Classic facial features of AL amyloidosis with bleeding under the skin (bruising) around the eyes[1]
Specialty
Internal Medicine
Symptoms
Feeling tired, weight loss, swelling of the legs, shortness of breath, bleeding, feeling light headed with standing[2]
Usual onset
55–65 years old[2]
Causes
Genetic or acquired[3]
Diagnostic method
Tissue biopsy[2]
Treatment
Supportive care, directed at the underlying cause, dialysis, organ transplantation[3]
Prognosis
Improved with treatment[3]
Frequency
3–13 per million per year (AL amyloidosis)[2]
Deaths
1 per 1,000 people (developed world)[3]
Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue.[4] There are several non-specific and vague signs and symptoms associated with amyloidosis.[5] These include fatigue, peripheral edema, weight loss, shortness of breath, palpitations, and feeling faint with standing.[5] In AL amyloidosis, specific indicators can include enlargement of the tongue and periorbital purpura.[5] In wild-type ATTR amyloidosis, non-cardiac symptoms include: bilateral carpal tunnel syndrome, lumbar spinal stenosis, biceps tendon rupture, small fiber neuropathy, and autonomic dysfunction.[5]
There are about 36 different types of amyloidosis, each due to a specific protein misfolding.[6] Within these 36 proteins, 19 are grouped into localized forms, 14 are grouped as systemic forms, and three proteins can identify as either.[6] These proteins can become irregular due to genetic effects, as well as through acquired environmental factors.[6] The four most common types of systemic amyloidosis are light chain (AL), inflammation (AA), dialysis-related (Aβ2M), and hereditary and old age (ATTR and wild-type transthyretin amyloid[7]).[2]
Diagnosis may be suspected when protein is found in the urine, organ enlargement is present, or problems are found with multiple peripheral nerves and it is unclear why.[2] Diagnosis is confirmed by tissue biopsy.[2] Due to the variable presentation, a diagnosis can often take some time to reach.[3]
Treatment is geared towards decreasing the amount of the involved protein.[2] This may sometimes be achieved by determining and treating the underlying cause.[2] AL amyloidosis occurs in about 3–13 per million people per year and AA amyloidosis in about two per million people per year.[2] The usual age of onset of these two types is 55 to 60 years old.[2] Without treatment, life expectancy is between six months and four years.[2] In the developed world about one per 1,000 deaths are from systemic amyloidosis.[3] Amyloidosis has been described since at least 1639.[2]
^Hawkins P (29 April 2015). "AL amyloidosis". Wikilite.com. Archived from the original on 22 December 2015. Retrieved 19 December 2015.
^ abcdefghijklmHazenberg BP (May 2013). "Amyloidosis: a clinical overview" (PDF). Rheumatic Disease Clinics of North America. 39 (2): 323–345. doi:10.1016/j.rdc.2013.02.012. PMID 23597967. S2CID 215069282.
^"AL amyloidosis". rarediseases.info.nih.gov. Genetic and Rare Diseases Information Center (GARD). Archived from the original on 24 April 2017. Retrieved 22 April 2017.
^ abcdCite error: The named reference Gertz_2020 was invoked but never defined (see the help page).
^ abcPicken MM (2020). "The Pathology of Amyloidosis in Classification: A Review". Acta Haematologica. 143 (4): 322–334. doi:10.1159/000506696. PMID 32392555. S2CID 218600304.
^Ando Y, Coelho T, Berk JL, Cruz MW, Ericzon BG, Ikeda S, et al. (February 2013). "Guideline of transthyretin-related hereditary amyloidosis for clinicians". Orphanet Journal of Rare Diseases. 8: 31. doi:10.1186/1750-1172-8-31. PMC 3584981. PMID 23425518.
standing. In AL amyloidosis, specific indicators can include enlargement of the tongue and periorbital purpura. In wild-type ATTR amyloidosis, non-cardiac...
Cardiac amyloidosis is a subcategory of amyloidosis where there is depositing of the protein amyloid in the cardiac muscle and surrounding tissues. Amyloid...
AA amyloidosis is a form of amyloidosis, a disease characterized by the abnormal deposition of fibers of insoluble protein in the extracellular space of...
Amyloid light-chain (AL) amyloidosis, also known as primary amyloidosis, is the most common form of systemic amyloidosis. The disease is caused when a...
Edison J, Baethge BA, Jacobson DR (10 October 2018). "Amyloidosis: Definition of Amyloid and Amyloidosis, Classification Systems, Systemic Amyloidoses". Medscape...
Heredofamilial amyloidosis is an inherited condition that may be characterized by systemic or localized deposition of amyloid in body tissues.: 522 Amyloidosis List...
Primary cutaneous amyloidosis is a form of amyloidosis associated with oncostatin M receptor. This type of amyloidosis has been divided into the following...
LECT2 Amyloidosis (ALECT2) is a form of amyloidosis caused by the LECT2 protein. It was found to be the third most common (~3% of total) cause of amyloidosis...
polyneuropathy, as well as wild-type transthyretin amyloidosis, which formerly was called senile systemic amyloidosis. It works by stabilizing the quaternary structure...
types of plasma cell dyscrasia-associated amyloidosis syndromes: amyloid light chain amyloidosis (AL amyloidosis) in which amyloid deposits consist of free...
by a similar mechanism, including Aβ amyloidosis, amyloid A (AA) amyloidosis, and apolipoprotein AII amyloidosis, tauopathy, synucleinopathy, and the...
polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de...
fossa. Raccoon eyes may also be a sign of disseminated neuroblastoma, amyloidosis, Kaposi’s sarcoma or multiple myeloma. It also can be temporary result...
immunoglobulin-induced renal amyloidosis (e.g. AL amyloidosis) represented 86% of the cases). Hereditary fibrinogen Aα-Chain amyloidosis is, however, the most...
Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney. It is associated most commonly with congenital mutations in the...
to chromosome 5q. type II or Finnish type amyloidosis: associated with manifestations of systemic amyloidosis due to accumulation of gelsolin. Associated...
seen in nonsecretory multiple myeloma and amyloid light chain amyloidosis (AL amyloidosis). The Bence Jones protein was described by the English physician...
transthyretin-mediated amyloidosis. It is a transthyretin-directed antisense oligonucleotide. It was developed to treat hereditary transthyretin amyloidosis by Ionis...
In anatomy, the meninges (/məˈnɪndʒiːz/, sg.: meninx (/ˈmiːnɪŋks/ or /ˈmɛnɪŋks/), from Ancient Greek μῆνιγξ (mēninx) 'membrane') are the three membranes...
English footballer (Manchester City, Brighton, Sheffield Wednesday), amyloidosis. Tahnoun bin Mohammed Al Nahyan, 82, Emirati royal and politician, ruler's...
biggest risk factors for spontaneous bleeding are high blood pressure and amyloidosis. Other risk factors include alcoholism, low cholesterol, blood thinners...
hide as well as display other 'shy' behaviour. Familial renal amyloidosis or AA amyloidosis, a kidney disorder due to a mutation in the AA amyloid protein...
Pedro Pinho e. (eds.). Amyloid and amyloidosis: proceedings of the Third International Symposium on Amyloidosis, Póvoa de Varzim, Portugal, 23–28 September...
in 1977. York announced he was suffering from the rare disease called amyloidosis in 2013. Doctors initially thought he had bone cancer. He underwent a...
Global Information