Fabry's disease history and symptoms: Difference between revisions
Jump to navigation
Jump to search
Ghsanadgol (talk | contribs) |
Ghsanadgol (talk | contribs) |
||
| (7 intermediate revisions by 2 users not shown) | |||
| Line 1: | Line 1: | ||
__NOTOC__ | |||
{{Fabry's disease}} | {{Fabry's disease}} | ||
{{CMG}} | {{CMG}} {{AE}} {{GhazalS}} | ||
== | ==Overview== | ||
A positive history of [[Angiokeratoma|angiokeratomas]], peripheral [[neuropathies]], gradually decreased sweating, and [[Gastrointestinal tract|gastrointestinal]] manifestations in childhood are suggestive of classic [[Fabry's disease]]. In the late-onset form of the disease [[neuropathic]] pain and gastrointestinal manifestation is not common and they may have organ-specific symptoms. | |||
* [[Fabry's disease]] should be considered in patients with a family history of the disease, clinical manifestations, and proven laboratory abnormalities. | ==History== | ||
*[[Fabry's disease]] should be considered in patients with a family history of the disease, clinical manifestations, and proven laboratory abnormalities. | |||
==Symptoms== | ==Symptoms== | ||
'''Neurological''' | '''Neurological'''<ref name="pmid216195922">{{cite journal| author=Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C | display-authors=etal| title=Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. | journal=BMC Neurol | year= 2011 | volume= 11 | issue= | pages= 61 | pmid=21619592 | doi=10.1186/1471-2377-11-61 | pmc=3126707 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21619592 }}</ref> | ||
*Lack of sweating ([[anhidrosis]]) or decreased sweating | *Lack of sweating ([[anhidrosis]]) or decreased sweating | ||
*Burning pain in the extremities | *Burning pain in the extremities([[acroparesthesia]]) | ||
*[[Loss of sensation]]s in extremities | *[[Loss of sensation]]s in extremities | ||
*[[Lack of coordination of muscle movement]] ([[ataxia]]) | *[[Lack of coordination of muscle movement]] ([[ataxia]]) | ||
*TIA or ischemic strokes | *TIA or ischemic strokes | ||
'''Gastrointestinal''' | '''Gastrointestinal'''<ref name="pmid17919989">{{cite journal| author=Hoffmann B, Schwarz M, Mehta A, Keshav S, Fabry Outcome Survey European Investigators| title=Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. | journal=Clin Gastroenterol Hepatol | year= 2007 | volume= 5 | issue= 12 | pages= 1447-53 | pmid=17919989 | doi=10.1016/j.cgh.2007.08.012 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17919989 }}</ref> | ||
*[[Difficulty swallowing]] ([[dysphagia]]) | *[[Difficulty swallowing]] ([[dysphagia]]) | ||
| Line 26: | Line 30: | ||
*Postprandial pain | *Postprandial pain | ||
'''Cardiac''' | '''Cardiac'''<ref name="pmid11758683">{{cite journal| author=Linhart A, Lubanda JC, Palecek T, Bultas J, Karetová D, Ledvinová J | display-authors=etal| title=Cardiac manifestations in Fabry disease. | journal=J Inherit Metab Dis | year= 2001 | volume= 24 Suppl 2 | issue= | pages= 75-83; discussion 65 | pmid=11758683 | doi=10.1023/a:1012428009627 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11758683 }}</ref> | ||
*[[Chest pain]] and [[palpitations]] | *[[Chest pain]] and [[palpitations]] | ||
*Arrhythmias - ventricular | *Arrhythmias - ventricular | ||
'''Skin''' | '''Skin'''<ref name="pmid21092187">{{cite journal| author=Germain DP| title=Fabry disease. | journal=Orphanet J Rare Dis | year= 2010 | volume= 5 | issue= | pages= 30 | pmid=21092187 | doi=10.1186/1750-1172-5-30 | pmc=3009617 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21092187 }}</ref> | ||
*Red spots on the skin ([[angiokeratoma]]s): tiny, painless [[papules]] that appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin. | *Red spots on the skin ([[angiokeratoma]]s): tiny, painless [[papules]] that appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin. | ||
| Line 37: | Line 41: | ||
*Decreased sweating ( hypohydriosis) | *Decreased sweating ( hypohydriosis) | ||
'''Musculoskeletal''' | '''Musculoskeletal'''<ref name="pmid26697993">{{cite journal| author=Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S | display-authors=etal| title=Musculoskeletal manifestations of Fabry disease: A retrospective study. | journal=Joint Bone Spine | year= 2016 | volume= 83 | issue= 4 | pages= 421-6 | pmid=26697993 | doi=10.1016/j.jbspin.2015.11.001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26697993 }}</ref> | ||
