Familial amyloidosis history and symptoms: Difference between revisions

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{{Familial amyloidosis}}
{{Familial amyloidosis}}


{{CMG}}; {{AE}} {{F.K}}
{{CMG}}; {{AE}} {{Fs}}, {{F.K}}, {{Sab}}
==Overview==
==Overview==
Common [[symptoms]] of familial amyloidosis include [[abdominal pain]], [[edema]],[[enlarged tongue]], skin and nail changes. Less common [[symptoms]] of amyloidosis include [[Gastrointestinal bleeding|gastrointestinal bleeding, gross]] [[hematuria]], [[hoarseness]] and [[paresthesias]].  
Common [[symptoms]] of familial amyloidosis include [[Paresthesia|tingling]], [[muscle weakness]], [[abdominal pain]], [[edema|body swelling]], [[enlarged tongue]], [[fatigue]], and [[skin]] and [[Nail (anatomy)|nail]] changes. Less common [[symptoms]] of familial amyloidosis include [[Gastrointestinal bleeding|blood in the vomitus or stool,]] [[Hematuria|blood in urine]], and [[Hoarseness|change in voice]].  


==History and Symptoms==
==History and Symptoms==
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===History===
===History===
Patients with amyloidosis may have a positive history of:<ref name="pmid24497558">{{cite journal |vauthors=Mahmood S, Palladini G, Sanchorawala V, Wechalekar A |title=Update on treatment of light chain amyloidosis |journal=Haematologica |volume=99 |issue=2 |pages=209–21 |date=February 2014 |pmid=24497558 |pmc=3912950 |doi=10.3324/haematol.2013.087619 |url=}}</ref>
[[Patient|Patients]] with amyloidosis may have a positive history of:<ref name="pmid24497558">{{cite journal |vauthors=Mahmood S, Palladini G, Sanchorawala V, Wechalekar A |title=Update on treatment of light chain amyloidosis |journal=Haematologica |volume=99 |issue=2 |pages=209–21 |date=February 2014 |pmid=24497558 |pmc=3912950 |doi=10.3324/haematol.2013.087619 |url=}}</ref>
*[[Dyspnea]]
*[[Dyspnea]]
*[[Lethargy]]
*[[Lethargy]]
Line 17: Line 17:
*[[Fevers]] or [[chills]]
*[[Fevers]] or [[chills]]
*[[Night sweats]]
*[[Night sweats]]
*Positive [[family history]] of amyloidosis
*Male gender
* African American race


===Common Symptoms===
===Common Symptoms===
Common [[symptoms]] of familial amyloidosis include:<ref name="pmid26161016">{{cite journal |vauthors=Lim AY, Lee JH, Jung KS, Gwag HB, Kim DH, Kim SJ, Lee GY, Kim JS, Kim HJ, Lee SY, Lee JE, Jeon ES, Kim K |title=Clinical features and outcomes of systemic amyloidosis with gastrointestinal involvement: a single-center experience |journal=Korean J. Intern. Med. |volume=30 |issue=4 |pages=496–505 |date=July 2015 |pmid=26161016 |pmc=4497337 |doi=10.3904/kjim.2015.30.4.496 |url=}}</ref><ref name="pmid23227278">{{cite journal |vauthors=Baker KR, Rice L |title=The amyloidoses: clinical features, diagnosis and treatment |journal=Methodist Debakey Cardiovasc J |volume=8 |issue=3 |pages=3–7 |date=2012 |pmid=23227278 |pmc=3487569 |doi= |url=}}</ref>
 
==== ATTR familial amyloidosis ====
 
*[[Paresthesia|Tingling]]
*[[Muscle weakness]]
*[[Sexual problems]]
*[[Constipation]]/[[diarrhea]]
*[[Urinary system|Urinary]] problems
*[[Weakness]]
*[[Fatigue]]
*[[Edema|Body swelling]]
*[[Palpitation]]
*[[Dizziness]]
 
==== Apolipoprotein AI Familial Amyloidosis<ref name="pmid4304452">{{cite journal |vauthors=Van Allen MW, Frohlich JA, Davis JR |title=Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer |journal=Neurology |volume=19 |issue=1 |pages=10–25 |date=January 1969 |pmid=4304452 |doi=10.1212/wnl.19.1.10 |url=}}</ref><ref name="pmid10198255">{{cite journal |vauthors=Hamidi Asl K, Liepnieks JJ, Nakamura M, Parker F, Benson MD |title=A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis |journal=Biochem. Biophys. Res. Commun. |volume=257 |issue=2 |pages=584–8 |date=April 1999 |pmid=10198255 |doi=10.1006/bbrc.1999.0518 |url=}}</ref> ====
 
