Diagnosis and Classification

Grateau, Gilles; Stankovic, K.

doi:10.1007/978-1-60761-631-3_3

Cited by 4 publications

(4 citation statements)

References 76 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Histopathological examinations play a critical role in obtaining direct evidence of amyloid deposits and determining the type of amyloid-causing protein [ 45 ]. Systemic amyloidosis including FAP is usually diagnosed on the basis of biopsies of several tissue sites, such as subcutaneous adipose tissue of the abdominal wall [ 46 ], GI tract [ 47 , 48 ], and labial salivary gland [ 49 ], because biopsies of tissue sites with main clinical symptoms such as peripheral nerves, heart, and kidney are more invasive.…”

Section: Introductionmentioning

confidence: 99%

Recent advances in transthyretin amyloidosis therapy

Ueda

Ando

2014

Transl Neurodegener

125

113

View full text Add to dashboard Cite

Mutant (MT) forms of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis—familial amyloidotic polyneuropathy (FAP). Until 20 years ago, FAP was thought to be an endemic disease, but FAP is known to occur worldwide. To date, more than 130 mutations in the TTR gene have been reported. Genotype-phenotype correlations are seen in FAP, and some variation in clinical presentation is often observed in individual kindreds with the same mutation and even among family members. Of the pathogenic TTR mutations, Val30Met was the first to be identified and is the most frequent known mutation found throughout the world. Studies of patients with FAP amyloidogenic TTR (ATTR) Val30Met documented sensorimotor polyneuropathy, autonomic dysfunction, heart and kidney failure, gastrointestinal tract (GI) disorders, and other symptoms leading to death, usually within 10 years of the onset of disease. Diagnosis is sometimes delayed, especially in patients without a clear family history and typical clinical manifestations, since diagnosis requires various studies and techniques such as histopathology, genetic testing, and mass spectrometry. For treatment of FAP, liver transplantation (LT) reportedly halts the progression of clinical manifestations. Exchange of an FAP patient’s diseased liver with a healthy liver causes MT TTR in the body to be replaced by wild-type (WT) TTR. Although clinical evaluations indicated that progression of other clinical symptoms such as peripheral neuropathy, GI symptoms, and renal involvement usually halted after LT in FAP ATTR Val30Met patients, recent studies suggested that LT failed to prevent progression of cardiac amyloidosis in FAP ATTR Val30Met patients after LT, with this failure reportedly being due to continued formation of amyloid that derived mainly from WT TTR secreted from the transplanted non-mutant liver graft. In recent years, many therapeutic strategies have been proposed, and several ongoing therapeutic trials involve, for example, stabilizers of TTR tetramers (tafamidis and diflunisal) and gene therapies to suppress TTR expression (antisense methods and use of small interfering RNAs). These novel therapies may prove to prevent progression of FAP.

show abstract

Section: Introductionmentioning

confidence: 99%

Recent advances in transthyretin amyloidosis therapy

Ueda

Ando

2014

Transl Neurodegener

125

113

View full text Add to dashboard Cite

show abstract

“…The most common type of familial amyloidosis is caused by mutated transthyretin. Other types of hereditary amyloidosis result from mutation of apolipoprotein A-I, gelsoline, alpha chains of fibrinogen A and lysozyme [4,[7][8][9][10].…”

Section: Discussionmentioning

confidence: 99%

“…Lungs are extremely rarely involved in AA, and hereditary types of [2] amyloidosis caused by mutated transthyretin (equivalent for prealbumin) affect mainly the heart. It may also lead to familial polyneuropathy or nephropathy [4,5,[7][8][9]11].…”

Section: Discussionmentioning

confidence: 99%

Transthyretin Amyloidosis with Pulmonary Involvement in a Patient with Monoclonal Gammapathy

