Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum

Cattan, D; Bouali, B.; Chassaing, Nicolas; Martínez, Fredy Hermógenes Prada; Dupont, Jean‐Michel; Dodé, Catherine; Martin, Ludovic

doi:10.1111/j.1365-2133.2006.07187.x

Cited by 8 publications

(6 citation statements)

References 24 publications

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“…Two nonexclusive pathogenic explanations have been proposed to support this hypothesis (Cattan et al 2006). Although some risk factors have been defined for the incidence of amyloidosis, expressivity of the disease and variation in response to colchicine therapy remain relatively less understood.…”

Section: Resultsmentioning

confidence: 99%

“…We have recently reported a young patient suffering from both FMF and pseudoxanthoma elasticum (PXE) (Cattan et al 2006). PXE is an autosomal recessive systemic disease of connective tissue, primarily affecting the skin, retina and cardiovascular systems.…”

Section: Introductionmentioning

confidence: 99%

“…PXE is an autosomal recessive systemic disease of connective tissue, primarily affecting the skin, retina and cardiovascular systems. Two nonexclusive pathogenic explanations have been proposed: increased amyloid deposition in target tissues and/or decrease in colchicine activity (Cattan et al 2006). E-mail: chassaing.n@chu-toulouse.fr.…”

Section: Introductionmentioning

confidence: 99%

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ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity

Chassaing

Touitou

Cattan

et al. 2007

J Genet

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity

Chassaing

Touitou

Cattan

et al. 2007

J Genet

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“…Tissue biopsy, either of an involved organ or a surrogate site (e.g., abdominal fat), must demonstrate amyloid deposition by classic Congo red staining or electron microscopy. For typing , immunohistochemical staining is frequently unreliable and inaccurate, and immunogold electron microscopy is reliable but limited by serologic dependence (1)(2).…”

Section: Discussionmentioning

confidence: 99%

Pseudoxanthoma Elasticum and Light-Chain Amyloidosis

et al. 2012

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Pseudoxanthoma elasticum is a heritable disorder of connective tissue characterized by cutaneous, vascular and ocular changes that result from the accumulation of fragmented elastic fibres. Even though the etiopathogenesis is not still completely understood, in recent years in literature some Authors have considered pseudoxanthoma elasticum as a metabolic disorder. We present the case of a 45-year-old man affected by pseudoxanthoma elasticum and light-chain amyloidosis and we discuss the possible reasons that led to this association.We report the case of a 45-year-old man who presented pseudoxanthoma elasticum, associated with light-chain amyloidosis. This association is quite rare, even though in literature there are a few cases reported. This study would like to stress and underline the importance of considering pseudoxanthoma e1asticum as a metabolic disorder and not as a primary elastic disorder. Moreover, we would like to underline the importance of considering that pseudoxanthoma elasticum could favour amyloidogenesis and fibril stabilization. MATERIALS AND METHODSA 45-year-old Caucasian Italian man was admitted to our hospital for the onset of progressively less exertion dyspnea and lower limb edema. A complete medical history was taken and general physical examination was performed. A complete familial medical history was performed. Routine laboratory tests included complete blood count, erythrocyte sedimentation rate, routine biochemistry. Echocardiographic and electrocardiographic tests were carried out, in addition to a cardiac MRI. A bone marrow biopsy, an accessory salivary gland biopsy and a skin biopsy of the affected area were taken. The material was fixed in formalin and embedded in paraffin. Routine histologic skin sections were stained with Hematoxylineosin, Weigert stain and red Congo stain. RESULTS HistoryIn May 2011, a 45-year old man was admitted to our hospital for the onset of progressively less

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“…However, these factors do not account for the total contribution to amyloidosis susceptibility. A patient suffering from both FMF and PXE was found to be homozygous for both the p.(Met694Ile) mutation in MEFV and p.(Gly1042Ser) in ABCC6 [ 145 , 146 ]. As this patient developed severe amyloidosis despite appropriate colchicine treatment, the possibility that ABCC6 deficiency contributed to the severity of FMF was raised.…”

Section: Relevance Of Abcc6 For Complex and Rare Disorders And Dismentioning

confidence: 99%

The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders

Vilder

Vanakker

2015

BioMed Research International

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The knowledge on the genetic etiology of complex disorders largely results from the study of rare monogenic disorders. Often these common and rare diseases show phenotypic overlap, though monogenic diseases generally have a more extreme symptomatology. ABCC6, the gene responsible for pseudoxanthoma elasticum, an autosomal recessive ectopic mineralization disorder, can be considered a paradigm gene with relevance that reaches far beyond this enigmatic orphan disease. Indeed, common traits such as chronic kidney disease or cardiovascular disorders have been linked to the ABCC6 gene. While during the last decade the awareness of the wide ramifications of ABCC6 has increased significantly, the gene itself and the transmembrane transporter it encodes have not unveiled all of the mysteries that surround them. To gain more insights, multiple approaches are being used including next-generation sequencing, computational methods, and various “omics” technologies. Much effort is made to place the vast amount of data that is gathered in an integrated system-biological network; the involvement of ABCC6 in common disorders provides a good view on the wide implications and potential of such a network. In this review, we summarize the network approaches used to study ABCC6 and the role of this gene in several complex diseases.

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Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum

Cited by 8 publications

References 24 publications

ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity

ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity

Pseudoxanthoma Elasticum and Light-Chain Amyloidosis

The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders

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