Progeria secondary prevention: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{ | {{Progeria}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{VKG}} | ||
==Overview== | ==Overview== | ||
Effective measures for the secondary prevention of Hutchinson-Gilford progeria syndrome (HGPS) include nutritional assessment, assessment of cardiac and neurologic status of the patient, musculoskeletal issues assessment, dental evaluation, ophthalmology evaluation and audiology evaluation. | Effective measures for the [[secondary prevention]] of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) include [[nutritional]] assessment, assessment of the [[cardiac]] and [[Neurology|neurologic]] status of the patient, [[Musculoskeletal system|musculoskeletal]] issues assessment, [[dental]] evaluation, [[ophthalmology]] evaluation, and [[audiology]] evaluation. | ||
==Secondary Prevention== | ==Secondary Prevention== | ||
Effective measures for the secondary prevention of Hutchinson-Gilford progeria syndrome (HGPS) include: | Effective measures for the [[secondary prevention]] of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) include:<ref name="pmid20301300">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al.| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301300 | doi= | pmc= | url= }}</ref> | ||
'''Cardiac assessment''' | |||
*In patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) accelerated progressive atherosclerosis is primary concern, so yearly cardiac evaluation should be considered with the following:<ref name="pmid11842974">{{cite journal| author=Ackerman J, Gilbert-Barness E| title=Hutchinson-Gilford progeria syndrome: a pathologic study. | journal=Pediatr Pathol Mol Med | year= 2002 | volume= 21 | issue= 1 | pages= 1-13 | pmid=11842974 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11842974 }}</ref><ref name="pmid21251803">{{cite journal| author=Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A| title=[Three cases of Hutchinson-Gilford progeria syndrome]. | journal=Arch Pediatr | year= 2011 | volume= 18 | issue= 2 | pages= 156-9 | pmid=21251803 | doi=10.1016/j.arcped.2010.11.014 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21251803 }}</ref><ref name="pmid22991222">{{cite journal| author=Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M et al.| title=An inherited LMNA gene mutation in atypical Progeria syndrome. | journal=Am J Med Genet A | year= 2012 | volume= 158A | issue= 11 | pages= 2881-7 | pmid=22991222 | doi=10.1002/ajmg.a.35557 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22991222 }}</ref> | |||
**[[Electrocardiogram]] ([[ECG]]) | |||
**[[Blood pressure]] measurement | |||
**[[Lipid profile]] testing | |||
**[[Echocardiography]] | |||
'''Growth management''' | |||
* A complete [[nutritional]] assessment which includes weight/height on growth charts of the patient | |||
* Encourage the patient for frequent small meals to maximize [[calorie]] intake | |||
*Advise on adequate oral [[hydration]] should be considered | |||
'''Neurologic assessment''' | |||
* In patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) investigate for any symptoms of the following:<ref name="pmid212518032">{{cite journal| author=Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A| title=[Three cases of Hutchinson-Gilford progeria syndrome]. | journal=Arch Pediatr | year= 2011 | volume= 18 | issue= 2 | pages= 156-9 | pmid=21251803 | doi=10.1016/j.arcped.2010.11.014 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21251803 }}</ref> | |||
**[[Transient ischemic attack]]([[Transient ischemic attack|TIA]]) | |||
**[[Stroke]] | |||
**Brain and neck [[magnetic resonance imaging]] ([[Magnetic resonance imaging|MRI]]) | |||
**Carotid duplex scans- vascular status status | |||
'''Musculoskeletal assessment''' | |||
* Annual [[skeletal]] radiographs are recommended.<ref name="pmid22752073">{{cite journal| author=Cleveland RH, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD et al.| title=A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. | journal=Pediatr Radiol | year= 2012 | volume= 42 | issue= 9 | pages= 1089-98 | pmid=22752073 | doi=10.1007/s00247-012-2423-1 | pmc=4220680 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22752073 }}</ref> | |||
'''Dental''' '''assessment''' | |||
* In patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) for every six months routine dental evaluation is recommended. | |||
'''Ophthalmologic assessment''' | |||
* In patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) annual [[ophthalmology]] assessment is considered for the following: | |||
** Exposure [[keratopathy]] | |||
'''Hearing assessment''' | |||
* In patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) annual hearing assessment should be considered for the following: | |||
**[[Conductive hearing loss|Conductive]] hearing loss | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category: | [[Category: Rare disease]] | ||
Latest revision as of 02:10, 14 August 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Effective measures for the secondary prevention of Hutchinson-Gilford progeria syndrome (HGPS) include nutritional assessment, assessment of the cardiac and neurologic status of the patient, musculoskeletal issues assessment, dental evaluation, ophthalmology evaluation, and audiology evaluation.
Secondary Prevention
Effective measures for the secondary prevention of Hutchinson-Gilford progeria syndrome (HGPS) include:[1]
Cardiac assessment
- In patients with Hutchinson-Gilford progeria syndrome (HGPS) accelerated progressive atherosclerosis is primary concern, so yearly cardiac evaluation should be considered with the following:[2][3][4]
- Electrocardiogram (ECG)
- Blood pressure measurement
- Lipid profile testing
- Echocardiography
Growth management
- A complete nutritional assessment which includes weight/height on growth charts of the patient
- Encourage the patient for frequent small meals to maximize calorie intake
- Advise on adequate oral hydration should be considered
Neurologic assessment
- In patients with Hutchinson-Gilford progeria syndrome (HGPS) investigate for any symptoms of the following:[5]
- Transient ischemic attack(TIA)
- Stroke
- Brain and neck magnetic resonance imaging (MRI)
- Carotid duplex scans- vascular status status
Musculoskeletal assessment
Dental assessment
- In patients with Hutchinson-Gilford progeria syndrome (HGPS) for every six months routine dental evaluation is recommended.
Ophthalmologic assessment
- In patients with Hutchinson-Gilford progeria syndrome (HGPS) annual ophthalmology assessment is considered for the following:
- Exposure keratopathy
Hearing assessment
- In patients with Hutchinson-Gilford progeria syndrome (HGPS) annual hearing assessment should be considered for the following:
- Conductive hearing loss
References
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301300.
- ↑ Ackerman J, Gilbert-Barness E (2002). "Hutchinson-Gilford progeria syndrome: a pathologic study". Pediatr Pathol Mol Med. 21 (1): 1–13. PMID 11842974.
- ↑ Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A (2011). "[Three cases of Hutchinson-Gilford progeria syndrome]". Arch Pediatr. 18 (2): 156–9. doi:10.1016/j.arcped.2010.11.014. PMID 21251803.
- ↑ Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M; et al. (2012). "An inherited LMNA gene mutation in atypical Progeria syndrome". Am J Med Genet A. 158A (11): 2881–7. doi:10.1002/ajmg.a.35557. PMID 22991222.
- ↑ Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A (2011). "[Three cases of Hutchinson-Gilford progeria syndrome]". Arch Pediatr. 18 (2): 156–9. doi:10.1016/j.arcped.2010.11.014. PMID 21251803.
- ↑ Cleveland RH, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD; et al. (2012). "A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome". Pediatr Radiol. 42 (9): 1089–98. doi:10.1007/s00247-012-2423-1. PMC 4220680. PMID 22752073.