Reasonable Hypothesis SOP [1] | 37 of 2023 |
Balance of Probabilities SOP [2] | 38 of 2023 |
SOP Bulletin 236 [3]
ICD-10-AM Code: E75.2
This is a genetic disorder involving an error of metabolism that affects the recycling of cellular glycolipids. This leads to tissue and organ damage from the accumulation of lipid-laden macrophages in the spleen, liver, bone marrow, bone, and other tissues/organs.
This diagnosis is generally confirmed by a finding of reduced activity of the relevant enzyme (glucocerebrosidase) on blood testing. Genetic testing will also be performed. Histological, radiological and other laboratory investigations may also be useful in establishing the diagnosis.
The relevant medical specialist is a physician.
The condition has a variety of presenting features that may occur at any age with varying severity. Manifestations include splenomegaly 85%, hepatomegaly 63%, thrombocytopenia 68%, anemia 34%, osteopenia 55%, bone pain 33%, pathologic fractures 7%, growth retardation 36%.
The only SOP factor is for inability to obtain appropriate clinical management.
Natural progression of the disease varies with the phenotype. Worsening beyond the normal progression of the disease needs to be evident before a clinical worsening factor can be considered.
Treatment of Gaucher disease (GD) is tailored to the individual patient because of the variability in the manifestations, severity, and progression of the disease. GD is one of the few inherited metabolic disorders for which enzyme-replacement therapy (ERT) is available. Additional therapies include substrate-reduction therapy and supportive care measures to manage associated conditions.
Place holder node for Rulebase for Gaucher's disease
Gaucher's disease - Inability to obtain appropriate clinical management for Gaucher's disease Factor
Last reviewed for CCPS 24 May 2007.
Investigative Documents
Medical Report - Inability to Obtain Appropriate Clinical Management - [GQACM] Preliminary questions [8553] 11109 — the condition under consideration has been accepted on the basis of inability to obtain appropriate clinical management for the condition under consideration.
7334 [6] the clinical onset of the condition under consideration occurred after the end of the veteran's last period of VEA service. the condition under consideration permanently worsened. the veteran was unable to obtain appropriate clinical management for the condition under consideration at some time.
7379 [9] the inability to obtain appropriate clinical management for the condition under consideration contributed to the clinical worsening of the condition under consideration. 11234 — the veteran has established the causal connection between the inability to obtain appropriate clinical management for the condition under consideration and VEA service for the clinical worsening of the condition under consideration. 11235 — the veteran has established the causal connection between the inability to obtain appropriate clinical management for the condition under consideration and operational service for the clinical worsening of the condition under consideration. or 11236 — the veteran has established the causal connection between the inability to obtain appropriate clinical management for the condition under consideration and eligible service for the clinical worsening of the condition under consideration. Clinical worsening and operational service [11235] or 7390 — the identified illness or injury which prevented the veteran from obtaining appropriate clinical management for the condition under consideration is causally related to operational service. [14] [15] Clinical worsening and eligible service [11236] or 7391 — the identified illness or injury which prevented the veteran from obtaining appropriate clinical management for the condition under consideration is causally related to eligible service. [14] [15]
Links
[1] http://www.rma.gov.au/assets/SOP/2023/1a45755ec4/037.pdf
[2] http://www.rma.gov.au/assets/SOP/2023/2d0838a087/038.pdf
[3] https://clik.dva.gov.au/system/files/media/SOP%20Bulletin%20236.pdf
[4] https://clik.dva.gov.au/user/login?destination=comment/reply/63555%23comment-form
[5] https://clik.dva.gov.au/ccpsother-31
[6] https://clik.dva.gov.au/node/70767
[7] clikpopup://CCPS/Reject/OnsetAfterService
[8] clikpopup://CCPS/Reject/NoPermanentWorsening
[9] https://clik.dva.gov.au/8553-inability-obtain-appropriate-clinical-management-gauchers-disease-0
[10] clikpopup://CCPS/ACM/NoContribution
[11] clikpopup://CCPS/ACM/NotOpService
[12] clikpopup://CCPS/ACM/NotOperDuties
[13] clikpopup://CCPS/rejectwilful
[14] clikpopup://CCPS/ACM/NoIllness
[15] clikpopup://CCPS/reject7390,7391No
[16] clikpopup://CCPS/Gaucher's disease/ACM %C2%96 onset prior to operational service
[17] clikpopup://CCPS/ACM/OnsetFailOper
[18] clikpopup://CCPS/ACM/NotEligService
[19] clikpopup://CCPS/ACM/NotEligDuties
[20] clikpopup://CCPS/Gaucher's disease/ACM %C2%96 onset prior to eligible service
[21] clikpopup://CCPS/ACM/OnsetFailElig