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Familial Non-Neuropathic Amyloidosis



  • PDF Merrill Benson and Isis Presentation PDF Teresa M Kruisselbrink, CGC Presentation PDF A.K.[amyloidosissupport.org]
  • Difficult concepts are clarified, using simple diagrams to explain the link between pathology and clinical presentation.[books.google.com]
  • Clinical description FAP is clinically heterogeneous, with the clinical presentation depending on the genotype and geographic origin. FAP usually presents as a length-dependent sensory polyneuropathy with autonomic disturbances.[orpha.net]
  • The clinical presentation is very varied because of the wide number of tissues or organs that may be affected. The most common presenting symptoms are weakness and dyspnoea.[patient.info]
  • AMYL8 Synonyms Amyloidosis VIII Familial amyloid nephropathy Familial renal amyloidosis Familial visceral amyloidosis German type amyloidosis Ostertag type amyloidosis Systemic non-neuropathic amyloidosis Keywords Any medical or genetic information present[uniprot.org]
Family History of Heart Disease
  • Study of Family Members There was no family history of heart disease or sudden death. His mother had died at age 51 from tuberculosis and his father was still alive at age 72, with no significant conditions.[revespcardiol.org]


First-Degree Atrioventricular Block
  • Electrocardiogram (ECG) revealed sinus rhythm, low voltages in limb leads, QS waves in precordial and inferior leads, first-degree atrioventricular block, and prolonged QTc ( Figure 1 ).[dovepress.com]
Sago Spleen
  • spleen Secondary localized cutaneous amyloidosis Secondary systemic amyloidosis affecting skin (AA fibril type) Senile brain amyloidosis Senile cardiac amyloidosis Senile systemic amyloidosis Sporadic primary amyloidosis Systemic amyloidosis Systemic[emedcodes.com]


  • Management and treatment Management of FAP should be multidisciplinary, involving a neurologist, geneticist, cardiologist and liver surgeon.[orpha.net]
  • An overview of the use of high-dose melphalan with autologous stem cell transplantation for the treatment of AL amyloidosis. Bone Marrow Transplant. 2001;28:637-42.[rarediseases.org]
  • These treatments are mentioned at our meetings, on our website, and other electronic format for educational purposes. We encourage you to consult your amyloidosis professional when choosing a treatment plan.[amyloidosissupport.org]
  • Treatment of AL amyloidosis is based on chemotherapy.[patient.info]
  • After 3 months of treatment, which was well tolerated, right heart catheterization was performed once again, and showed reduced pulmonary resistance.[revespcardiol.org]


  • Diagnosis - Hereditary ATTR amyloidosis Prognosis - Hereditary ATTR amyloidosis Not supplied. Treatment - Hereditary ATTR amyloidosis Resources - Hereditary ATTR amyloidosis[checkorphan.org]
  • Amyloidosis associated with multiple myeloma has the poorest prognosis, and death within one year is common. All forms of renal amyloidosis have a poor prognosis, but patients may remain stable and even improve with supportive therapy.[patient.info]
  • Prognosis FAP is a severe and disabling disease. Severe cardiac, renal and ocular manifestations may develop.[orpha.net]
  • Diagnosis, prognosis, and therapy of transthyretin amyloidosis. J Am Coll Cardiol. 2015;66:2451-2466. Mahmoud S, Palladini G, Sanchorawala V, Wechalekar A. Update on treatment of light chain amyloidosis. Haematologica. 2014;99:209-221.[rarediseases.org]
  • Prognosis of patients with primary systemic amyloidosis who present with dominant neuropathy. Am J Med. 1998;104(3):232–237. 8. Koike H, Hashimoto R, Tomita M, et al.[dovepress.com]


  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • Etiology FAP is transmitted as an autosomal dominant trait and is caused by mutations in the TTR gene (18q12.1).[orpha.net]
  • They can also be differentiated according to their etiology, secondary (caused by another disease), or primary (cause unknown). Primary amyloidosis generally affect nerves, skin, tongue, joint, heart and liver.[ivami.com]
  • Cornea. 2001 Nov; 20(8): 850-2 Babalola,-O-E; Murdoch,-I-E Corneal changes of uncertain etiology in mesoendemic onchocercal communities of Northern Nigeria.[malattierare.regione.veneto.it]
  • Noninvasive etiologic diagnosis of cardiac amyloidosis using 99m Tc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005;46:1076-84. Medline 7. Perugini E, Rapezzi C, Piva T, Leone O, Bacchi-Reggiani L, Riva L, et al.[revespcardiol.org]


  • […] erythematosus 809 7 857 organic solvents and smoking 903 disease 921 5 995 interstitial disease 1019 The development of the kidney 1050 J Stewart Cameron 1059 malignancy of the kidney 1089 Seppo Vainio 1091 8 1093 parenchymal disease 1361 and J F E Mann 1399 Epidemiology[books.google.com]
  • Summary Epidemiology The prevalence worldwide is unknown, but the prevalence in the general population in Japan has recently been estimated at around 1 per million.[orpha.net]
  • Epidemiology Amyloidosis is a rare disease.[patient.info]
  • Sousa A, Coelho T, Barros J, Sequeiros J: Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 1995;60:512-521.[karger.com]
Sex distribution
Age distribution


  • Islet amyloid and type 2 diabetes; from molecular misfolding to islet pathophysiology. Biochim Biophys Acta. 2001;1537:179-203. Sanchorawala V, Wright DG, Seldin DC, et al.[rarediseases.org]
  • Therefore, TTR cardiac amyloid deposition, especially in older adults, is not rare, can be easily identified, and may contribute to the underlying pathophysiology of HFPEF. Figure 1 As no U.S.[pharmaceuticalintelligence.com]


  • The purpose of this study is to determine if diflunisal can prevent progressive lower leg nerve damage in patients with familial amyloidosis polyneuropathy.[clinicaltrials.gov]
  • […] amyloidosis hATTR amyloidosis is caused by a mutation in the transthyretin (TTR) gene that results in misfolded TTR proteins accumulating as amyloid fibrils in multiple tissues in the body, including the nerves, heart, and gastrointestinal tract. 2,4,5 Prevention[checkorphan.org]
  • Liver transplantation (LT) is currently the only treatment for preventing synthesis of the amyloidogenic variants of TTR. LT can stop progression of the disease during its early stages.[orpha.net]
  • The aim is to prevent the formation of further amyloid deposits by reducing the supply of the amyloid forming precursor variant TTR.[ttrstudy.com]
  • Treatment Treatment of amyloid neuropathies is directed at both preventing further deposition of amyloid in peripheral nerves and treating painful symptoms.[hopkinsmedicine.org]

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