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Familial Amyloidosis (Hereditary Amyloidosis)

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Diseases in which there is a familial pattern of AMYLOIDOSIS.

Also Known As:

Hereditary Amyloidosis; Amyloidosis, Familial; Amyloidosis - hereditary; Amyloidoses, Familial; Amyloidoses, Hereditary; Amyloidosis - hereditaries; Amyloidosis hereditary; Familial Amyloidoses; Hereditary Amyloidoses; Amyloidosis, Hereditary

Networked: 322 relevant articles (1 outcomes, 15 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Polyneuropathies (Polyneuropathy)
2.	Intractable Pain
3.	Amyloidosis
4.	Amyloid Plaque
5.	Anemia

Experts

1.	Kelly, Jeffery W: 11 articles (11/2013 - 07/2003)
2.	Ando, Yukio: 10 articles (09/2015 - 11/2002)
3.	Beirão, Idalina: 8 articles (01/2015 - 03/2007)
4.	Balch, William E: 7 articles (05/2012 - 11/2003)
5.	Hawkins, Philip N: 6 articles (06/2014 - 06/2002)
6.	Torres, Paulo: 5 articles (01/2015 - 07/2011)
7.	Lobato, Luísa: 5 articles (01/2015 - 05/2003)
8.	Ueda, Mitsuharu: 5 articles (01/2015 - 01/2008)
9.	Obici, Laura: 5 articles (01/2015 - 05/2004)
10.	Page, Lesley J: 5 articles (05/2012 - 11/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Amyloidosis:

