Name of Student
P.K is an old female patient of 55 years old; diagnosed with Addison disease, in September, having a 9-months persistent history of vomiting ranging from 5-15 times on a daily basis, she presented symptoms of increasingly darkened skin tone, weight loss, dizziness, fatigability, dehydration, and had inability to partake oral insemination due to her nauseating and vomiting predicaments. Basing on her bowel habits and motions they appeared to be normal, and thus having no signs of blurry visions, any loss of awareness, and problems with urination. However, P.K’s weight had continued to reduce significantly from the preceding months, previously, P.K had been referred to a gastroenterologist for a condition known as hypothyroidism, while at the premises; she went through esophagogastroduodenoscopy (OGD) that helped in the detection of gastritis thus making her started on proton pump inhibitor as a form of therapy. Apart from that, P.K’s medical history did not highlight any abnormalities whatsoever to insinuate the occurrence of disease stated above.
On the one hand from the practitioner’s point of view, P.K exemplified an aging woman who had a pale skin tone, debility, with dense hyperpigmentation on her face; she also had an oral mucous membrane, and while comparing her appendages, P.K had palmar creases as well as knuckles. On the other hand, P.K did not highlight any features arising from malnutrition and hypovitaminuous, neither did she significantly project peripheral abnormal enlargements of her lymph nodes. P.K then underwent a blood test, which detected different antibodies including transglutaminase as the negative tissues, besides; positive gastric parietal cells were also exposed. For these reason, P.K got booked for a CT enterograph.
According to systematic examinations, P.K’s major deductions included a pulse of 107 bpm, a combination of both regular and small illustrated BP 100/60 mm Hg while lying on her back/ supine and 70/40 mm Hg while seated. Likewise, P.K was not able to stand up because of the severity of her postural dizziness, her apex was completely normal as well as her Fundus from fundoscopy. On the whole, P.K’s systems were functionally normally which further led to clinical examinations for Addison’s disease to investigate paraneoplastic syndromes.
*ESR administration at 58mm/hr*
Normal red cell morphology
Fasting blood sugar 76mg%
Total serum protein 7.8g/L (albumin 3.4/L and globulin 4.4/L)
Plasma cortisol at 0 min undetected and at 30 min with cosynthropin administration 0.25mg
Plasma renin not possible to estimate
Aldosterone were not possible to estimate
*Abdominal ultra sound*
Normal organs but the kidney wasn’t outlined.
*Computerized tomographies scan (CT)*
Suprarenal mass with an oval shape and calcification
Ipsilateral hypo-plastic left kidney which was still functioning
Undetectable ascites and abdominal lymph nodes
Brain was normal
Ten days after P.K was admitted, she developed further vomiting, fever, extreme lethargy and nausea.
Reduced volume pulse rates
BP 70/40 mm/Hg
Blood film highlighted trophozoites (plasmodium falciparum)
Blood cultures detected no growth.
