Familial amyloidosis history and symptoms

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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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