Misdiagnosis of Gaucher Disease
Diseases for which Gaucher Disease may be an alternative diagnosis
The other diseases for which Gaucher Disease
is listed as a possible alternative
diagnosis in their lists include:
Gaucher Disease: Hidden Causes Misdiagnosed?
Causes of Gaucher Disease may include these medical conditions:
- All 3 forms of Gaucher disease are caused by glucocerebrosidase activity deficiency due to mutations in GBA, structural gene that encodes the enzyme. Widespread accumulation of glucosylceramide-laden macrophages results from the enzyme deficiency
- more causes...»
Gaucher Disease: Undiagnosed Conditions
Commonly undiagnosed conditions in related areas may include:
Common Misdiagnoses and Gaucher Disease
Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who
had been institutionalized and treated for mental illness
because he suffered from sudden inability to speak.
This was initially misdiagnosed as a "nervous breakdown" and other mental conditions.
He was later diagnosed as having had a stroke, and suffering from aphasia (inability to speak),
a well-known complication of stroke (or other brain conditions).
Dementia may be a drug interaction: A common scenario in aged care is for
a patient to show mental decline to dementia.
Whereas this can, of course, occur due to various medical conditions,
such as a stroke or Alzheimer's disease,
it can also occur from a side effect or interaction between multiple drugs
that the elderly patient may be taking.
There are also various other possible causes of dementia.
Mild traumatic brain injury often remains undiagnosed: Although the symptoms
of severe brain injury are hard to miss,
it is less clear for milder injuries, or even those causing a mild concussion diagnosis.
The condition goes by the name of "mild traumatic brain injury" (MTBI).
MTBI symptoms can be mild, and can continue for days or weeks after the injury.
See the symptoms of MTBI or misdiagnosis of MTBI.
MTBI misdiagnosed as balance problem: When a person has symptoms
such as vertigo or dizziness, a diagnosis of brain injury may go overlooked.
This is particularly true of mild traumatic brain injury (MTBI), for which the
symptoms are typically mild. The symptoms has also relate to a relatively
mild brain injury (e.g. fall), that could have occurred days or even weeks ago.
Vestibular dysfunction, causing vertigo-like symptoms, is a common complication
of mild brain injury.
See causes of dizziness, causes of vertigo, or misdiagnosis of MTBI.
Brain pressure condition often misdiagnosed as dementia: A condition
that results from an excessive pressure of CSF within the brain is often misdiagnosed.
It may be misdiagnosed as Parkinson's disease or dementia (such as Alzheimer's disease).
The condition is called "Normal Pressure Hydrocephalus" (NPH) and is caused by having
too much CSF, i.e. too much "fluid on the brain".
One study suggested that 1 in 20 diagnoses of dementia or Parkinson's disease were actually NPH.
See misdiagnosis of Alzheimer's disease or misdiagnosis of Parkinson's disease.
Post-concussive brain injury often misdiagnosed: A study found that soldiers who had
suffered a concussive injury in battle often were misdiagnosed on their return.
A variety of symptoms can occur in post-concussion syndrome and these were not being correctly
attributed to their concussion injury.
See introduction to concussion.
Chronic liver disease often undiagnosed: One study reported that 50% of patients
with a chronic liver disease remain undiagnosed by their primary physician.
The reasons are multifactorial.
Possible conditions include chronic hepatitis, cirrhosis of the liver, hemochromatosis,
or other types of liver condition.
See introduction to liver disease or misdiagnosis of liver disease.
Children with migraine often misdiagnosed: A migraine often fails to be
correctly diagnosed in pediatric patients.
These patients are not the typical migraine sufferers, but migraines can also occur in children.
See misdiagnosis of migraine or introduction to migraine.
Gaucher Disease: Rare Types
Rare types of medical disorders and diseases in related medical areas:
General Misdiagnosis Articles
Read these general articles with an overview of misdiagnosis issues.
About misdiagnosis:
When checking for a misdiagnosis of Gaucher Disease
or confirming a diagnosis of Gaucher Disease,
it is useful to consider what other
medical conditions might be possible misdiagnoses or other alternative
conditions relevant to diagnosis.
These alternate diagnoses of Gaucher Disease may already have
been considered by your doctor or may need to be considered as possible
alternative diagnoses or candidates for misdiagnosis of Gaucher Disease.
For a general overview of misdiagnosis issues for all diseases,
see Overview of Misdiagnosis.
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Undiagnosed Gaucher Disease
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