*Tabulated investigations *
Packed cell volume
White blood cell (WWC)
Bilirubin in total
3.5mmo/L (3.4-5.3mmo/L is normal)
129mmo/L (133-146mmo/L is normal)
Fasting blood sugar
5mmo/L( 4-6mmol/L is normal)
Creative protein (CRP)
16 (<5) TSH 33mU/L (0.27-4.2mU/L is normal) (Sediment rate) P.K’s medical history, nine months before the aforementioned examination illustrated significant weight loss, tachycardic and hyposentive signals, besides, ten days into her medical examinations she begun to further develop vomiting, fever, extreme lethargy and nausea; not forgetting she got booked for a CT enterograph. Immediate concerns are raised on the basis of the presence of anaemia because of 10gm/L haemoglobin rates with a normal red cell structure. As well, P.K’s positive parietal cell antibodies possibly mean the occurrence of autoimmune polyendocrine syndrome; her sodium levels were lower than expected at 129mmo/L, wherefore, 133-146mmo/L is the normal rate, still fasting blood sugar ranged at 75mg%, and notwithstanding the total serum protein stood at 7.8g/L. Through the plasma cortisol test, plasma cortisol remained undetectable as at 0 minutes, yet detected at 30 minutes from a cosyntropin examination, which showcased 0.26 mg. Further diagnostic initiatives by a radiologist presented findings on normal organs with a missing outline of the left kidney. The CT scan performed highlighted the presence of an oval shaped calcareous substance and a hypo-plastic liver situated in ipsilateral form. Without the presence of ascites or abdominal lymph nodes the conclusion therefore was the lack of adenoma or adrenocortical carcinoma. Thus there were no chances of development of tuberculous adrenalitis. However, anomalous findings from the CT scan further suggested the presence of adrenal tuberculosis, leading to an intervention through prescription of anti-tuberculosis drugs. As detected from cardiovascular examination, the presence of trophozoites with no growth as per the blood cultures initiated prescription of anti-malarial, hydrocortisisone and antibiotics. Since then, P.K made substantial recovery outcomes which were further maintained by oral prednisolone along with fludrocortisone. It should be noted that initial findings from P.K’s medical attention stood at episode 3 conditionings of Addisonian state which had been fueled up by precipitating factors, and thus, symptoms such as shock, acute malarial infections, respiratory tract infections on the upper side and gastroenteritis were managed by the use of intravenous fluids, supplemental glucose, anti-malarials and other antibiotics. Thereafter, each of the aforementioned episodes subsided with no signs of neurological deficit, all this facilitated further interventions such as health education and counselling initiatives to the victim and close relatives. These methods, at their best, help in enlightening and preventing Addisonian crisis and thus from the outcome P.K remains in good health with few superseding interventions to bring lightened skin pigmentation or treat forthcoming clinical symptomatology; they range from oral prednisolone, on a daily basis anti-tuberculosis medication and fludrocortisone Precipitating Factors Adison disease was first outlined by Thomas Addison as the clinical specifications of primary adrenal inadequacy which may appear as a result of other superseding pathological processes, the foremost criterion used in distinguishing the state from other types of adrenal- insufficiency is the primal adreno-cortical insufficiency. This form may sprout from pituitary and hypothalamic conditions as a result of decreased secretion of adrenocorticotrophic hormone (ACTH) or consequent adrenal cortex reduction in functionality. Currently, major causes identified are autoimmune as well as tuberculosis adrenalitis; tuberculosis is also to be regarded as a causal factor to Addison disease in regions where it is endemic, others covered are metastatic neophalsia , infections from fungus, congenital hyperplasia-adrenoleukodystrophy. The manifestation of Addison’s disease could come in different forms, either through non-specific clinical or biochemical characterization. The most explicit sign for detecting primary adrenal insufficiency is hyperpigmentation of the skin, weight loss, fatigue and mucosal membranes. A study conducted by () reported hyperpigmentation (89%), abdominal pain (15%), weight loss (70%), and diarrhea (17%) in a period of 18 years with 60 patients; it was concluded that the suspicion index in diagnosis is very high. Moreover, a report compiled on this crisis by () on 40 patients resulted in hyponatremic (78%), hyperkalaemic (53%), hypoglycemia (18%), in most cases, hyponatremia and