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

Abstract

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.

Figure 1.

The feet of the patient on admission: (A) The right foot showing signs of chronic candidiasis of the nails, including discoloration, dystrophy, and brittle nails. (B) The left foot showing signs of acute infection, chronic candidiasis, dystrophy of nails, and signs of critical ischemia, including the amputated 4^th toe and gangrene of the tip of the 1^st toe.

Figure 2.

The left hand of the patient on admission showing signs of chronic candidiasis of the nails, including discoloration, dystrophy, and brittle nails.

Figure 3.

CT angiography of the abdominal aorta and lower limbs on admission showing the heavy calcifications of the arteries, which appear as hyperdense white areas. (A) CT angiography MIP (maximum intensity projection). (B) Magnification and focus on the popliteal area of the MIP image. (C) CT angiography VIP (volume intensity projection). (D) Magnification and focus on the popliteal area of the VIP image. The arrows in (B, D) point to the site of severe stenosis in the popliteal artery.