*[[Paresthesia|Tingling]]
*[[Edema|Body swelling]]
*[[Skin lesions]]
*[[Hoarseness|Difficulty speaking]]
*[[Cough]]
 
==== Gesolin Familial Amyloidosis<ref name="pmid4313418">{{cite journal |vauthors=Meretoja J |title=Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome |journal=Ann. Clin. Res. |volume=1 |issue=4 |pages=314–24 |date=December 1969 |pmid=4313418 |doi= |url=}}</ref> ====
 
*[[Visual system|Vision]] problems
* Droopy appearance of [[face]], [[neck]], and [[Axilla|armpit]]
*[[Paresthesia|Tingling]] of [[face]]
*[[Drooling]] or [[slurred speech]]
 
==== Lysozyme Familial Amyloidosis<ref name="pmid26161016">{{cite journal |vauthors=Lim AY, Lee JH, Jung KS, Gwag HB, Kim DH, Kim SJ, Lee GY, Kim JS, Kim HJ, Lee SY, Lee JE, Jeon ES, Kim K |title=Clinical features and outcomes of systemic amyloidosis with gastrointestinal involvement: a single-center experience |journal=Korean J. Intern. Med. |volume=30 |issue=4 |pages=496–505 |date=July 2015 |pmid=26161016 |pmc=4497337 |doi=10.3904/kjim.2015.30.4.496 |url=}}</ref><ref name="pmid23227278">{{cite journal |vauthors=Baker KR, Rice L |title=The amyloidoses: clinical features, diagnosis and treatment |journal=Methodist Debakey Cardiovasc J |volume=8 |issue=3 |pages=3–7 |date=2012 |pmid=23227278 |pmc=3487569 |doi= |url=}}</ref> ====
 
* [[Fatigue]]
* [[Fatigue]]
* [[Weight loss]]
*[[Weight loss]]
* [[Edema]]
*[[Edema]]
*[[Abdominal pain]]
 
*[[Enlarged tongue]]
==== Cystatin C Familial Amyloidosis<ref name="pmid4655034">{{cite journal |vauthors=Gudmundsson G, Hallgrímsson J, Jónasson TA, Bjarnason O |title=Hereditary cerebral haemorrhage with amyloidosis |journal=Brain |volume=95 |issue=2 |pages=387–404 |date=1972 |pmid=4655034 |doi=10.1093/brain/95.2.387 |url=}}</ref><ref name="pmid3707586">{{cite journal |vauthors=Ghiso J, Pons-Estel B, Frangione B |title=Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases |journal=Biochem. Biophys. Res. Commun. |volume=136 |issue=2 |pages=548–54 |date=April 1986 |pmid=3707586 |doi=10.1016/0006-291x(86)90475-4 |url=}}</ref> ====
*Skin and nail changes
 
*[[Incoordination|Balance problems]]
*[[Headache]]
* Increase [[head]] size
*[[Seizure|Seizures]]
*[[Intellectual disability|Loss of intellectual function]]
 
==== Fibrinogen Aa-chain Familial Amyloidosis<ref name="pmid10825402">{{cite journal |vauthors=Gillmore JD, Booth DR, Rela M, Heaton ND, Rahman V, Stangou AJ, Pepys MB, Hawkins PN |title=Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family |journal=QJM |volume=93 |issue=5 |pages=269–75 |date=May 2000 |pmid=10825402 |doi=10.1093/qjmed/93.5.269 |url=}}</ref> ====
 
*[[Headache]]
*[[Edema|Body swelling]]
*[[Fatigue]]
 
==== Apolipoprotein AII Familial Amyloidosis<ref name="pmid4728894">{{cite journal |vauthors=Weiss SW, Page DL |title=Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells |journal=Am. J. Pathol. |volume=72 |issue=3 |pages=447–60 |date=September 1973 |pmid=4728894 |pmc=1904021 |doi= |url=}}</ref> ====
 
*[[Edema|Body swelling]]
*[[Fatigue]]


===Less Common Symptoms===
===Less Common Symptoms===
Less common [[symptoms]] of familial amyloidosis include:<ref name="pmid10228037">{{cite journal |vauthors=Hamidi Asl K, Liepnieks JJ, Nakamura M, Benson MD |title=Organ-specific (localized) synthesis of Ig light chain amyloid |journal=J. Immunol. |volume=162 |issue=9 |pages=5556–60 |date=May 1999 |pmid=10228037 |doi= |url=}}</ref>
Less common [[symptoms]] of familial amyloidosis include:<ref name="pmid10228037">{{cite journal |vauthors=Hamidi Asl K, Liepnieks JJ, Nakamura M, Benson MD |title=Organ-specific (localized) synthesis of Ig light chain amyloid |journal=J. Immunol. |volume=162 |issue=9 |pages=5556–60 |date=May 1999 |pmid=10228037 |doi= |url=}}</ref>
*[[Hoarseness]]
*[[Hoarseness|Voice change]]
*[[Gastrointestinal bleeding]]
*[[Gastrointestinal bleeding|Blood in the vomitus or stool]]
*[[Diarrhea]]
*[[Diarrhea]]
*Paresthesias
*[[Hematuria|Blood in urine]]
*Gross [[hematuria]]
*Irritative [[urinary symptoms]]
*Irritative [[urinary symptoms]]