1.	Bupivacaine (Bupivacaine Hydrochloride)FDA LinkGeneric 10/01/1998 - "Long-Term Intrathecal (IT) Administration of Opioid and Bupivacaine Relieved Intractable Pain in a Patient with Familial Amyloidosis Polyneuropathy: A Case Report(1)."
2.	Amyloid (Amyloid Fibrils)IBA 06/01/2006 - "Although classification of AA, AApoAI, ALys, ALac, and ATTR amyloids is relatively straightforward, classification of AL amyloid and rare hereditary amyloidoses is a serious obstacle and sometimes even impossible when conclusive clinical information or additional protein biochemical or molecular biologic studies are not available." 05/01/2014 - "Unlike other forms of hereditary amyloidosis, this rare type displays amyloid deposition predominantly in the eyes and central nervous system. " 07/01/2009 - "The kidneys are one of the most frequent sites of amyloid deposition during systemic AL, AA, and several hereditary amyloidoses. " 12/01/2006 - "The kidney is one of the most frequent sites of amyloid deposition in AL, AA, and several of the hereditary amyloidoses. " 05/01/2003 - "Hereditary amyloidosis is uncommon, but its precise characterization has major implications for patient management and genetic counseling, and it has been an extremely valuable model for elucidating the pathogenesis of amyloid deposition generally. "
3.	Prealbumin (Transthyretin)IBA 01/01/1997 - "The study of pathogenic and nonpathogenic transthyretin (TTR) variants is very important for the understanding of such TTR-related diseases as hereditary amyloidosis and also to establish a relationship between the structure and function of the molecule. " 10/01/2015 - "Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretin-related familial amyloidosis." 09/08/2015 - "Transthyretin (TTR) is an amyloidogenic tetrameric protein, present in human plasma, associated with several familial amyloidoses. " 03/01/2015 - "Based on myocardial biopsy and genetic tests, the diagnosis of transthyretin familial amyloidosis, secondary to the Glu54Gln gene mutation, was made. " 01/01/2015 - "Transthyretin (TTR) is a homotetrameric protein involved in human hereditary amyloidoses. "
4.	GelsolinIBA 12/01/2003 - "Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies." 09/26/2000 - "Elucidating the mechanism of familial amyloidosis- Finnish type: NMR studies of human gelsolin domain 2." 08/01/2012 - "Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type." 07/01/2011 - "This is the first report of gelsolin-related familial amyloidosis in a Brazilian family, and the result is particularly significant as this pedigree presents an unusual mutation, described previously in three families, with no known Finnish ancestors (Danish type)." 08/18/2009 - "The G2 Ca-binding site is mutated in gelsolin from familial amyloidosis (Finnish-type) patients. "
5.	AntibodiesIBA 12/01/2009 - "For this reason we started several years ago to search specifically for hereditary amyloidoses by improving the immunohistochemical classification of amyloid with new antibodies and by applying molecular biology. " 04/01/1991 - "Antibodies to a dodecapeptide of the amyloidogenic region of gelsolin specifically stain the tissue amyloid deposits in Finnish hereditary amyloidosis. " 06/01/1990 - "Immunohistochemical studies of six patients with familial amyloidosis, Finnish type, showed that their amyloid deposits did not react with polyclonal antibodies against the amyloid proteins of other, established forms of systemic or cerebral amyloidosis. " 11/14/1990 - "Antibodies raised against the amyloidogenic region of gelsolin specifically stained the amyloid deposited in tissues in familial amyloidosis type IV. The results show that the subunit amyloid protein in familial amyloid polyneuropathy type IV represents a unique type of amyloid derived from a variant (Asn-187) gelsolin molecule by limited proteolysis." 03/01/1991 - "Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides."
6.	Codon (Codons)IBA 03/15/2001 - "A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene." 04/01/2000 - "Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47." 03/01/2003 - "Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome." 04/01/1997 - "Molecular genetic studies revealed a heterozygous codon 55 point mutation, resulting in a proline for leucine-substitution, a mutation previously associated with aggressive familial amyloidosis in a US kindred of Dutch and German descent. " 02/01/1992 - "Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay."
7.	PeptidesIBA 07/01/2014 - "The assay reveals the underlying pathogenesis by identifying variable gene usage in immunoglobulin light chains and the variant peptides in hereditary amyloidosis. " 12/07/2005 - "Amyloid diseases like Alzheimer's disease and familial amyloidosis of Finnish type (FAF) stem from endoproteolytic cleavage of a precursor protein to generate amyloidogenic peptides that accumulate as amyloid deposits in a tissue-specific manner. " 03/01/1991 - "Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides." 09/04/1995 - "In the present study, we show for the first time that apoE, isolated from human plasma, increases fibril formation of synthetic peptides comprising the amyloidogenic sequences of gelsolin amyloid related to familial amyloidosis Finnish type, and amyloid A found in secondary amyloidosis and familial Mediterranean fever. " 09/01/1996 - "In familial amyloidosis of the Finnish type (FAF), or gelsolin-related amyloidosis, the amyloid subunit protein consists of gelsolin peptides of amino acids 173-243 with the disease causing substitution at Asp187. "
8.	Amyloidogenic ProteinsIBA 12/01/2012 - "Familial amyloidoses are a group of inherited disorders that cause deposition of misfolded amyloidogenic proteins in various tissues, resulting in organ dysfunction. " 06/01/1990 - "Immunohistochemical studies of six patients with familial amyloidosis, Finnish type, showed that their amyloid deposits did not react with polyclonal antibodies against the amyloid proteins of other, established forms of systemic or cerebral amyloidosis. " 07/07/1978 - "Morphological, ultrastructural, biochemical and immunochemical research has shown that: 1) amyloid is a fibrillar protein with a typical EM and X-ray diffraction appearance; 2) two main types of amyloid proteins exist, one related to Ig light chains and found in primary forms and in association with myeloma, the other (called AA proteins) being the main component of secondary forms and certain types of familial amyloidosis; 3) serum proteins structurally related to the AA proteins may be used as amyloid precursors. " 09/01/2003 - "Other amyloid proteins involved in familial CAAs include 1) the mutant cystatin C (ACys) in hereditary cerebral hemorrhage with amyloidosis of Icelandic type, 2) variant transthyretins (ATTR) in meningo-vascular amyloidoses, 3) mutated gelsolin (AGel) in familial amyloidosis of Finnish type, 4) disease-associated prion protein (PrP(Sc)) in a variant of the Gerstmann-Sträussler-Scheinker syndrome, and 5) ABri and ADan in CAAs observed in the recently described BRI2 gene-related dementias, familial British dementia and familial Danish dementia, respectively. "
9.	Congo RedIBA 10/01/2013 - "The presence of serum amyloid A protein was confirmed by laser microdissection of Congo Red-positive glomeruli and vessels followed by liquid chromatography and tandem mass spectrometry; this analysis excluded hereditary and familial amyloidosis. " 07/01/2011 - "Laser microdissection of the Congo-red-positive glomeruli and vessels followed by liquid chromatography and tandem mass spectrometry confirmed the presence of serum amyloid A (SAA) protein and ruled out hereditary and familial amyloidosis. " 10/01/1979 - "The affinity of amyloid for Congo red after incubation with potassium permanganate did not change in patients with myeloma-associated amyloidosis, familial amyloidotic polyneuropathy, medullary carcinoma of the thyroid, pancreatic island amyloid, and cerebral amyloidosis. " 01/01/1989 - "As in the other forms of familial amyloidosis, potassium permanganate treatment did not modify the Congo red affinity of amyloid deposits and immunocytochemical studies revealed that the amyloid reacted with antibodies against prealbumin."
10.	FurinIBA 12/01/2003 - "Recent studies have shown that proteolysis by furin during secretion initiates both variant gelsolin amyloidogenesis, associated with the disease familial amyloidosis of Finnish type, and Pmel17 fiber formation, which is necessary for the functional biogenesis of melanosomes. " 11/14/2003 - "Gelsolin domain 2 Ca2+ affinity determines susceptibility to furin proteolysis and familial amyloidosis of finnish type." 11/15/2001 - "Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization."

