Secondary amyloidosis in an alkaptonuric aortic valve

Millucci, Lia; Ghezzi, Lorenzo; Braconi, Daniela; Laschi, Marcella; Geminiani, Michela; Amato, Loredana; Orlandini, Maurizio; Benvenuti, Chiara; Bernardini, Giulia; Santucci, Annalisa

doi:10.1016/j.ijcard.2013.12.117

Cited by 35 publications

(38 citation statements)

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“…Amyloidosis involves the conversion of normally soluble proteins into insoluble fibrillar aggregate structures. A growing literature suggests that it is a secondary effect of ochronosis in vitro and in vivo . A number of observations report presence of amyloid A protein aggregates and fibrils in AKU serum and ochronotic tissue from a number of locations including cartilage, synovia, heart, periumbrical abdominal, articular fat, and labial salivary gland.…”

Section: Op and Amyloidmentioning

confidence: 99%

Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease—A review

Ranganath

Norman

Gallagher

2019

J of Inher Metab Disea

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Ochronosis is the process in alkaptonuria (AKU) that causes all the debilitating morbidity. The process involves selective deposition of homogentisic acid (HGA)‐derived pigment in tissues altering the properties of these tissues, leading to their failure. Some tissues like cartilage are more easily affected by ochronosis while others such as the liver and brain are unaffected for reasons that are still not understood. In vitro and mouse models of ochronosis have confirmed the dose relationships between HGA and ochronosis and also their modulation by p‐hydroxyphenylpyruvate dioxygenase inhibition. Ochronosis cannot be fully reversed and is a key factor in influencing treatment decisions. Earlier detection of ochronosis preferably by noninvasive means is desirable. A cause‐effect relationship between HGA and ochronosis is discussed. The similarity in AKU and familial hypercholesterolaemia is explored and lessons learnt. More research is needed to more fully understand the crucial nature of ochronosis.

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Section: Op and Amyloidmentioning

confidence: 99%

Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease—A review

Ranganath

Norman

Gallagher

2019

J of Inher Metab Disea

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“…Alkaptonuric ochronosis, an autosomal recessive trait, is caused by a deficiency of homogentisic acid oxidase that results in black discoloration of cartilaginous and other tissues. [1][2][3][4] Sites of deposition are the aortic valve, mitral valve and mitral annulus, pericardium, mural endocardium, pulmonary valve, and regions of replacement fibrosis. 5 There is no treatment for alkaptonuric ochronosis, although nitisinone inhibits the enzyme that produces homogentisic acid.…”

Section: E444mentioning

confidence: 99%

Mending a Darkened Heart

et al. 2016

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“…Additionally, 55 samples of synovial fluid were obtained. The concentrations and activity of MBL and ficolin-3 were determined in functional ELISA with use of specific antibodies [1,2]. The single nucleotide polymorphisms in MBL2 gene promoter and exon 1 as well as FCN3 frame-shift mutation 1637 delC were determined using PCR/RFLP methods [1, 2].…”

mentioning

confidence: 99%

“…We suggest that it is important to consider the diagnosis of BD in similar patients since early recognition and intensive use of immunosuppressives improves the prognosis in patients with PAA. References: [1] Background: Cryopyrin-associated periodic syndromes (CAPS) are a group of rare autoinflammatory diseases caused by dominantly inherited mutations, or de novo gain-of function mutations within CIAS1/NLRP3 gene. Q703K is a variant of CIAS1/NLRP3 gene with unknown pathogenic significance, being also present with an allele frequency of 5% in Caucasian healthy population.…”

mentioning

confidence: 99%

“…The role of proteins has been hypothesized as additional causal factors of ochronosis. Evidence has been provided on the presence of serum amyloid A (SAA) in AKU tissues (1)(2)(3)(4)(5), which allows classifying AKU as a secondary amyloidosis (6). Objectives: To collect direct and indirect indications of secondary amyloidosis in AKU patients and find a correlation between serum levels of inflammation and oxidative stress markers and clinical parameters.…”

mentioning

confidence: 99%

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THU0540 Screening of Familial Mediterranean Fever in Patients with Vertigo

Haraś

Küçük²,

Turkmen³

et al. 2015

Ann Rheum Dis

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BackgroundFamilial Mediterranean fever is an autosomal recessive disease, characterized by recurrent attacks of fever and serositis. Generally, Sephardic Jews living in the mediterranean descent, Arabs, Turks, Armenians and other communities are affected by Familial Mediterranean Fever. It is characterized by abdomen, chest, joint, muscle aches associated with serositis and fever attacks.Vertigo is a frequent reason of admission to emergency services. Depending on the underlying problem, vertigo can be the sign of many diseases. Vertigo could be either psychological or pathological. Pathological Vertigo can be peripheral or central.ObjectivesFamilial Mediterranean Fever and vertigo shows clinical similarities. This study is built on the hypothesis that Familial Mediterranean Fever presents with serositis (including meninx), patients' admittion with atypical presentation such as dizziness associated with inflammation and ischemia, excluding classical symptoms such as abdominal and chest pain, synovial attack.Methods200 volunteered patients diagnosed with vertigo at the age of between 18-65 years who admitted to Neurology, Ear-Nose-Throat and Internal Medicine clinics of Meram Medical Faculty and Okmeydani Training and Research Hospital, and their same age in the group of 200 healthy volunteers that not diagnosed with vertigo were included in this study, their written and verbal informed consent obtained. Questionary were asked to the patients. Patients with middle ear problems, recurrent otitis media, chronic otitis media, use of ototoxic drugs, amyloidosis, diabetes mellitus, treatment of head and neck radiotherapy, medical history of acoustic trauma and workers exposed to noisy environment excluded from the study.ResultsIn 65 of the patients who diagnosed with vertigo had at least one of the symptoms of peritonitis, pleuritis or arthritis. In addition, 6 of the 65 patient had erysipel alike rash. Also in the control group, 44 volunteers had at least one of the symptoms of peritonitis, pleuritis or arthritis. However, none of these patients had erysipel alike rash. In the comparasion of two groups for the possible diagnosis of Familial Mediterranean Fever according to Tel – Hashomer criteria, the chi-square test was calculated as p=0.09, that shows no significant difference statistically.3 of the 65 patient who diagnosed with vertigo that have at least one of the symptoms of peritonitis, pleuritis or arthritis, there was a history of Familial Mediterranean Fever shown in the 1st degree of relatives. In the control group, only 1 of the 44 patients has history of Familial Mediterranean Fever in their 1st degree of relatives In the comparasion of two groups for the possible diagnosis of Familial Mediterranean Fever according to Tel – Hashomer criteria, the chi-square test was calculated as p=0.09, that shows no significant difference statistically.ConclusionsWith the data acquired, 8 of the patients in the vertigo group have met the criteria for probable diagnosis of Familial Mediterranean Fever. In the control group...

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Secondary amyloidosis in an alkaptonuric aortic valve

Cited by 35 publications

References 10 publications

Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease—A review

Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease—A review

Mending a Darkened Heart

THU0540 Screening of Familial Mediterranean Fever in Patients with Vertigo

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