We observed a 22-year-old male patient with marked darkening of the skin, especially on the palms and areolae, jaundice on the skin and sclera, astheno-adynamia, hypotension (80/50 mm Hg), pain in the right hypochondrium. The physical examination revealed asthenic constitution, height 180 cm, body weight 55 kg, reduced facial and body hairs, reduced subcutaneous fat tissue, jaundice on the skin and visible linings, heart rate 105 bpm, enlarged liver, brownish spots on the gums and on the hands. The patient reported that several years ago he was treated with local antimycotic agents for alopecia areata and subsequently received local antimycotics for perioral rash and oral lesions.
The clinical-laboratory investigations revealed increased serum levels of total and indirect bilirubin, AST, ALT, GGT and LDH, low serum sodium and chlorides, but normal potassium, a mild increase in FT4 with increased TSH, very high morning ACTH levels with serum morning cortisol below the normal ranges, and normal testosterone. Whole blood count, biochemical studies, coagulation, glucose, iron, copper, iron-binding capacity, urine sediment, were normal at baseline and during the follow-up. The patient was HBsAg, anti-HBc IgM, anti-HCV and anti-HAV IgM negative.
The immunological investigations showed very low serum IgA levels (0.16 g/l) with normal IgG and IgM, negative ANA, ANCA, AMA, LKM-1 antibodies, antiGAD-60, anti-IA-2, anti-thyroglobulin antibodies, a mild increase in anti-TPO antibodies titer, a marked increase in IgG anti-tissue transglutaminase antibodies - 200 U/ml (Table 1), with no changes in cellular immunity (Th, Ts, B and NK cells with normal CD4/CD8 ratio), negative T-SPOT-TB test; HLA type - A*01; B*08; DRB1*03; DQB1*02; karyotype - 46, XY.
The thyroid ultrasound examination revealed normal homogenic glandular parenchyma, thyroid volume 7.8 ml. The abdominal ultrasound failed to visualize the adrenal glands. The liver biopsy showed no inflammation, no fibrosis.
The computed tomography (CT) of the brain revealed normal position and symmetrical narrowing of the ventricular system, narrowing of the subarachnoid spaces, normal hypothalamus and pituitary gland.
The patient was diagnosed with partial serum IgA deficiency together with primary hypocorticism (Addison's disease) based on typical skin darkening, astheno-adynamia, hypotension, very high ACTH levels with low morning serum cortisol, no CT changes in the hypothalamus and pituitary gland. He was treated with saline and glucose infusions, Mannitol, Famotidine, intravenous glucocorticosteroids (methylprednisolone 60-80 mg per day), Fludrocortisone 0.1 mg. The patient was discharged with improvement and remained on the following treatment: Dehydrocortisone 5 mg 1 + 1/4 tablet, Fludrocortisone 0.1 mg 1/2 tablet every morning (1/4 tablet in winter months).