hypokalemia are the major findings for this insufficiency. P.K’s case was different in that the serum levels of electrolytes and plasma glucose were generally normally and thus it is possible for other patients to have normality too. Since Addison disease is a rare condition, affecting around 4 million people in the west, it is easy to misdiagnose a patient because of its presentation without specific symptoms. The delay brought upon patients is evident as one would note them visiting different other healthcare practitioners such as gastroenterologists or even psychiatrists before they get the correct diagnosis. In most cases, most of the presented symptoms appear to be similar to other conditions; features such as skin and the mucous membrane pigmentation do not always appear to be present, as well, anorexia and hypertension could be regarded as crucial, yet, they still are explained as underlying infections by other alternative professional diagnosis. Only through various investigations can a clinician successfully detect the stated disease, this examinations provide clues through routine blood tests for signs such as hyponatremia, eosinophilia and hypoglycemia. However, through a first administration of the Thyroid-Stimulating Hormone test (TSH) to speculate raised TSH may or may not be a feature used in detecting Addison disease as the condition could get worsened as a result of starting thyroxine. A normalized CT scan finding is a proven methodology to prove the case of Addison’s disease. In () study, thirty patients were performed on and normality was evident from 16 patients, however, anomalous bilateral enlargements were detected from 14 patients with calcifications and atrophic changes in two and one respectively. Such information facilitated by the CT scans form a crucial background in etiological examinations of Addison’s disease, wherefore, it is advisable for a clinician to perform CT scans of new patients on their abdomen. In similar cases, the deformation of adrenal cortex would exemplify autoimmune adrenalitus as the commonest precipitating factor for primary adrenal insufficiency. However, P.K, in this case, suffered from tuberculosis adrenalitis since calcifications were observed from her right adrenal gland. If the aforementioned procedures do not yield results a medical practitioner may consider an examination of a random cortisol level, by watching the circadian rhythm that is influenced by cortisol production, evaluations could be done during early morning hours and during midnight for low levels not withholding, an increase in its production during stressing times. However, this methodology may be hampered by the fact that circadian rhythm could be inaccurately defined, but unusualness evident in the midst of Addison disease symptoms is a red flag to promptly diagnose a patient using the trials of hydrocortisone. Besides, rather than administering steroids prior to full examinations, a clinician should first collect Cortisol and adrenocorticotrophic (ACTH) levels, since, in the case of synacthen test, a crucial examination, accurate diagnosis may be hindered by intravenous hydrocortisone. Synatchen and tetracosactin could be administered in a crisis that is non –acute, either through intravenous or intramuscular. This test is administered in the form of taking baseline cortisol rates at 0 min then followed by tetracosactrin 250ug after 30 min and taking the records, an intact adrenal gland functioning well will vary between 400-550 nmol/L. Considerably, most victims suffering from Addison are usually detected in an acute situation, for instance, medical emergencies resulting from precipitating factors such as stress or infections and patients who once were inadequately treated. In such cases of a medical emergency, patients will show hypotension, circulatory shock and severe dehydration levels. There are autoimmune associations from Thomas Addison’s description of this state, he speculated pernicious anaemia and vitiligo; about half of Addison disease patients have an autoimmune disease embedded with their condition where in most cases is a thyroid disease. Conditions such as atrophic gastritis, coeliac disease, vitiligo, and thyroid condition raise an alarm for another autoimmune examination should a patient’s medical history consist of those conditions. For instance, during the period when P.K sought for medication, she already had positive gastric cell antibodies and hypothyroidism. Autoimmune Polyendocrine Syndrome (APS) APS is mainly described as insufficiency arising from the endocrine glands as a result of autoimmune diseases, but could also be used in the description of other syndromes that are characterized by an association of