|Year : 2019 | Volume
| Issue : 3 | Page : 137-139
Polyglandular autoimmune syndrome diagnosed previously as an isolated primary adrenal insufficiency
Abdulraheem Abdullah Bahishwan1, Rasheed Mohammed Bamekhlah1, Mohammed Rasheed Bamekhlah2
1 Department of Medicine, College of Medicine and Health Sciences (HUCOM), Hadramout University, Mukalla, Hadramout, Republic of Yemen
2 Department of Medicine, Ibnseena Teaching Hospital, Mukalla, Hadramout, Republic of Yemen
|Date of Submission||23-Aug-2018|
|Date of Acceptance||25-Sep-2018|
|Date of Web Publication||23-Aug-2019|
Mohammed Rasheed Bamekhlah
P O Box No. 8892, Mukalla, Hadramout
Republic of Yemen
Source of Support: None, Conflict of Interest: None
A 32-year-old female patient diagnosed 3 years back as Addison's disease; she presented with vaginal candidiasis, oral thrush, fatigue and constipation, and the condition started since childhood and pre-puberty in succession. On examination, there were vitiligo and nail dystrophy. The investigations required done, which revealed hypoglycaemia, hypocalcaemia and hyperkalaemia; hormonal study gave a picture of primary adrenal and parathyroid insufficiency with euthyroidism. The patients finally proved to have mucosal candidiasis, primary hypoparathyroidism and Addison's disease with no thyroid abnormality. The case was diagnosed with autoimmune polyglandular syndrome (Type I).
Keywords: Adrenal insufficiency, hypoparathyroidism, polyglandular autoimmune syndrome
|How to cite this article:|
Bahishwan AA, Bamekhlah RM, Bamekhlah MR. Polyglandular autoimmune syndrome diagnosed previously as an isolated primary adrenal insufficiency. Hamdan Med J 2019;12:137-9
|How to cite this URL:|
Bahishwan AA, Bamekhlah RM, Bamekhlah MR. Polyglandular autoimmune syndrome diagnosed previously as an isolated primary adrenal insufficiency. Hamdan Med J [serial online] 2019 [cited 2019 Nov 22];12:137-9. Available from: http://www.hamdanjournal.org/text.asp?2019/12/3/137/246133
| Introduction|| |
Autoimmune polyglandular syndrome (APS) is a rare genetic disease that causes multiple endocrine disorders. In 1980, Neufeld et al. divided polyglandular autoimmune syndrome (PAS) into three subtypes, Type I, II and III. The vague presentation of multiple endocrine dysfunction can cause a delay in the diagnosis and treatment of life-threatening condition. We herein present a case with APS in a 32-year-old woman who was diagnosed partially with a primary adrenal insufficiency.
| Case Report|| |
A 32-year-old female, married, with two sons and a daughter, presented as an outpatient complaining of fatigue, dizziness, constipation and whitish patches in her mouth mainly on the upper surface of the tongue (oral thrush) for a long time but increased intensity a month before consultation (her parents were cousins). She was diagnosed as primary adrenal insufficiency (Addison's disease) 3 years ago when she was complaining of recurrent attacks of hypotension and hypoglycaemia, and the diagnosis was supported by low random serum cortisol and 250 μg adrenocorticotropic hormone (ACTH) stimulation test with high serum potassium level; thyroid function tests were normal. The patient was treated at that time with intravenous (IV) hydrocortisone which was changed to prednisolone and fludrocortisone with IV dextrose saline when needed.
There were neither neurological nor muscular symptoms, but she gave a history of recurrent vaginal candidiasis and oral thrush since childhood. On examination, she was conscious well-oriented looked pale with patches of vitiligo in many parts of the body with no jaundice or cyanosis. Supine blood pressure was 110/75, and in standing 105/70 mmHg, arterial pulse was 90 beats/min and body temperature was 37.5°C. There was nail dystrophy in many fingers and toes as well as hyperpigmentation of palmar creases. Trousseau's and Chvostek's signs were positive. The chest, heart and abdomen were otherwise free. Investigations are shown in [Table 1]. Chest X-rays, computed tomography of the brain and magnetic resonance imaging of the abdomen were done with no abnormality. A provisional diagnosis was done, i.e., PAS Type I. Serum cortisol level, short ACTH stimulation, parathyroid hormone, thyroid stimulation hormone (TSH), triiodothyronine (T3) and thyroxine (T4) tests were performed [Table 2], and the results supported the provisional to be the final diagnosis. Now, the patient is under long-life treatment in the form of oral prednisolone, fludrocortisone, calcium and other supplements. The patient condition improved, and she is under outpatient follow-up 6 monthly.
