Addison’s disease is a total loss or deficiency in secreting the hormones that are made in the adrenal glands, the disease was named after the person who first described the disease, his name is Thomas Addison, he first described it in 1855, typically Addison’s disease has very broad signs, like low blood pressure, low blood glucose level, fever, vomiting, etc… typically there are some ways for treating the disease, but it cannot be cured.
Addison’s disease is considered a rare disease, usually about only 1 in 100,000 are affected, also there is no tendency to a specific race, but there has been a tendency to affect people from the ages of 30 to 50 years old, with a mean age for females 3.2 years lower than normal and 11.2 years lower for men based on a 2009 publication by Eur J Endocrinol. There are many causes of adrenal insufficiency when it was first discovered, the main cause was tuberculosis, but over time with the advancement of medicine, tuberculosis was reduced significantly, making the leading cause to become autoimmune complications, typically no symptoms are seen until about 90% of the adrenal cortex is damaged, based on a 1992 publication by O. Winqvist, the autoimmune system attacks the enzyme 21-hydroxylase, and during the spread of cancer, or any hemorrhaging in the adrenal gland might also be the cause.
Also, if the cortex is not able to produce the hormones mostly cortisol and aldosterone, even if they are not damaged, like for example, the pituitary gland is not functioning properly, it’s known as secondary adrenal insufficiency, or when the body is unable to convert cholesterol, for example, is someone has Smith-Lemli-Opitz syndrome causing an error during cholesterol synthesis. The autoimmune system along with genetic factors and the environment that the person is in plays a big role in the severity of it.
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As for the symptoms of Addison’s disease, typically they are vague/nonspecific and progress slowly, on top of that the disease itself is rare causing it to be harder to recognize, thus this leads to misdiagnosis, some of the symptoms are, fatigue, vomiting and diarrhea, sweating, muscle weakness, lightheadedness, low blood pressure, joint pain, even depression and anxiety, one of the somewhat unique symptom is the hyperpigmentation typically at the gum of the mouth or close to any scars on the skin, this usually happens due to the increase of ACTH because of the loss of cortisol in the body.
Typically looking at the patient medical profile and especially seeing the hyperpigmentation serve as a key factor that helps with its identification, many times the disease is identified when the person is running a normal blood test and the results show a low level of sodium or high level of potassium. Also an ACTH stimulation test can be made, along with a test measurement of the levels of cortisol and aldosterone in both the blood and urine would give a more definitive answer, according to R. Paul Robertson from “Endocrine Society Journals” 2 test is done, one of them is short the other is long, for the short test 250mg of tetracosactide is given in either the vain or muscle, if after an hour the cortisol in the plasma is more than 170nmol/l and it rose by 330nmol/l to become at minimum 690nmol/l then there is no adrenal failure, but if in the short test the result came out to be abnormal, then the long test can be done to indicate if its a primary or secondary adrenal insufficiency, for the long test 1mg of tetracosactide is given intramuscularly, then blood samples are collected after 1, 4, 8, and 24 hours.
Normal cortisol level is 1000nmol/l at the 4-hour mark, if the person has primary Addison’s disease, they would have a lower level of cortisol in all samples, if it is a secondary Addison’s disease, there would be a late response, meaning the person would have a normal but delayed response. As for treating Addison’s disease, typically it can be done through maintenance medication to supply the body with the missing hormones, for cortisol usually hydrocortisone pills are given, or even prednisone tablets, typically the dosage is given in 2 intervals per day that is done to mimic how actual concentration of the hormone changes in the body, for aldosterone fludrocortisone is its replacement, and typically they are given as 1 dosage per day, if the person has any pre-existing condition the medication dosage needs to be adjusted, also during an infection or surgery or even trauma, the dosage typically is increased, and given intravenously.
Also the patient is told to try and increase the salt intake, medication never stops since Addison’s disease is chronic, meaning that the patient has to take his/her medication on a daily basis, there are some investigational therapies that are being tested at the moment, according to an article by NORD (National Organization for Rare Disorders). “Some individuals with Addison’s disease may also be treated with androgen replacement therapy, such as testosterone or androstenedione hormone. Researchers have reported improvements in mood, fatigue and general psychological well-being among individuals with Addison’s disease treated with androgen replacement therapy. For women, androgen replacement therapy may also improve their sex drive and sexual satisfaction.”
