This condition is part one of the three major catergories of Adrenoleukodystrophy (ALD) which refers to several different inherited conditions that affect the nervous system and adrenal glands.
It’s milder than childhood cerebral ALD, it also progresses slowly by comparison.
Both will be discussed in this chapter (the main focus on this chapter is Addison’s disease).
Causes and risk factors
The adrenoleukodystrophy protein (ALDP) helps your body break down very long chain fatty acids (VLCFAs). If the protein doesn’t do its job, the fatty acids build up inside your body. This can harm the outer layer of cells in your:
Spinal cord
Brain
Adrenal glands (Addison’s disease)
Testes
People with ALD have mutations in the gene that makes ALDP. Their bodies don’t make enough ALDP.
Men are typically affected by ALD at an earlier age than women and usually have more severe symptoms.
Inherited factors:
ALD affects males more than females because it is inherited in an X-linked pattern. This means that the responsible gene mutation is on the X chromosome.
Men only have one X chromosome, while women have two. Because women have two X chromosomes, they can have one normal gene and one copy with the gene mutation.
Women who have only one copy of the mutation have much milder symptoms than men.
In some cases, women who carry the gene don’t have symptoms at all.
Their normal copy of the gene makes enough ALDP to help mask their symptoms.
Most women with ALD have adrenomyelopathy. Addison’s disease and childhood cerebral ALD are less common.
Diagnosing adrenoleukodystrophy
ALD symptoms can mimic those of other illnesses. Tests are needed to distinguish ALD from other neurological conditions. Your doctor may order a blood test to:
Look for abnormally high levels of VLCFAs (very long chain fatty acids)
check your adrenal glands
find the genetic mutation that causes ALD
Your doctor may also look for:
Damage to your brain using an MRI scan.
Skin samples or a biopsy and fibroblast cell culture can also be used to test for VLCFAs.
Children with suspected ALD may need additional testing, including vision screens.
Healthline
(Primary adrenal insufficiency or hypoadrenalism, Addison’s disease)
A rare condition where the two adrenal glands (located above kidneys) don’t produce enough steroid (cortisol), mineralocorticoids (especially aldosterone- needed in blood pressure control) and sex hormones (testosterone).
Cortisol functions:
Hormone that gives feeling of ‘fight/aggression feeling’ and control stress.
It helps in high blood pressure and heart to work properly.
Control blood sugar levels (glucose in the blood to avoid diabetes).
Control food to turn to energy (metabolism).
Control salt and water in the body by retaining salt in blood and removing potassium in the kidney, this is important to avoid low blood pressure.
It makes our immune system (our defence system) weaker.
Cause
Auto immune disease where body defence system (immune system) fights other parts of body in this case the adrenal gland.
Amyloidosis – [a protein in bone marrow (amyloid) builds up and damages the gland]
Surgery to remove tumour from gland.
Adrenoleukodystrophy (ALD) – a rare, life-limiting inherited condition that affects the adrenal glands and nerve cells in the brain, and is mostly seen in young boys affecting minly 3 and 10 years old.
It progresses very rapidly and causes severe disability and sometimes death.
Symptoms include:
muscle spasms
seizures
Impaired vision
Crossed eyes
loss of hearing
trouble swallowing
trouble with language comprehension
deterioration of fine motor control
hyperactivity
paralysis
coma
Healthline
Pituitary gland dysfunction i.e. tumour (Secondary adrenal insufficiency) – this gland in the brain supply hormones and signals to activate adrenal glands to release its hormones
Given birth to a child
Taking adrenal hormone based supplements (for non-medical reasons) – this will cause the body to stop and/or lower levels of producing it’s own natural adrenal supplements.
Also if such supplements are stopped suddenly , it will take time for the body to restore its own natural levels of adrenal hormones causing one at risk of adrenal crisis and symptoms similar below.
Waterhouse – Friderichsen syndrome (Haemorrhagic adrenalistis)- (adrenal gland failure due to bleeding into the adrenal glands, commonly caused by severe bacterial infection)
Secondary conditions: i.e. pituitary gland not functioning properly)
Those who take long term corticosteroids and then withdraw suddenly
Symptoms:
Severe dehydration?
Pale, cold, clammy skin?
Sweating?
Rapid, shallow breathing?
Balance and Dizziness?
severe vomiting and diarrhoea?
Severe muscle weakness?
Sudden pain in the lower back or legs?
Headache?
Severe drowsiness or loss of consciousness?
Treatment of Adrenal cell crisis in hospital
You will need to be given the medicine hydrocortisone right away through a vein (intravenous) or muscle (intramuscular).
You may receive intravenous fluids if you have low blood pressure.
You will need to go to the hospital for treatment and monitoring.
If infection or another medical problem caused the crisis, you may need additional treatment.
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Addisons Disease (Adrenal Crisis) in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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