*Osteopenia | *Osteopenia | ||
| Line 43: | Line 47: | ||
*Osteoporosis | *Osteoporosis | ||
'''Endocrine''' | '''Endocrine'''<ref name="pmid25232851">{{cite journal| author=Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP | display-authors=etal| title=Fabry disease in infancy and early childhood: a systematic literature review. | journal=Genet Med | year= 2015 | volume= 17 | issue= 5 | pages= 323-30 | pmid=25232851 | doi=10.1038/gim.2014.120 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25232851 }}</ref> | ||
*[[Delayed puberty]] | *[[Delayed puberty]] | ||
*Intolerance to heat | *Intolerance to heat | ||
'''General''' | '''General'''<ref name="pmid34609404">{{cite journal| author=Dinu IR, Firu ŞG| title=Fabry disease - current data and therapeutic approaches. | journal=Rom J Morphol Embryol | year= 2021 | volume= 62 | issue= 1 | pages= 5-11 | pmid=34609404 | doi=10.47162/RJME.62.1.01 | pmc=8597377 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=34609404 }}</ref> | ||
*Fatigue | *Fatigue | ||
| Line 54: | Line 58: | ||
*[[Cyanosis]] of extremities on exposure to cold ([[Raynaud's phenomenon]]) | *[[Cyanosis]] of extremities on exposure to cold ([[Raynaud's phenomenon]]) | ||
'''ENT''' | '''ENT'''<ref name="pmid31072727">{{cite journal| author=Eyermann C, Raguin T, Rohmer D, Noel E, Charpiot A| title=Cochleovestibular manifestations in Fabry disease: Importance of screening and systematic ENT evaluation. | journal=Eur Ann Otorhinolaryngol Head Neck Dis | year= 2019 | volume= 136 | issue= 4 | pages= 273-279 | pmid=31072727 | doi=10.1016/j.anorl.2019.04.014 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31072727 }}</ref> | ||
*[[Hearing loss]] | *[[Hearing loss]] | ||
| Line 60: | Line 64: | ||
*Tinnitus | *Tinnitus | ||
'''Ophthalmological''' | '''Ophthalmological'''<ref name="pmid21290696">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290696 | doi= | pmc= | url= }}</ref> | ||
*[[Loss of vision]] from corneal and lenticular opacities | *[[Loss of vision]] from corneal and lenticular opacities | ||
'''Nephrology''' | '''Nephrology'''<ref name="pmid346094042">{{cite journal| author=Dinu IR, Firu ŞG| title=Fabry disease - current data and therapeutic approaches. | journal=Rom J Morphol Embryol | year= 2021 | volume= 62 | issue= 1 | pages= 5-11 | pmid=34609404 | doi=10.47162/RJME.62.1.01 | pmc=8597377 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=34609404 }}</ref> | ||
*Impaired ability of the medullary renal tubules to concentrate the urine ( hyposthenuria) | *Impaired ability of the medullary renal tubules to concentrate the urine ( hyposthenuria) | ||
*Microalbuminuria, proteinuria | *Microalbuminuria, proteinuria | ||
'''Respiratory''' | '''Respiratory'''<ref name="pmid26557248">{{cite journal| author=Svensson CK, Feldt-Rasmussen U, Backer V| title=Fabry disease, respiratory symptoms, and airway limitation - a systematic review. | journal=Eur Clin Respir J | year= 2015 | volume= 2 | issue= | pages= | pmid=26557248 | doi=10.3402/ecrj.v2.26721 | pmc=4629719 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26557248 }}</ref> | ||
*wheezing | *wheezing | ||
| Line 75: | Line 79: | ||
==References== | ==References== | ||
{{Reflist|2}} | |||
<br /> | |||
[[Category:Needs english review]] | |||
Latest revision as of 11:09, 14 July 2022
|
Fabry's disease Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Fabry's disease history and symptoms On the Web |
|
American Roentgen Ray Society Images of Fabry's disease history and symptoms |
|
Risk calculators and risk factors for Fabry's disease history and symptoms |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]
Overview
A positive history of angiokeratomas, peripheral neuropathies, gradually decreased sweating, and gastrointestinal manifestations in childhood are suggestive of classic Fabry's disease. In the late-onset form of the disease neuropathic pain and gastrointestinal manifestation is not common and they may have organ-specific symptoms.
