TABLE 1.
Demographic, Clinical, and Laboratory Features of Patients With APECED and With and Without APAH at the Time of NIH Evaluation
| Characteristic | All Patients | Patients With APAH | Patients Without APAH | P Value |
|---|---|---|---|---|
| Number of patients | 43 | 18 | 25 | N/A |
| Median age at NIH evaluation (years) | 20 (16-32) | 19 (14-23) | 24 (15-38) | 0.5 |
| Median age at diagnosis of hepatitis (years) | 7.8 (3.5-14) | 7.8 (3.5-14) | N/A | N/A |
| Female sex | 27 (63) | 13 (72) | 14 (56) | 0.35 |
| Ethnicity: | ||||
| Caucasian | 42 (98) | 18 (100) | 24 (96) | |
| Hispanic | 5 (12) | 3 (17) | 2 (8) | |
| Asian | 1 (2) | 0 (0) | 1 (4) | |
| Classic triad manifestations | ||||
| CMC | 37 (86) | 15 (83) | 22 (88) | 0.68 |
| HP | 38 (88) | 15 (83) | 23 (92) | 0.63 |
| AI | 37 (86) | 14 (83) | 23 (92) | 0.22 |
| Other nontriad manifestations | ||||
| Enamel hypoplasia | 37 (86) | 17 (94) | 20 (80) | 0.37 |
| Hypothyroidism | 12 (28) | 4 (22) | 8 (32) | 0.73 |
| Growth hormone deficiency | 7 (16) | 4 (22) | 3 (12) | 0.43 |
| DM type 1 | 6 (14) | 4 (22) | 2 (8) | 0.22 |
| Hypogonadism | 17 (40) | 6 (33) | 11 (44) | 0.54 |
| Gastritis | 20 (47) | 10 (56) | 10 (40) | 0.37 |
| Pernicious anemia | 12 (28) | 5 (28) | 7 (28) | >0.99 |
| Intestinal dysfunction | 33 (77) | 17 (94) | 16 (64) | 0.03 |
| Keratoconjunctivitis | 15 (35) | 6 (33) | 9 (36) | >0.99 |
| APECED rash | 28 (65) | 16 (89) | 12 (48) | 0.01 |
| Vitiligo | 17 (40) | 9 (50) | 8 (32) | 0.34 |
| Alopecia | 11 (26) | 4 (22) | 7 (28) | 0.74 |
| Nail dystrophy | 13 (30) | 5 (28) | 8 (32) | >0.99 |
| Pneumonitis | 17 (40) | 11 (61) | 6 (24) | 0.03 |
| Sjogren-like syndrome | 20 (47) | 9 (50) | 11 (44) | 0.76 |
| TIN | 2 (5) | 0 (0) | 2 (8) | 0.50 |
| HTN | 10 (23) | 2 (11) | 8 (32) | 0.15 |
| Asplenia | 4 (9) | 3 (17) | 1 (4) | 0.29 |
| Laboratory values | ||||
| ALT (U/L) | 22 (17-30) | 22 (18-33) | 25 (17-26) | 0.58 |
| AST (U/L) | 23 (17-30) | 23 (16-36) | 23 (19-25) | 0.53 |
| ALP (U/L) | 109 (75-181) | 141 (78-227) | 106 (70-166) | 0.11 |
| ALP% (age and sex adjusted normal) | 64 (53-89) | 80 (64-120) | 57 (48-73) | 0.03 |
| GGT (U/L) | 15 (12-26) | 15 (13-32) | 15 (11-24) | 0.48 |
| Total bilirubin (mg/dL) | 0.3 (0.2-0.5) | 0.3 (0.2-0.5) | 0.3 (0.2-0.5) | 0.88 |
| Direct bilirubin (mg/dL) | 0.2 (0.1-0.2) | 0.2 (0.2-0.2) | 0.2 (0.1-0.2) | 0.48 |
| Albumin (g/dL) | 4.1 (3.8-4.3) | 4.0 (3.8-4.2) | 4.2 (4.0-4.4) | 0.06 |
| ESR (mm/hour) | 12 (7-18) | 14 (10-18) | 10 (5-16) | 0.06 |
| CRP (mg/L) | 2.15 (0.7-7.27) | 0.6 (0.5-5.6) | 5.1 (0.8-7.3) | 0.24 |
| IgG (g/dL) | 1,070 (894-1,313) | 1,250 (902-1,610) | 1,050 (892-1,170) | 0.10 |
| Platelets (K/μL) | 266 (202-339) | 261 (225-376) | 274 (202-330) | 0.65 |
| INR | 1.04 (0.99-1.11) | 1.07 (0.99-1.12) | 1.04 (0.98-1.11) | 0.36 |
| Ferritin (μg/L) | 33 (14-72) | 38 (14-65) | 29 (13-107) | 1.0 |
| Autoimmune biomarkers | ||||
| ANA (+) | 7 (16.3) | 2 (11.1) | 5 (20) | 0.68 |
| ASMA (+) | 0 (0) | 0 (0) | 0 (0) | N/A |
| Anti-LKM (+) | 0 (0) | 0 (0) | 0 (0) | N/A |
| AMA (+) | 0 (0) | 0 (0) | 0 (0) | N/A |
Data are presented as n (%) or median (IQR).
Abbreviations: AMA, antimitochondrial antibody; DM, diabetes mellitus; HTN, hypertension; IgG, immunoglobulin G; IQR, interquartile range; N/A, not applicable; TIN, tubulointerstitial nephritis.