Autoimmune polyglandular syndrome type 2 - a case report

2014 ◽  
Vol 21 (1) ◽  
pp. 25-28
Author(s):  
Diana Bănică ◽  
Ramona Frăţilă ◽  
Alexandra Sima ◽  
Adrian Vlad ◽  
Romulus Timar

Abstract Autoimmune polyglandular syndromes are characterized by the association of two or more autoimmune diseases. They are classified into two major subtypes, each having its own characteristics. The autoimmune polyglandular syndrome type 2 is defined by the presence of at least two of the following diseases: Addison’s disease, type 1 diabetes mellitus and thyroid autoimmune disease. Other autoimmune diseases belonging to the autoimmune polyglandular syndrome type 2 are: primary hypogonadism, myasthenia gravis, celiac disease, pernicious anemia, alopecia, vitiligo. We are going to present the case of a patient, aged 40, with diabetes mellitus (probably latent autoimmune diabetes of the adult), chronic autoimmune thyroiditis and celiac disease.

Author(s):  
Rania Alsayed Murad ◽  
Ashraf Alakkad ◽  
Anwar Adwan ◽  
Mikdam Al Ramahi

A 60-year-old male patient, weighing 40 kg, having a BMI of 13, who was also a known case of Diabetes Mellitus Type II was shifted to the Orthopaedic Ward last month due to a fall, which led him to develop an intertrochanteric fracture in the femur. While the treatment of the patient was in an ongoing status for his fracture, his Diabetes was seen to be poorly controlled, with his blood glucose levels being constantly evaluated to be in a state of severe hypoglycaemia to slightly increased levels of blood glucose. On examination, the patient showed clear signs of being malnourished. He was in a bad and dishevelled state, he had creases on the palmar aspects of his hands and hyperpigmentation on his buccal mucosa. Furthermore, his lab reports revealed abnormalities in nearly every lab test ordered. Not only did he have elevated ACTH levels, but there was also a failure of Cortisol stimulation. His DEXA Scan showed that he was predisposed to develop severe osteoporosis and his malnourished condition was supportive of promoting that condition even more. The patient was diagnosed to be suffering from Autoimmune Polyglandular Syndrome, Type II. This is a rare condition of one of its kind where there is a pre-existence of autoimmune adrenal insufficiency along with either autoimmune thyroid disease or autoimmune diabetes mellitus. Since this condition is rare, it tends to often get overlooked upon diagnosis, leading to misdiagnosis because almost all of the presenting features or the symptoms of the prevalent endocrinological disorders present in this condition mimic either hypothyroidism, or diabetes, or adrenal insufficiency alone, and thus lead to further consequences when the condition does not resolve despite persistent treatment, such as the case in this patient. This paper reviews the background of the patient and the causes that possibly could have made him reach this advanced stage of the disease. The paper also reflects upon the disease, Autoimmune Polyglandular Syndrome Type II, as a whole and elaborates on the symptoms and signs which the patient tens to confuse with other endocrinological diseases. Lastly, this paper shall also review the appropriate management plan for the patient to ease his symptoms and accelerate his recovery process.


2019 ◽  
Vol 65 (12) ◽  
pp. 1434-1437 ◽  
Author(s):  
Sofia Costa Martins ◽  
Gabriela Venade ◽  
Mónica Teixeira ◽  
João Olivério ◽  
João Machado ◽  
...  

SUMMARY Autoimmune polyglandular syndrome type 2 (APS 2) is defined by the presence of Addison’s disease (AD) associated with autoimmune thyroid disease and/or Type 1 diabetes mellitus (T1DM). It is a rare disease, affecting about 1.4-2 cases/100,000 inhabitants. Its less frequent clinical presentation is the combination of AD, Graves‘ disease, and T1DM. We present the case of a 42-year-old woman with a history of total thyroidectomy due to Graves’ disease, type 2 diabetes mellitus, and hypertension, who sought the ED due to asthenia, dizziness, nausea, and vomiting. She reported having stopped antihypertensive therapy due to hypotension and presented a glycemic record with frequent hypoglycemia. On physical examination, she had cutaneous hyperpigmentation. She had no leukocytosis, anemia, hypoglycemia, hyponatremia or hyperkalemia, and a negative PCR. Serum cortisol <0.5 ug/dl (4,3-22,4), urine free cortisol 9 ug/24h (28-214), ACTH 1384 pg/mL (4,7-48,8), aldosterone and renin in erect position of 0 pg/ml (41-323) and 430.7 uUI/ml (4.4-46.1) respectively. Quantiferon TB was negative; computerized axial tomography of the adrenals showed no infiltrations, hemorrhage, or masses. The 21-hydroxylase antibody assay was positive. B12 vitamin was normal, anti-GAD antibodies were positive, anti-insulin, anti-IA2, and anti-transglutaminase antibodies were all negative. The patient started insulin therapy and treatment for AD with prednisolone and fludrocortisone with good clinical response. This case aims to alert to the need for high clinical suspicion in the diagnosis of AD. Since this is a rare autoimmune disease, it is important to screen for other autoimmune diseases in order to exclude APS.


2019 ◽  
Vol 27 (124) ◽  
pp. 47-51
Author(s):  
Shahin Besharati ◽  
Pouria Tavakkolian ◽  
Roghayeh Borji ◽  
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2020 ◽  
Vol 96 (1139) ◽  
pp. 543-549
Author(s):  
Donatella Macchia ◽  
Donatella Lippi ◽  
Raffaella Bianucci ◽  
Simon Donell

President John F. Kennedy (JFK) had a complex medical history that is now thought to be an autoimmune polyglandular syndrome type 2 with Addison’s disease and hypothyroidism. He also had gastrointestinal symptoms from adolescence, which now fit well with coeliac disease. In addition, he had a chronic back problem, which contributed to a chronic pain syndrome. This review looks at JFK’s various diseases and focusses on the history of coeliac disease, as well as its presentation. JFK’s Irish ancestry supports the hypothesis of a coeliac disease started early in his youth.


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