History
- Fabry's disease should be considered in patients with a family history of the disease, clinical manifestations, and proven laboratory abnormalities.
Symptoms
Neurological[1]
- Lack of sweating (anhidrosis) or decreased sweating
- Burning pain in the extremities(acroparesthesia)
- Loss of sensations in extremities
- Lack of coordination of muscle movement (ataxia)
- TIA or ischemic strokes
Gastrointestinal[2]
- Difficulty swallowing (dysphagia)
- Abdominal pain
- Greasy stools (steatorrhea)
- Diarrhea and constipation
- Difficulty gaining weight
- Nausea and vomiting
- Postprandial pain
Cardiac[3]
- Chest pain and palpitations
- Arrhythmias - ventricular
Skin[4]
- Red spots on the skin (angiokeratomas): tiny, painless papules that appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin.
- Telangiectasis
- Decreased sweating ( hypohydriosis)
Musculoskeletal[5]
- Osteopenia
- Osteoporosis
Endocrine[6]
- Delayed puberty
- Intolerance to heat
General[7]
- Fatigue
- Pyrexia of unknown origin
- Cyanosis of extremities on exposure to cold (Raynaud's phenomenon)
ENT[8]
- Hearing loss
- Deafness
- Tinnitus
Ophthalmological[9]
- Loss of vision from corneal and lenticular opacities
Nephrology[10]
- Impaired ability of the medullary renal tubules to concentrate the urine ( hyposthenuria)
- Microalbuminuria, proteinuria
Respiratory[11]
- wheezing
- chronic cough
References
- ↑ Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C; et al. (2011). "Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel". BMC Neurol. 11: 61. doi:10.1186/1471-2377-11-61. PMC 3126707. PMID 21619592.
- ↑ Hoffmann B, Schwarz M, Mehta A, Keshav S, Fabry Outcome Survey European Investigators (2007). "Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy". Clin Gastroenterol Hepatol. 5 (12): 1447–53. doi:10.1016/j.cgh.2007.08.012. PMID 17919989.
- ↑ Linhart A, Lubanda JC, Palecek T, Bultas J, Karetová D, Ledvinová J; et al. (2001). "Cardiac manifestations in Fabry disease". J Inherit Metab Dis. 24 Suppl 2: 75–83, discussion 65. doi:10.1023/a:1012428009627. PMID 11758683.
- ↑ Germain DP (2010). "Fabry disease". Orphanet J Rare Dis. 5: 30. doi:10.1186/1750-1172-5-30. PMC 3009617. PMID 21092187.
- ↑ Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S; et al. (2016). "Musculoskeletal manifestations of Fabry disease: A retrospective study". Joint Bone Spine. 83 (4): 421–6. doi:10.1016/j.jbspin.2015.11.001. PMID 26697993.
- ↑ Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP; et al. (2015). "Fabry disease in infancy and early childhood: a systematic literature review". Genet Med. 17 (5): 323–30. doi:10.1038/gim.2014.120. PMID 25232851.
- ↑ Dinu IR, Firu ŞG (2021). "Fabry disease - current data and therapeutic approaches". Rom J Morphol Embryol. 62 (1): 5–11. doi:10.47162/RJME.62.1.01. PMC 8597377 Check
|pmc=value (help). PMID 34609404 Check|pmid=value (help). - ↑ Eyermann C, Raguin T, Rohmer D, Noel E, Charpiot A (2019). "Cochleovestibular manifestations in Fabry disease: Importance of screening and systematic ENT evaluation". Eur Ann Otorhinolaryngol Head Neck Dis. 136 (4): 273–279. doi:10.1016/j.anorl.2019.04.014. PMID 31072727.
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290696.
- ↑ Dinu IR, Firu ŞG (2021). "Fabry disease - current data and therapeutic approaches". Rom J Morphol Embryol. 62 (1): 5–11. doi:10.47162/RJME.62.1.01. PMC 8597377 Check
|pmc=value (help). PMID 34609404 Check|pmid=value (help). - ↑ Svensson CK, Feldt-Rasmussen U, Backer V (2015). "Fabry disease, respiratory symptoms, and airway limitation - a systematic review". Eur Clin Respir J. 2. doi:10.3402/ecrj.v2.26721. PMC 4629719. PMID 26557248.