Authors :
Dr. Mohammed Faizal D; Dr. Nagarajan K
Volume/Issue :
Volume 9 - 2024, Issue 7 - July
Google Scholar :
https://shorturl.at/x7qx5
Scribd :
https://shorturl.at/TmyXc
DOI :
https://doi.org/10.38124/ijisrt/IJISRT24JUL258
Abstract :
Introduction:
Polyglandular deficiency syndromes reflects a wide
spectrum of disorders. Autoimmune polyglandular
syndrome (APS) is a rare condition generally divided
into two categories APS -1 and APS -2.
Case Report:
We report a case of APS-2 in a 28 years old male
with marfanoid habitus, presented with significant
weight loss, fever and hemoptysis. upon examination, he
had exophthalmos, pallor, marfanoid habitus with
systolic murmur in all cardiac areas and coarse
crepitation in left hemithorax. Laboratory evaluation
revealed left upper lobe pneumonia secondary to
Acinetobacter. Further evaluation revealed severe
hyperthyroidism, anti TPO, TRAB antibody was
elevated, megaloblastic anemia with atrophic gastritis
and positive 21 alpha hydroxylase.
Diagnosis:
The above findings were consistent with the
diagnosis of APS type 2 (Graves’ Disease, Adrenal
Insufficiency, Pernicious Anaemia, Vitiligo). The
presence of two or more endocrine deficiencies defines
APS-2 which may include graves’ disease, type 1 Dm,
primary adrenal insufficiency, hypogonadism and
features like pernicious anaemia, vitiligo and alopecia.
Conclusion:
Circulating antibodies may precede development of
clinical disease by many years but would allow clinician
to follow the patient and identify the disease onset at the
earliest.
Keywords :
APS, APS-2, Autoimmune Polyglandular Syndrome, Polyglandular Deficiency Syndrome.
References :
- Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158.
- Jameson JL, Fauci AS, Kasper DL, Hauser SL, Longo DL, Loscalzo J, eds. Harrison's Principles of Internal Medicine. 21th ed. McGraw Hill; 2022.
- Schmidt MB. Eine biglandulare Erkrankung (Nebennieren und Schilddruse bei Morbus Addisonni). Dtsch Pathol Ges 1926;21:212–21.
- Husebye ES, Anderson MS, Kämpe O. Autoimmune Polyendocrine Syndromes. N Engl J Med 2018;378:1132–41. 10.1056/NEJMra1713301
- Arya P V A, Kumar J, Unnikrishnan D, et al. Case of autoimmune polyglandular syndrome type 2: how we uncovered the diagnosis. BMJ Case Reports CP 2019;12:e227187.
- Abdullah I, Bdaiwi A S, Wess M, et al. (June 25, 2022) Atypical Case of Schmidt’s Syndrome in a Young Male. Cureus 14(6): e26322. DOI 10.7759/cureus.26322
Introduction:
Polyglandular deficiency syndromes reflects a wide
spectrum of disorders. Autoimmune polyglandular
syndrome (APS) is a rare condition generally divided
into two categories APS -1 and APS -2.
Case Report:
We report a case of APS-2 in a 28 years old male
with marfanoid habitus, presented with significant
weight loss, fever and hemoptysis. upon examination, he
had exophthalmos, pallor, marfanoid habitus with
systolic murmur in all cardiac areas and coarse
crepitation in left hemithorax. Laboratory evaluation
revealed left upper lobe pneumonia secondary to
Acinetobacter. Further evaluation revealed severe
hyperthyroidism, anti TPO, TRAB antibody was
elevated, megaloblastic anemia with atrophic gastritis
and positive 21 alpha hydroxylase.
Diagnosis:
The above findings were consistent with the
diagnosis of APS type 2 (Graves’ Disease, Adrenal
Insufficiency, Pernicious Anaemia, Vitiligo). The
presence of two or more endocrine deficiencies defines
APS-2 which may include graves’ disease, type 1 Dm,
primary adrenal insufficiency, hypogonadism and
features like pernicious anaemia, vitiligo and alopecia.
Conclusion:
Circulating antibodies may precede development of
clinical disease by many years but would allow clinician
to follow the patient and identify the disease onset at the
earliest.
Keywords :
APS, APS-2, Autoimmune Polyglandular Syndrome, Polyglandular Deficiency Syndrome.
