The present study aimed to compare the change in quality of life following liver transplantation between patients with Familial Amyloid Polyneuropathy (FAP) and patients with liver disease. [ncbi.nlm.nih.gov]

A 70-year-old man presented with a personal history of type 2 diabetes and former alcohol dependency (wine, moderate). [ruralneuropractice.com]

We conducted the present study to define the outcome of cardiac involvement after LT in 31 patients with FAP (age, 39 12 yr). Patients were evaluated before and after LT (24 15 mo). [doi.org]

Quality of Life Following Liver Transplantation in Patients With Familial Amyloid Neuropathy Abstract Aim: The present study aimed to evaluate the change in quality of life 12 months following liver transplantation in patients with Familial Amyloid Polyneuropathy [pch.psychopen.eu]

• Progressive Polyneuropathy

  Finnish-type familial amyloidosis (FAP-IV) is an autosomal, dominantly inherited disorder characterized by progressive polyneuropathy and lattice corneal dystrophy type II. The vast majority of families with this disorder originated from Finland. [ncbi.nlm.nih.gov]

  Manifestations of TTR‐related FAP predominantly include a length‐dependent progressive polyneuropathy, myocardiopathy and ocular involvement. Early liver transplantation and tafamidis are currently available to treat these patients. [els.net]

• Steatorrhea

  In most cases co-trimoxazole reduced diarrhea, steatorrhea, and 14C-glycine deconjugation; vitamin B12 absorption returned to normal in one patient after co-trimoxazole treatment. [ncbi.nlm.nih.gov]

Imaging studies Radiolabeled P-component scanning Cardiac imaging (eg, 2-dimensional echocardiography, electrocardiography, or both; CT scanning; nuclear scintigraphy, cardiac MRI) See Workup for more detail. [emedicine.medscape.com]

Following this workup the patient should undergo a DNA analysis and tissue biopsy (Table 1 ), although the uneven distribution of amyloid fibrils may yield false-negative results. [ojrd.biomedcentral.com]

• Pericardial Effusion

  Mild thickening of the aortic and mitral valves persisted as well as the small pericardial effusion, both findings observed six years previously. [elsevier.pt]

  Pericardial effusion is another frequent finding in cardiac amyloidosis. The combination of pericardial effusion and increased ventricular wall thickness should prompt a strong suspicion of amyloidotic cardiomyopathy. [ojrd.biomedcentral.com]

This diarrhea can be temporarily alleviated by co-trimoxazole treatment. [ncbi.nlm.nih.gov]

With no FDA-approved drugs, treatment options are extremely limited and desperately needed.” [spjnews.com]

Continued Treatment Treatment of TTR-FAP depends on your symptoms and how far your condition has developed. The goal of some treatment is to ease the symptoms that are caused when too much amyloid gathers in your organs. [webmd.com]

BU – Amyloid Treatment & Research Program. Hammarström P, Wiseman RL, Powers ET, Kelly JW (January 2003). "Prevention of transthyretin amyloid disease by changing protein misfolding energetics". [ipfs.io]

Treatment: Currently, the only effective treatment for FAP is an orthotopic liver transplant to stop production of misfolded amyloid protein. In patients with severe amyloid cardiomyopathy, a heart transplant may be necessary. [genedx.com]

Diagnosis - Hereditary ATTR amyloidosis Prognosis - Hereditary ATTR amyloidosis Not supplied. Treatment - Hereditary ATTR amyloidosis Resources - Hereditary ATTR amyloidosis [checkorphan.org]

Cardiac complications (dysrhythmias and conduction disturbances, cardiomyopathy and dysautonomia) indicate a poor prognosis, even after liver transplantation. [elsevier.pt]

Patients with TTR Thr-60-Ala and several other mutations have myocardial thickening similar to that caused by AL amyloidosis, although heart failure is less common and the prognosis is better. [web.archive.org]

Zeldenrust SR: ATTR: diagnosis, prognosis, and treatment; in Gertz MA, Rajkumar SV (eds): Amyloidosis: Diagnosis and Treatment. Totowa, Humana Press, 2010. [karger.com]

The deposits are derived from one of several amyloidogenic precursor proteins, and the prognosis of the disease is determined both by the organ(s) involved and the type of amyloid. [acc.org]

Familial amyloid polyneuropathy (FAP) is the most common form of inherited amyloidotic polyneuropathy, with clinical and electrophysiologic findings similar to neuropathies with differing etiologies (e.g., diabetes mellitus). [indiana.pure.elsevier.com]

Other mutant precursor proteins produced in the liver, such as apolipoprotein I and II, lysozyme and fibrinogen Aα, may be of etiological importance as well. [karger.com]

Of the total number of explants, 74.2% presented cirrhosis of various etiologies: HCV-63%, alcohol-10.1%, cryptogenic-9.7%, AIH-6.2% and HBV-4.4%. HCC was found in 40.9% of the cirrhotic livers. [tts.org]

Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. [scielo.br]

This has also proved to be valid for assessing other etiologic forms of amyloidotic cardiomyopathy [ 70 ]. Pericardial effusion is another frequent finding in cardiac amyloidosis. [ojrd.biomedcentral.com]

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]

Deng, Daniel Cruz & Gabriel Vorobiof Current Oncology Reports (2017) Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study Juan Reinés, Tomás Vera, Mercedes Martín, Hernán [doi.org]

Sousa A, Coelho T, Barros J, Sequeiros J : Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 1995; 60 : 512–521. 3. [nature.com]

Systemic AA amyloidosis: epidemiology, diagnosis, and management. Clin Epidemiol. 2014;6:369-77. [ Links ] 36 Scarpioni R, Ricardi M, Albertazzi V. Secondary amyloidosis in autoinflammatory diseases and the role of inflammation in renal damage. [scielo.br]

A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol. 2016. 29 (suppl 1):S000–S000. [Medline]. Phull P, Sanchorawala V, Connors LH, Doros G, Ruberg FL, Berk JL, et al. [emedicine.medscape.com]

Abstract Seven patients with familial amyloid neuropathy (AF amyloidosis) were studied to clarify the pathophysiology of the diarrhea associated with this disorder. [ncbi.nlm.nih.gov]

This raises the possibility that other genetic and environmental factors may be involved in the pathophysiology of this disease. [ceparm.com]

Hirschfield Amyloidosis: a clinico-pathophysiological synopsis [4] P. Garcia-Pavia, M.T. Tome-Esteban, C. Rapezzi Amyloidosis. Also a heart disease [5] C. Rapezzi, G. Merlini, C.C. [elsevier.pt]

New frontiers and insights in pathophysiology, diagnosis, and management. Texas Heart Inst J. 2005;32(2):178-84. [ Links ] 22 Gertz MA, Benson MD, Dyck PJ, Grogan M, Coelho T, Cruz M, et al. [scielo.br]

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]

Oral administration of tafamidis meglumine, which prevents misfolding and deposition of mutated TTR, is under evaluation in patients with TTR FAP. [ncbi.nlm.nih.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]

Different drugs designed to prevent or alleviate accumulation of TTR amyloid protein (transthyretin amyloidois inhibitors) are currently under investigation. [genedx.com]

Screening and prevention of colorectal cancer Source: Finnish Medical Society Duodecim This article is freely available only to users in the UK. [evidence.nhs.uk]

Symptomatic improvement and prevention of possible SCD can be achieved in patients with bradyarrhythmias by early pacemaker implantation. [elsevier.pt]