Edit concept Question Editor Create issue ticket

Non-Neuropathic Heredofamilial Amyloidosis

Familial Non-Neuropathic Amyloidosis


Presentation

  • Difficult concepts are clarified, using simple diagrams to explain the link between pathology and clinical presentation.[books.google.com]
  • PDF Merrill Benson and Isis Presentation PDF Teresa M Kruisselbrink, CGC Presentation PDF A.K.[amyloidosissupport.org]
  • Hereditary amyloid polyneuropathies are classified in four types based on clinical presentation.[japi.org]
  • 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]
  • Diagnosis is based on clinical presentation, amyloid deposition on tissue biopsy, and the diagnostic hallmark TTR mutation on genetic testing.[ng.neurology.org]
Chills
  • Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin.[icd.codes]
  • The most dreadful in this category is surely the spine-chilling glioblastoma multiforme.[theneurologylounge.com]
Rigor
  • Throughout, the approach of OTM is humane and ethical and, at the same time, factual, reliable, honest(especially where knowledge is limited) and rigorously scientific. This is not just a textbook of "First World" medicine.[books.google.com]
Upper Abdominal Pain
  • Co-primary end points were NIS-LL response to treatment ( Tafamidis appeared to be safe and well tolerated; treatment-related adverse events included diarrhea, upper abdominal pain, urinary tract infection, and vaginal infection.[ojrd.biomedcentral.com]
Hepatosplenomegaly
  • Clinically they are characterized by renal involvement with nephrotic syndrome, hypertension, hepatosplenomegaly, petechial rash and cholestasis.[ivami.com]
  • Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.[uniprot.org]
  • Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. Sequence similarities Belongs to the apolipoprotein A1/A4/E family.[abcam.com]
  • Chronic weakness, edema, proteinuria, and hepatosplenomegaly were features. McKusick (1974) followed up on the family reported by Maxwell and Kimbell (1936).[genome.jp]
Urticaria
  • MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes[icd.codes]
  • Cerebrovascular amyloidosis Conjunctival amyloidosis Cutaneous amyloidosis Danish type familial amyloid cardiomyopathy Dilated cardiomyopathy secondary to amyloidosis Dominant primary localized cutaneous amyloidosis Familial amyloid nephropathy with urticaria[emedcodes.com]
  • […] effusions& pain Myelopathy β 2 -microglobulin Amyloidosis, renal (ALys) Renal Visceral Lysozyme (LYZ) AApoAIIRenalApolipoprotein A II (APOA2) AApoCIIRenalApolipoprotein C II (APOC2) AApoCIIIRenalApolipoprotein C III (APOC3) Muckle-Wells syndrome Cold urticaria[neuromuscular.wustl.edu]
  • Although some features of the family of Maxwell and Kimbell (1936) are similar to those of urticaria, deafness and amyloidosis ( 191900 ), no deafness was present in their family.[genome.jp]
Long Arm
  • The APOA1 gene, located on the long arm of chromosome 11 (11q23-q24), encoding apolipoprotein A-1 (apoA-I), the main component of high density lipoproteins (HDL) plasma.[ivami.com]
  • Its gene is located on the long arm of chromosome 18 and contains 4 exons and 3 introns. [5] The systemic amyloidoses are designated by a capital A (for amyloid) followed by the abbreviation for the chemical identity of the fibril protein.[emedicine.medscape.com]
Neonate-Onset
  • MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes[icd.codes]
  • Cryopyrin-associated periodic syndrome-associated amyloidosis (CAPS) includes familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID).[patient.info]

Workup

  • 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]

Treatment

  • Following a question-answer approach, including self-assessment material and a ‘refresher’ section on the basic science of this clinical area, Nephrology: Clinical Cases Uncovered features investigations and the treatment options available for patients[books.google.com]
  • Importantly, patisiran administration continues to be generally well tolerated out to 21 months of treatment.[pharmaceuticalintelligence.com]
  • 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]

Prognosis

  • 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]
  • 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]
  • 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]

Etiology

  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • 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]
  • Etiology FAP is transmitted as an autosomal dominant trait and is caused by mutations in the TTR gene (18q12.1).[orpha.net]
  • In light of failed medicines, cardiologists have refocused treatment strategies based on the theory that HFPEF is a heterogeneous clinical syndrome with different etiologies.[pharmaceuticalintelligence.com]

Epidemiology

  • […] 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]
  • 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]
  • Epidemiology Amyloidosis is a rare disease.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • There are major introductory sections on the scientific basis of disease; and in the system-based clinical sections genetic predisposition, pathophysiology, pathogenesis, molecular mechanisms, and cell biology are covered in depth for all significant[books.google.com]
  • 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]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test The amyloidoses are a group of diseases that result from the abnormal deposition of amyloid in various tissues of the body.[mayomedicallaboratories.com]
  • 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 marked increase of refractoriness at short-width stimulus suggests a defect in sodium current which may represent an early, pre-symptomatic pathophysiological change in TTR-FAP.[journals.plos.org]

Prevention

  • It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders.[books.google.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]
  • Treatment Treatment of amyloid neuropathies is directed at both preventing further deposition of amyloid in peripheral nerves and treating painful symptoms.[hopkinsmedicine.org]
  • 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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!