Therapies and Procedures

1.	Liver Transplantation 07/01/2013 - "Modified body mass index and time interval between diagnosis and operation affect survival after liver transplantation for hereditary amyloidosis: a single-center analysis." 12/01/2012 - "In the case of the hereditary amyloidosis, major surgery in the form of liver transplantation is usually required. " 09/01/2007 - "Few cases of combined heart and liver transplantation (CHLT) have been reported for familial amyloidosis. " 04/01/2007 - "Combined cardiac and liver transplantation for the treatment of familial amyloidosis." 09/10/2006 - "[Liver transplantation for familial amyloidosis]."
2.	Transplants (Transplant) 09/01/2015 - "Liver transplantation was evaluated in a 20-year retrospective analysis of the Familial Amyloidosis Polyneuropathy World Transplant Registry. " 03/01/2015 - "In these conditions, renal transplantation is combined with the liver (primary hyperoxaluria) or cardiac transplant (familial amyloidosis) improving the quality and life expectancy of patients. " 01/01/2015 - "In these conditions, renal transplantation is combined with the liver (primary hyperoxaluria) or cardiac transplant (familial amyloidosis) improving the quality and life expectancy of patients. " 05/01/2004 - "A recent technique called sequential transplant or domino liver transplant (DLT) allows the transplantation of a patient with chronic liver disease by implantation of a full-size liver derived from a patient with familial amyloidosis polyneuropathy (FAP) who receives a cadaveric graft. "
3.	Kidney Transplantation 05/01/2003 - "End-stage renal disease in familial amyloidosis ATTR Val30Met: a definitive indication to combined liver-kidney transplantation." 03/01/2015 - "In these conditions, renal transplantation is combined with the liver (primary hyperoxaluria) or cardiac transplant (familial amyloidosis) improving the quality and life expectancy of patients. " 01/01/2015 - "In these conditions, renal transplantation is combined with the liver (primary hyperoxaluria) or cardiac transplant (familial amyloidosis) improving the quality and life expectancy of patients. " 01/01/1986 - "Renal transplantation was performed in five patients with various forms of amyloidosis (familial amyloidosis, Mediterranean fever and Crohn's disease). "
4.	Transplantation (Transplant Recipients) 01/01/2015 - "Familial amyloidosis was the indication for 21 CHLTs (78%), and 12 of these explanted livers were used for domino transplantations. " 05/01/2004 - "A recent technique called sequential transplant or domino liver transplant (DLT) allows the transplantation of a patient with chronic liver disease by implantation of a full-size liver derived from a patient with familial amyloidosis polyneuropathy (FAP) who receives a cadaveric graft. " 03/01/2006 - "Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene." 07/01/2007 - "Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation."
5.	Organ Transplantation 06/01/2012 - "Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses." 06/01/2012 - "Nephrotic syndrome and renal impairment due to renal amyloidosis are common disease manifestations; however, recent research provides evidence to support a more diverse and systemic disease phenotype, which in turn has implications in the management of the hereditary amyloidoses with solid organ transplantation and, in particular, liver transplantation." 05/01/2011 - "Double organ transplantation (liver/kidney; heart/kidney), chemotherapy, and autologous stem cell transplantation may be considered in particular cases of amyloidosis, such as hereditary amyloidosis or multiple myeloma. "