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]
Overview
Common symptoms of familial amyloidosis include abdominal pain, edema,enlarged tongue, skin and nail changes. Less common symptoms of amyloidosis include gastrointestinal bleeding, gross hematuria, hoarseness and paresthesias.
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]
- Dyspnea
- Lethargy
- Weight loss
- Chest discomfort
- Fevers or chills
- Night sweats
- Positive family history of amyloidosis
- Male gender
- African american race
Common Symptoms
Common symptoms of ATTR familial amyloidosis include:
- Parasthesia
- Muscle weakness
- Sexual problems
- Constipation/ diarrhea
- Urination problems
- Weakness
- Fatigue
- Edema
- Palpitation
- Dizziness
Common symptoms of Apolipoprotein AI familial amyloidosis include:[2][3]
- Parasthesia
- Edema
- Cutaneous lesions
- Hoarseness
- Cough
Common symptoms of Gesolin familial amyloidosis include:[4]
- Vision problems
- Droopy appearance of face, neck, and armpitt
- A tingling sensation in face
- Drooling or slurred speech
Common symptoms of Lysozyme familial amyloidosis include:[5][6]
Common symptoms of Cystatin C familial amyloidosis include:[7][8]
- Balance problems
- Headache
- Increase head size
- Seizures
- Loss of intellectual function
Common symptoms of Fibrinogen Aa-chain familial amyloidosis include:[9]
- Hypertension
- Edema
- Fatigue
Common symptoms of Apolipoprotein AII familial amyloidosis include:[10]
- Edema
- Fatigue
Less Common Symptoms
Less common symptoms of familial amyloidosis include:[11]
- Hoarseness
- Gastrointestinal bleeding
- Diarrhea
- Paresthesias
- Gross hematuria
- Irritative urinary symptoms
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Baker KR, Rice L (2012). "The amyloidoses: clinical features, diagnosis and treatment". Methodist Debakey Cardiovasc J. 8 (3): 3–7. PMC 3487569. PMID 23227278.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.