reported a middle-aged woman who initially exhibited ataxia and parkinsonism but progressed to dementia 8 months later. Atanassova et al [22] mentioned a young man presenting with late-onset ataxia, parkinsonism and cognitive deficits. The levels of aCL-IgG and aCL-IgM were increased in all of these patients.…”

Section: Discussionmentioning

confidence: 99%

Antiphospholipid Antibodies and Cerebellar Ataxia: A Clinical Analysis and Literature Review

Chen

Chui

et al. 2014

Neuroimmunomodulation

View full text Add to dashboard Cite

Background: Although it has been established that antiphospholipid antibodies (APAbs) bind to and modulate the signaling of cerebellar neurons in vitro, the clinical correlation between increased APAbs and cerebellar ataxia has rarely been investigated. Methods: We reviewed 10 patients presenting with cerebellar ataxia with increased blood APAbs from our database along with 3 APAb-associated cerebellar ataxia patients in the literature. Results: Of these 10 patients, 4 exhibited a subacute onset of progressive ataxia, and there were no significant structural changes in their brains that appeared to be responsible for the symptoms. Another 6 showed a chronic course of ataxia, and shared similar morphological changes that included symmetrical lesions in bilateral hemispheres, periventricular lucency and central and temporal atrophy of varying severity; the cerebellum was spared. The predominant APAbs for subacute and chronic ataxia were the anti-beta₂-glycoprotein I antibody and anticardiolipin antibody, respectively. Cancer was found in 1 patient with subacute ataxia and in 4 with chronic ataxia. The removal of the cancer, the plasmapheresis and immunosuppressive therapy successfully abolished the ataxia and increased APAb levels in all 5 patients. Conclusions: The relation between APAbs and nonvascular neurological disorders, such as cerebellar ataxia, should be further studied. APAbs may mediate neurological deficits via different mechanisms such as structural damage or functional neurotoxicity. Clinically, the examination of blood APAb levels is recommended for patients with cerebellar ataxia without a determined cause, and the further survey of systemic cancers in the case of APAb positivity is also recommended. Finally, plasmapheresis is a reasonable and effective treatment for APAb-associated cerebellar ataxia.

show abstract

“…Haemolytic anaemia due to the copper-induced damage of erythrocytes may be accompanied by thrombocytopenia; the latter may also be seen without anaemia. Thrombocytopenia was described in a patient with combination of Wilson Disease and antiphospholipid syndrome [9][10][11][12][13][14][15][16][17][18][19].…”

Section: Introductionmentioning

confidence: 99%

Wilson's Disease Presenting with Severe Thrombocytopenia and Urinary Symptoms: Case Report and Literature Review

Zakharova¹,

Ba²

2015

J Nephrol Ther

View full text Add to dashboard Cite

Wilson's disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in liver and brain. Presentation can vary, but the key features of Wilson's disease are hepatic and neuropsychiatric disturbances, Kayser-Fleischer rings of the cornea, acute episodes of hemolysis and sometimes renal impairment. Here, we report a case of Wilson's disease in a young female having severe anaemia without other evidence of hepatic and neuropsychiatric manifestation.

show abstract

Hepatolenticular Degeneration Combined with Primary Antiphospholipid Syndrome: A Case Report

Cited by 9 publications

References 17 publications

Antiphospholipid Syndrome and Vascular Ischemic (Occlusive) Diseases: An Overview

Antiphospholipid Syndrome and Vascular Ischemic (Occlusive) Diseases: An Overview

Antiphospholipid Antibodies and Cerebellar Ataxia: A Clinical Analysis and Literature Review

Wilson's Disease Presenting with Severe Thrombocytopenia and Urinary Symptoms: Case Report and Literature Review

Contact Info

Product

Resources

About