Latest revision as of 20:31, 7 February 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D., Farima Kahe M.D. [2], Sabawoon Mirwais, M.B.B.S, M.D.[3]

Overview

Common symptoms of familial amyloidosis include tingling, muscle weakness, abdominal pain, body swelling, enlarged tongue, fatigue, and skin and nail changes. Less common symptoms of familial amyloidosis include blood in the vomitus or stool, blood in urine, and change in voice.

History and Symptoms

Common symptoms of familial amyloidosis include abdominal pain, edema and enlarged tongue. Less common symptoms of amyloidosis include gastrointestinal bleeding, gross hematuria, hoarseness and paresthesias.

History

Patients with amyloidosis may have a positive history of:[1]

Common Symptoms

ATTR familial amyloidosis

Apolipoprotein AI Familial Amyloidosis[2][3]

Gesolin Familial Amyloidosis[4]

Lysozyme Familial Amyloidosis[5][6]

Cystatin C Familial Amyloidosis[7][8]

Fibrinogen Aa-chain Familial Amyloidosis[9]

Apolipoprotein AII Familial Amyloidosis[10]

Less Common Symptoms

Less common symptoms of familial amyloidosis include:[11]

References

  1. ↑ Mahmood S, Palladini G, Sanchorawala V, Wechalekar A (February 2014). "Update on treatment of light chain amyloidosis". Haematologica. 99 (2): 209–21. doi:10.3324/haematol.2013.087619. PMC 3912950. PMID 24497558.
  2. ↑ Van Allen MW, Frohlich JA, Davis JR (January 1969). "Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer". Neurology. 19 (1): 10–25. doi:10.1212/wnl.19.1.10. PMID 4304452.
  3. ↑ Hamidi Asl K, Liepnieks JJ, Nakamura M, Parker F, Benson MD (April 1999). "A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis". Biochem. Biophys. Res. Commun. 257 (2): 584–8. doi:10.1006/bbrc.1999.0518. PMID 10198255.
  4. ↑ Meretoja J (December 1969). "Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome". Ann. Clin. Res. 1 (4): 314–24. PMID 4313418.
  5. ↑ Lim AY, Lee JH, Jung KS, Gwag HB, Kim DH, Kim SJ, Lee GY, Kim JS, Kim HJ, Lee SY, Lee JE, Jeon ES, Kim K (July 2015). "Clinical features and outcomes of systemic amyloidosis with gastrointestinal involvement: a single-center experience". Korean J. Intern. Med. 30 (4): 496–505. doi:10.3904/kjim.2015.30.4.496. PMC 4497337. PMID 26161016.
  6. ↑ Baker KR, Rice L (2012). "The amyloidoses: clinical features, diagnosis and treatment". Methodist Debakey Cardiovasc J. 8 (3): 3–7. PMC 3487569. PMID 23227278.
  7. ↑ Gudmundsson G, Hallgrímsson J, Jónasson TA, Bjarnason O (1972). "Hereditary cerebral haemorrhage with amyloidosis". Brain. 95 (2): 387–404. doi:10.1093/brain/95.2.387. PMID 4655034.
  8. ↑ Ghiso J, Pons-Estel B, Frangione B (April 1986). "Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases". Biochem. Biophys. Res. Commun. 136 (2): 548–54. doi:10.1016/0006-291x(86)90475-4. PMID 3707586.
  9. ↑ Gillmore JD, Booth DR, Rela M, Heaton ND, Rahman V, Stangou AJ, Pepys MB, Hawkins PN (May 2000). "Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family". QJM. 93 (5): 269–75. doi:10.1093/qjmed/93.5.269. PMID 10825402.
  10. ↑ Weiss SW, Page DL (September 1973). "Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells". Am. J. Pathol. 72 (3): 447–60. PMC 1904021. PMID 4728894.
  11. ↑ Hamidi Asl K, Liepnieks JJ, Nakamura M, Benson MD (May 1999). "Organ-specific (localized) synthesis of Ig light chain amyloid". J. Immunol. 162 (9): 5556–60. PMID 10228037.

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