Kruczak

Duplaga²,

Sanak³

et al. 2013

Advances in Respiratory Medicine

View full text Add to dashboard Cite

Zmiany płucne w przebiegu starczej amyloidozy z niezmutowanej transtyretyny są rzadko opisywane. Opisywany przypadek dotyczy współistnienia gammapatii monoklonalnej typu MGUS oraz amyloidozy z niezmutowanej transtyretyny z rozległym zajęciem miąższu płucnego. Sześćdziesięciosiedmioletnia kobieta została przyjęta na ddział z objawami duszności, osłabienia, utraty masy ciała oraz zmianami rozsianymi w płucach. W badaniu HRCT obecne były obszary wypełnień pęcherzykowych, pogrubienie linii przegrodowych oraz cechy nadciśnienia płucnego. W ECHO serca stwierdzono cechy znacznego nadciśnienia płucnego, badaniem elektromiograficznym czuciowo-ruchową polineuropatię z uszkodzeniem aksonu i mieliny. Wykazano złogi amyloidu w formie guzków w ścianach oskrzeli oraz zrębie płuca, barwienie na czerwień Congo było dodatnie, ujemne dla białek AA, AL, beta2-mikroglobuliny, dodatnie dla transtyretyny. Amyloidozę potwierdzono również ze śluzówki jelita (ujemne barwienie dla białek AA, AL., beta2-mikroglobuliny, dodatnie dla transtyretyny). Trepanobiopsja szpiku wykazała gammapatię monoklonalną typu MGUS z dodatnim barwieniem na czerwień Congo. U chorej postawiono rozpoznanie amyloidozy z transtyretyny z zajęciem naczyń, w szczególności połączeń tętniczo-żylnych, w tym także płucnych z niewielką ilością białka AL (najpewniej była to wtórna imbibicja z surowicy krwi). Nie stwierdzono mutacji w egzonie 1, 2, 3, 4 dla genu transtyretyny. Pacjentka była leczona metyloprednisolonem, melfalanem oraz cyklofosfamidem. Zdjęcie przeglądowe klatki piersiowej wykonane 1 i 2 miesiące po rozpoczęciu terapii wykazało progresję zmian. Pacjentka zmarła w szpitalu rejonowym–sekcji zwłok nie wykonano.

show abstract

“…The genetic analysis of TTR is performed when there is an argument for transthyretin amyloidosis. MRI (late enhancement of gadolinium) and scintigraphy (cardiac fixation of the tracer) anomalies are also very suggestive of cardiac amyloid involvement but the diagnosis of amyloidosis is purely anatomopathological [6,7].…”

mentioning

confidence: 99%

Acute Coronary Syndrome Revealing Non-AA Amyloidosis: Case-Report and Review of Literature

Mourid

2020

JOCCT

View full text Add to dashboard Cite

Amyloidosis forms a set of diseases characterized histologically by extracellular deposition of insoluble proteins with fibrillar conformation in the tissues. In diffuse forms, heart, kidney and digestive tract are preferentially affected, more than the skin and the peripheral nervous system. Three types of amyloidosis predominate: AL that contains immunoglobulin light-chains, AA or serum amyloid A protein, and transthyretin amyloidosis (ATTR). We report the case of a 65-year-old male hospitalized for Acute Coronary Syndrome and in whom clinical investigations will find non-AA type amyloidosis. Amyloidosis AL is the commonest type, and is associated with cardiac involvement of variable extent in almost 70% of the cases. The diagnosis can be challenging since echocardiographic and cardiac MR findings are nonspecific. Coronary involvement may be due to the presence of infiltration of amyloid deposits at the vascular level. However, only a biopsy of a coronary vascular fragment can confirm the diagnosis with the contribution of histology but this can only be done in post mortem. Cardiac amyloidosis is a rare condition with a poor prognosis, the diagnosis of which should be made early. Coronary artery disease should be systematically sought by cardiac catheterization, in order to improve management.

show abstract

Diagnosis and Classification

Cited by 4 publications

References 76 publications

Recent advances in transthyretin amyloidosis therapy

Recent advances in transthyretin amyloidosis therapy

Transthyretin Amyloidosis with Pulmonary Involvement in a Patient with Monoclonal Gammapathy

Acute Coronary Syndrome Revealing Non-AA Amyloidosis: Case-Report and Review of Literature

Contact Info

Product

Resources

About