A Case of Critical Lower-Limb Ischemia in a 29-Year-Old Man with Autoimmune Polyglandular Syndrome Type 1 (APS-1)

被引:0
作者
Ennab, Raed M. [1 ]
Saadeh, Nesreen A. [2 ]
机构
[1] Yarmouk Univ, Dept Clin Sci, Irbid, Jordan
[2] Jordan Univ Sci & Technol, Dept Internal Med, Irbid, Jordan
关键词
Addison Disease; Angioplasty; Candidiasis; Chronic Mucocutaneous; Hypoparathyroidism; Peripheral Arterial Disease; Polyendocrinopathies; Autoimmune; POLYENDOCRINE SYNDROME TYPE-1; SYNDROME TYPE-I; VASCULAR CALCIFICATION; CANDIDIASIS; MECHANISMS; REGULATOR; AUTOANTIBODIES; MUTATIONS; DISEASE;
D O I
10.12659/AJCR.924705
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Patient: Male, 29-year-old Final Diagnosis: Autoimmune polyglandular syndrome type 1 Symptoms: Left foot redness and swelling Medication: - Clinical Procedure: Angioplasty Specialty: Endocrinology and Metabolic . Surgery Objective: Rare disease Background: Autoimmune polyglandular syndrome type 1 (APS-1) is an extremely rare autoimmune disorder with an autosomal recessive inheritance pattern. Its manifestations present in chronological sequence of the components mucocutaneous candidiasis, Addison disease, and hypoparathyroidism. Vascular calcification is a very rare manifestation of the disease, and it may be severe, causing critical lower-limb ischemia and significant morbidity. To the best of our knowledge, this is the first such case to be reported in Jordan and the Arab region. Case Report: We present the case of a 29-year-old patient diagnosed with autoimmune polyglandular syndrome type 1 (APS-1). He has Addison disease, hypoparathyroidism, and mucocutaneous candidiasis. He presented with features of critical lower-limb ischemia and bacterial infection of the left foot. The patient underwent a successful angioplasty, and received management of his bacterial and fungal infections and the chronic endocrinopathies. Conclusions: Autoimmune polyglandular syndrome type 1 (APS-1) is a very rare disorder. Recognizing its syndromic nature will facilitate an active search for the component diseases and the possible complications, which would allow early diagnosis and management. This applies to the rare vascular complications, which can lead to significant morbidity.
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页码:1 / 5
页数:5
相关论文
共 28 条
  • [1] Agarwal Pooja, 2015, Indian J Endocrinol Metab, V19, P785, DOI 10.4103/2230-8210.167545
  • [2] A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1
    Bruserud, Oyvind
    Oftedal, Bergithe E.
    Landegren, Nils
    Erichsen, Martina M.
    Bratland, Eirik
    Lima, Kari
    Jorgensen, Anders P.
    Myhre, Anne G.
    Svartberg, Johan
    Fougner, Kristian J.
    Bakke, Asne
    Nedrebo, Bjorn G.
    Mella, Bjarne
    Breivik, Lars
    Viken, Marte K.
    Knappskog, Per M.
    Marthinussen, Mihaela C.
    Lovas, Kristian
    Kampe, Olle
    Wolff, Anette B.
    Husebye, Eystein S.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2016, 101 (08) : 2975 - 2983
  • [3] Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    Constantine, Gregory M.
    Lionakis, Michail S.
    [J]. IMMUNOLOGICAL REVIEWS, 2019, 287 (01) : 103 - 120
  • [4] Inflammatory, Metabolic, and Genetic Mechanisms of Vascular Calcification
    Demer, Linda L.
    Tintut, Yin
    [J]. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2014, 34 (04) : 715 - 723
  • [5] Polyglandular autoimmune syndromes: Immunogenetics and long-term follow-up
    Dittmar, M
    Kahaly, GJ
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (07) : 2983 - 2992
  • [6] Dominguez M, 2006, J PEDIATR ENDOCR MET, V19, P1343
  • [7] Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    Ferre, Elise M. N.
    Rose, Stacey R.
    Rosenzweig, Sergio D.
    Burbelo, Peter D.
    Romito, Kimberly R.
    Niemela, Julie E.
    Rosen, Lindsey B.
    Break, Timothy J.
    Gu, Wenjuan
    Hunsberger, Sally
    Browne, Sarah K.
    Hsu, Amy P.
    Rampertaap, Shakuntala
    Swamydas, Muthulekha
    Collar, Amanda L.
    Kong, Heidi H.
    Lee, Chyi-Chia Richard
    Chascsa, David
    Simcox, Thomas
    Pham, Angela
    Bondici, Anamaria
    Natarajan, Mukil
    Monsale, Joseph
    Kleiner, David E.
    Quezado, Martha
    Alevizos, Ilias
    Moutsopoulos, Niki M.
    Yockey, Lynne
    Frein, Cathleen
    Soldatos, Ariane
    Calvo, Katherine R.
    Adjemian, Jennifer
    Similuk, Morgan N.
    Lang, David M.
    Stone, Kelly D.
    Uzel, Gulbu
    Kopp, Jeffrey B.
    Bishop, Rachel J.
    Holland, Steven M.
    Olivier, Kenneth N.
    Fleisher, Thomas A.
    Heller, Theo
    Winer, Karen K.
    Lionakis, Michail S.
    [J]. JCI INSIGHT, 2016, 1 (13):
  • [8] Anticommensal Responses Are Associated with Regulatory T Cell Defect in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients
    Hetemaki, Iivo
    Jarva, Hanna
    Kluger, Nicolas
    Baldauf, Hanna-Mari
    Laakso, Sini
    Bratland, Eirik
    Husebye, Eystein S.
    Kisand, Kai
    Ranki, Annamari
    Peterson, Part
    Arstila, T. Petteri
    [J]. JOURNAL OF IMMUNOLOGY, 2016, 196 (07) : 2955 - 2964
  • [9] Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1
    Humbert, Linda
    Cornu, Marjorie
    Proust-Lemoine, Emmanuelle
    Bayry, Jagadeesh
    Wemeau, Jean-Louis
    Vantyghem, Marie-Christine
    Sendid, Boualem
    [J]. FRONTIERS IN IMMUNOLOGY, 2018, 9
  • [10] Vascular calcification - Pathobiological mechanisms and clinical implications
    Johnson, Rebecca C.
    Leopold, Jane A.
    Loscalzo, Joseph
    [J]. CIRCULATION RESEARCH, 2006, 99 (10) : 1044 - 1059