| Discussion|| |
The present case illustrates an example of APS, diagnosed 3 years back with an isolated Addison's disease, while the manifestations of other APS components were not apparent at the diagnosis or missed. Three years back, this patient due to her presentation with recurrent postural hypotension and occasional shock attacks associated with hypoglycaemia when investigated and diagnosed as primary adrenal insufficiency (Addison's disease). She looked for further medical consultation complaining of fatigue, dizziness and constipation, with mucocutaneous candidiasis since childhood. Clinical examination revealed latent tetany, vitiligo and nail dystrophy. An autoimmune multiple endocrinopathy was provisionally put as a diagnosis (APS) and investigations supported it.
There are three types of APS, APS I, APS II and APS III. Type II is relatively more common than the others with an incidence of 10–20/100,000 individuals/year, with male-to-female ratio of 1:3. The onset may occur in childhood but may appear through adulthood. It includes Addison's disease, autoimmune thyroid disease and Type 1 diabetes mellitus (T1DM). Our case had no thyroid dysfunction, clinically and by laboratory tests, therefore, this type can be excluded.
APS III is less common than APS II and composed of autoimmune thyroid disease with endocrinopathy other than adrenal insufficiency and classified into three subclasses, PAS Type III A (autoimmune thyroiditis with T1DM), PAS Type III B (autoimmune thyroiditis with pernicious anemia) and PAS Type III C (autoimmune thyroiditis with vitiligo and/or other organ-specific autoimmune disease such as celiac disease, organ nonspecific or systemic autoimmune diseases such as sarcoidosis and rheumatoid arthritis. The overt Addison's disease in our patient excluded this type.
APS I is characterised by a high degree of consanguinity and its incidence is <1 per 100,1000 individuals/year, male-to-female ratio is 3:4. It usually manifests in infancy, childhood at the age of 3–5 years or in early adolescence; and therefore, it is also called juvenile autoimmune polyendocrinopathy., Clinically, APS I at least two of the followings: autoimmune Addison's disease, chronic mucocutaneous candidiasis and idiopathic hypoparathyroidism; other manifestations include ectodermal dystrophy and vitiligo. Our case fulfills the diagnosis of APS I.
PAS Type I is extremely rare, and it is hereditary with autosomal recessive manner caused by mutations in the autoimmune regulatory gene. The syndrome appears usually early in life, typically starts with mucocutaneous candidiasis before 5 years of age, before 10 years of age, hypoparathyroidism appears and before the age of 15 years, Addison disease is the last component occurs.,
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. The patient understood that her name and initials will not be published.
All authors have read and approved the manuscript to be submitted for publication.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Michels AW, Gottlieb PA. Autoimmune polyglandular syndromes. Nat Rev Endocrinol 2010;6:270-7.
Neufeld M, Maclaren N, Blizzard R. Autoimmune polyglandular syndromes. Pediatr Ann 1980;9:154-62.
Kahaly GJ. Polyglandular autoimmune syndromes. Eur J Endocrinol 2009;161:11-20.
Papadopoulos KI, Hallengren B. Polyglandular autoimmune syndrome type II in patients with idiopathic Addison's disease. Acta Endocrinol (Copenh) 1990;122:472-8.
Betterle C, Greggio NA, Volpato M. Clinical review 93: Autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1998;83:1049-55.
Obermayer-Straub P, Strassburg CP, Manns MP. Autoimmune polyglandular syndrome type 1. Clin Rev Allergy Immunol 2000;18:167-83.
Betterle C, Dal Pra C, Mantero F, Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: Autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev 2002;23:327-64.
Sato K, Nakajima K, Imamura H, Deguchi T, Horinouchi S, Yamazaki K, et al.
Anovel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: Case report and review of the literature in Japan. Endocr J 2002;49:625-33.
Hansen MP, Matheis N, Kahaly GJ. Type 1 diabetes and polyglandular autoimmune syndrome: A review. World J Diabetes 2015;6:67-79.
[Table 1], [Table 2]