Also, a patient with Addison’s disease should always keep monitoring themselves to avoid going through an Addisonian crisis. Usually the outcome for the patient is good, they can live normal lives, they have to be somewhat on the lookout for any of the signs for a possible Addisonian crisis, spicily if they are tiered, sick, or simply tiered (like from working out) if Addisonian crisis happens they will need emergency help with injections that hare intravenous, there could be an increase to doctors routine checkups, pregnancy is also possible but it needs extra attention and monitoring for the patient, most Addison’s disease patient are encouraged to wear a medical identification bracelet or neckless that states Addison’s disease so in case of an emergency, the first responders will not misidentify what have happened and ensure proper treatment to the patient, with that being said people with Addison’s disease have almost double the mortality rate in comparison to healthy people also sudden death is more common in patients that have been diagnosed at a young age, that is why many of the patients should carry syringes that have 4mg of dexamethasone or 100mg of hydrocortisone, these are to be used during an emergency where the patient became unconscious or even during a major trauma.
There is not fully way to prevent Addison’s disease, so there should be more focuses on how to relieve and prevent triggers for it, learning the factors that might cause the trigger is more of a preventive care like for instance learning how to manage stress, after all, trauma and stress are key factors that worsen the persons illness, many medical professionals recommend something like yoga or meditation which should help manage and restrain stress and anxiety, eating a specific diet also plays a role in preventing, typically people with Addison’s disease need more salts in there diet to help with the treatment, also more complex food are typically more favorable that simple easily converted food, know how to exercise is also very important, any type of work that put stains on the body should be avoided, especially if the weather is hot because the body would sweat and lose many of its salts.
A good thing to do is also to know your genetic inheritance, there is a tendency for autoimmune diseases to be passed down by generations, same goes to any diabetes, many of them can be passed on to the offspring by genetics, so knowing your genetic standing and the change of having any of these diseases can greatly help in understanding the risk factor that a person might have, lastly, infections like tuberculosis should be treated and not left unaddressed, although such infection is not considered rare, but vaccinations are available and should be taken as preventative care.
With Addison’s Disease there could be complications such as having other medical conditions that might amplify the effect of the disease, or other diseases what arise from it, for example typically someone with Addison’s Disease will have Hypoglycemia or low level of cortisol so when a person goes through a stressful situation they will go through adrenal crisis which can cause coma or death, a hypovolemic shock can happen causing blood not to be pump correctly to the brain leading to a stroke or hypoxia and if not treated immediately it will lead to disability or death, also since Addison’s Disease can be caused by many factors, the problem can be amplified if the person has multiple of these factors together.
For example, in the NIH article “Autoimmune Addison disease” if someone with autoimmune disease in The HLA complex this leads the immune system to not being able to distinguish the body’s own proteins from other proteins made by viruses or bacteria, so the immune system will start to attack the adrenal cortex and the rest of the body, with that some proteins become more inefficient causing the development of other problems like abetalipoproteinemia, which hinders the cortisol synthesis prosses leading to more complications and amplifying the severity of Addison’s Disease.
Overall Addison’s Disease is a disorder that is chronic and has many symptoms, many of these symptoms are nonspecific, being an endocrine disorder, it has a vast effect on the body as a whole, there are many factors that cause the disease, being the destruction of the adrenal or some genetic mutations that cause it to not work properly, also it could be a type of impairment that leads to not making any of the needed hormones, with that the person can be supplied with artificial hormones, but the patient should still avoid some activities and stressful situations because it might lead to an adrenal crisis, overall the person with Addison’s Disease is expected to be able to live a fully normal life while taking and monitoring the hormones, the major targeted group is middle aged females, but overall Addison’s Disease affects a very small amount of people the but thankfully life expectancy of these people are still equal to healthy people.