multiple organ specific malfunctions. Furthermore, APS is broken down into APS type I which constitutes genetically inherited autoimmune regulator (AIRE) gene and APS type II consisting of polygenic inheritances. While different scholars further classified the syndrome stated above, APS type I and II are the main forms based on numerous clinical findings. APS type I is an autosomal receding condition consisting an association of hypoparathyroidism, Addison disease, as well as Addison’s disease; examples of other conditions would range from pernicious anemia, vitiligo, and diabetes mellitus type 1 and hepatitis. On the other hand, APS type II also referred to as Schmidt’s syndrome is the most common and it associates with Addison’s disease, autoimmune thyroid disorder and insulin dependent diabetes mellitus, only in rare cases does pernicious anaemia associate with this type. Signs and Symptoms *Early symptoms* · Fatigue · Muscle weakness · Weight loss · Loss of appetite · Increased thirst · Dizziness · Fainting · Cramps · Exhaustion · Darkened skin tone · Lethargy · Dehydration · Body hair loss · Sexual dysfunction in women · Salt craving · Reduced heart rate · Hypoglycemia *Later symptoms and severity* · Low blood pressure · Nausea · Vomiting · Diarrhea · Abdominal pain · Muscle cramps · Chronic exhaustion · Depression · Hyperpigmentation · Rapid shallow breathing · Headache · Loss of consciousness · Sweating · Oral mucous membrane · Goiter/ associated vitiligo · Postural hypotension · Hyperkalemia · Hyponatremia · Blood sugar · Confusion · Fear · Restlessness *Diagnosis symptoms* · ESR blood test detection of transglutaminase as the negative tissues and positive gastric parietal cells. · Abdominal ultra sound illustrated normal organs but the kidney wasn’t outlined · Computerized topographies scan (CT) deducted a suprarenal mass with an oval shape and calcification, ipsilateral hypo-plastic left kidney and undetectable ascites and abdominal lymph nodes · Cardiovascular examination detection of reduced volume pulse rates Cellular Analysis Adrenal dysgenesis being the composition of different genes is responsible for the development of adrenal cortex. While it constitutes nuclear hormone receptor genes such as SF-1, Xp21(DAX-1), and ACTH receptor, occurrence of mutations on DAX-1 a dosage adrenal hypoplasia results in adrenal hypoplasia as well as hypogonadism. Besides, the protein gene helps in the development of hypothalamus, urogenital ridge and anterior pituitary gland colocalizes with SF-1 gene at these sites. These two nuclear hormone receptors have the potential to coregulate as well as be among the components of a regulatory cascade which is required for the normal development of adrenals and hypothalamus glands. Congenital adrenal hypoplasia (ACH), is a condition where adrenal cortices have impaired development this way presenting an autosomal recessive form or sporadic forms in association with pituitary hypoplasia, ACH has an association with hypogonadotrophic hypogonadism and glycerol kinase deficiency. Should the X-linked cytomegalic forms mutated with DAX-1 gene, then variance in presentation of adrenal insufficiency shall occur from birth and later in life. Other occurrences may include, cryptorchidism, loss of mineralocorticoid functions having preserved cortisol responses. Adrenal hypoplasia being part of contiguous gene deletion syndrome is a form of X-linked adrenal insufficiency which when associated with glycerol kinase deficiency results into hyperthelorism, muscular dystrophy or psychomotor retardation. According to findings from the genetic locus the condition was mapped to Xp21, where other conditions such as ornithine transcarbamylase deficiency, Duchenne muscular dystrophy and mental retardation feature. In most cases patients appear to have closely flanking gene References Saevik, Å. B., Åkerman, A. K., Grønning, K., Nermoen, I., Valland, S. F., Finnes, T. E., ... & Skov, J. (2018). Clues for early detection of autoimmune Addison's disease–myths and realities. *Journal of internal medicine*, *283*(2), 190-199. Puttanna, Amar et al. “Addison's disease and its associations.” *BMJ case reports* vol. 2013 bcr2013010473. 26 Jul. 2013, doi:10.1136/bcr-2013-010473 Hellesen, A., Bratland, E., & Husebye, E. S. (2018, June). Autoimmune Addison's disease–An update on pathogenesis. In *Annales d'endocrinologie* (Vol. 79, No. 3, pp. 157-163). Elsevier Masson. Fichna, M., Żurawek, M., Gryczyńska, M., Sowińska, A., Nowak, J., & Ruchała, M. (2016). Polymorphic variants of the HSD11B1 gene may be involved in adverse metabolic effects of glucocorticoid replacement therapy in Addison's disease. *European journal of internal medicine*, *31*, 99-104.