Fabry's disease history and symptoms: Difference between revisions

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__NOTOC__
{{Fabry's disease}}
{{Fabry's disease}}


{{CMG}}
{{CMG}} {{AE}} {{GhazalS}}


==Signs and Symptoms ==
==Overview==
'''Neurological'''  
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. 
 
==History==
 
*[[Fabry's disease]] should be considered in patients with a family history of the disease, clinical manifestations, and proven laboratory abnormalities.
 
==Symptoms==
'''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]])
* [[Abdominal pain]]
*[[Abdominal pain]]
* [[Greasy stools]] ([[steatorrhea]])
*[[Greasy stools]] ([[steatorrhea]])
* Difficulty gaining weight  
*Diarrhea and constipation
* nausea and vomiting  
*Difficulty gaining weight
* post prandial pain  
*Nausea and vomiting
*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 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.
* [[Telangiectasis]]
*[[Telangiectasis]]
* 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


* 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
* [[Pyrexia of unknown origin]]
*[[Pyrexia of unknown origin]]
* [[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]]
* deafness
*Deafness
* 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
* Vasculopathy involving the retina and the conjunctiva


'''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  
*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
* chronic cough


=== '''Pathophysiology''' behind the '''earliest''' and '''most common manifestations''' of FD include the following : ===
*wheezing
 
*chronic cough
* '''Angiokeratomas-''' occurs as a result of the damage to the vascular endothelia cells with dilation of the vessels in the dermis. These clusters of reddish purple raised skin lesions increase with age.
* '''Neuropathic pain''' - Burning sensation in the extremities seen as a result of the small nerve fibres of the peripheral and somatic autonomic nervous system.Episodic crises ("Fabry crises") characterized by burning pain originating in the extremities and radiating inwards towards the limbs  and chronic pain characterized by burning and tingling paraesthesias. These episodes of pain are precipitated by fever, exercise, fatigue, stress, and sudden changes in temperature.[1]
* '''Post prandial pain and Diarrhoea''' - Involvement of the autonomic ganglia in the bowel wall and mesenteric blood vessels is responsible for the varied gastrointestinal involvement seen
* '''Arrhythmias''' - This is predominantly seen in adulthood and occurs as a result of the involvement of the conduction system and an imbalance created between sympathetic and parasympathetic systems. Ventricular arrhythmias have been indicated as a poor prognostic sign and the cause of cardiac related deaths in patients affected with FD .
* '''Microalbuminuria''' - seen as a result of deposition of Gb3 in the glomerular endothelial and mesangial cells. The damage caused to the renal tubules as a result of this deposition decreases the urine concentrating ability of the kidneys and overtime the renal function declines progressively and irreversibly. [2]


==References==
==References==
[1]  Charrow J. A 14-year-old boy with pain in hands and feet. Pediatr Ann. 2009;38:190–192. doi: 10.3928/00904481-20090401-01
{{Reflist|2}}
 
<br />
[2] Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. . {{Reflist|2}}
[[Category:Needs english review]]

Latest revision as of 11:09, 14 July 2022

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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]

Gastrointestinal[2]

Cardiac[3]

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]

General[7]

ENT[8]

Ophthalmological[9]

Nephrology[10]

  • Impaired ability of the medullary renal tubules to concentrate the urine ( hyposthenuria)
  • Microalbuminuria, proteinuria

Respiratory[11]

  • wheezing
  • chronic cough

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ Germain DP (2010). "Fabry disease". Orphanet J Rare Dis. 5: 30. doi:10.1186/1750-1172-5-30. PMC 3009617. PMID 21092187.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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).
  8. ↑ 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.
  9. ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290696.
  10. ↑ 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).
  11. ↑ 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.


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