AA amyloidosis associated with systemic lupus erythematosus: impact on clinical course and outcome

Yılmaz, Banu Aktaş; Düzgün, Nurşen; Mete, Türkan; Yazıcıoğlu, Levent; Sayki, Müyesser; Ensarı, Arzu; Ertürk, Şehsuvar

doi:10.1007/s00296-007-0431-5

Cited by 15 publications

(4 citation statements)

References 12 publications

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“…The presence of amyloid around vascular structures is rarely seen in primary cutaneous amyloidosis 13 . Cutaneous amyloid deposition has also been described in association with collagen vascular diseases, including lupus, dermatomyositis and morphea 19–21 . Amyloid associated with systemic diseases is not derived from keratin and thus will not stain positively with cytokeratin immunohistochemistry, as was apparent in our patient's biopsy.…”

Section: Discussionmentioning

confidence: 46%

Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female

Fernandes

Mercer

Kleinerman

et al. 2011

Journal of Cutaneous Pathology

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Amyloidosis cutis dyschromica is a rare form of cutaneous amyloidosis in which there is deposition of keratinocyte-derived amyloid with involvement of almost the entire integument, leading to diffuse dyschromia without associated systemic abnormalities. We report the case of a 40-year-old female who presented with the onset of diffuse hyperpigmentation shortly after birth, which was followed by the widespread development of numerous 2-5 mm hypopigmented macules. Biopsy of the one of these macules revealed eosinophilic globular material in the papillary dermis with Congo red birefringence which also stained positively for high-molecular weight cytokeratin. Electron microscopy confirmed the presence of 11 nm hollow fibrils, consistent with amyloid. Similar clinical changes were noted in a younger male sibling. Both patients also suffered from an unexplained neurological disorder characterized by atypical Parkinsonism, spasticity and motor weakness. This association has not been shown before and may represent a heretofore unreported contiguous gene syndrome.

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Section: Discussionmentioning

confidence: 46%

Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female

Fernandes

Mercer

Kleinerman

et al. 2011

Journal of Cutaneous Pathology

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“…In our patient, it is possible that the CTR was the result of the loss of elasticity and chronic cardiac ischemia due to CA. However, this mechanical complication has not been properly established, with only a few cases reported in the literature [ 5 , 7 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

Acute Mitral Regurgitation Due to Chordae Tendineae Rupture: A Rare Presentation of Cardiac Amyloidosis

et al. 2022

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Patient: Male, 22-year-old Final Diagnosis: Cardiac amyloidosis Symptoms: Functional class deterioration (I-IV) • ascending pelvic extremity edema • chest pain Medication: — Clinical Procedure: — Specialty: Cardiology Objective: Unusual clinical course Background: In cardiac amyloidosis (CA), misfolded proteins deposit in the extracellular space of cardiac tissue. These deposits classically cause restrictive cardiomyopathy with diastolic dysfunction. Although there are at least 30 proteins known to cause amyloid aggregates, 2 main types make up most diagnosed cases: light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR). Since CA is considered a rare condition, it is often underdiagnosed or recognized in the advanced stages. Once amyloid deposits involve the heart tissue, they are associated with a worse outcome and higher mortality rates, especially in patients presenting symptoms of heart failure. Case Report: We report a case of a 22-year-old man presenting with acute severe mitral regurgitation, secondary to posterior mitral leaflet chordae tendineae rupture (CTR). Surgical mitral valve replacement with a mechanical pros-thesis was performed, and cardiac tissue biopsy samples were obtained. After surgery, the patient improved significantly but suddenly presented with hemodynamic deterioration, until he died due to severe hemodynamic compromise and multiorgan failure. Although the etiology of the CTR was not established before surgical intervention, the histopathological analysis suggested CA. Conclusions: CA diagnosis can be complex, especially in a 22-year-old-man with atypical clinical and imaging manifestations. In this patient, other differential diagnoses were considered, since CA presenting in a young patient is a rare phenomenon and acute mitral regurgitation secondary to CTR presents more frequently in other heart conditions. Furthermore, rapid postoperative deterioration resulted in the patient’s death before biopsy samples were available because suspicion of amyloidosis had not been raised until that point.

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“…Therefore, it would not be unexpected to occur in SLE (35). AA amyloidosis associated with SLE may affect several organ and tissues such as the kidney, gastrointestinal tract, liver, spleen, heart, lung, and bone marrow (36,37). AA amyloidosis may be associated with long-standing SLE (36).…”

Section: Discussionmentioning

confidence: 99%

“…AA amyloidosis associated with SLE may affect several organ and tissues such as the kidney, gastrointestinal tract, liver, spleen, heart, lung, and bone marrow (36,37). AA amyloidosis may be associated with long-standing SLE (36). The development of renal involvement is a potentially lethal complication of SLE.…”

Section: Discussionmentioning

confidence: 99%

The importance of M694V mutation in systemic lupus erythematosus; implications for its role in neutrophil extracellular traps associated renal involvement

Mohebichamkhorami¹,

Farivar²,

Rafieian-Kopaei³

2017

J Nephropathol

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Background: Systemic lupus erythematosus (SLE) is characterized by multisystem organ involvement. Enhanced neutrophil extracellular traps (NETs) formation and release as well as impaired clearance of NETs have been reported in SLE patients. Renal involvement is common in SLE which might be through deposition of immune complexes within the kidneys. M694V mutation is one of the hot spots of Mediterranean fever gene (MEFV). MEFV mutations have been previously reported in a number of auto-inflammatory and autoimmune diseases in Iranian patients. Objectives: This case-control study was aimed to evaluate the potential influences of M694V gene mutation in SLE disease and in development of renal involvement. Patients and Methods: Genotyping of 130 patients and 116 healthy controls was done for M694V mutation (rs61752717, c.2080A>G) using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method. Results: Significant differences in the alleles and genotypes frequencies of M694V mutation between SLE patients and ethnically matched healthy controls were detected in this study (9.9% versus 2.4% P = 0.000, OR [odds ratio] = 4.277, CI = 2.213-8.265). Furthermore a significant difference of renal involvement between M694V mutation carriers versus noncarriers (8.5% versus 10.4%, P = 0.017, OR = 2.149, CI = 1.135-4.072). Conclusions: The association between M694V mutation and SLE susceptibility was observed. Additionally, renal involvement was significant in SLE patients compared to controls. This finding probably is developed through NET-associated Dnase1 inhibition and maybe amyloidosis. This study may help to explain the nature of the inflammatory state in mutation carriers and assist to an accurate understanding of how it influences SLE pathogenesis.

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AA amyloidosis associated with systemic lupus erythematosus: impact on clinical course and outcome

Cited by 15 publications

References 12 publications

Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female

Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female

Acute Mitral Regurgitation Due to Chordae Tendineae Rupture: A Rare Presentation of Cardiac Amyloidosis

The importance of M694V mutation in systemic lupus erythematosus; implications for its role in neutrophil extracellular traps associated renal involvement

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