Table 3.
Clinical and laboratory characteristics of 104 patients with cartilage-hair hypoplasia.
| Manifestations | No. of patients (%) | Comments |
|---|---|---|
| Recurrent sinopulmonary and/or ear infections Hospitalization and/or surgery required |
84/104 (81) 50/80 (63) |
Acute otitis media, rhinosinusitis and/or pneumonia Tympanostomy and/or sinus surgery |
| Physician-diagnosed asthma | 24/104 (23) | |
| Allergy to pollen and/or animal Positive allergy testing |
40/104 (39) 5/9 (56) |
Skin testing and/or allergen-specific serum IgE |
| Joint symptoms | 56/104 (54) | Arthralgia or morning joint stiffness |
| Arthrosis Juvenile rheumatoid arthritis |
20/56 (36) 1/56 (2) |
Confirmed radiologically Seronegative polyarthritis |
| Gastrointestinal symptoms Prolonged and/or recurrent diarrhea Dyspepsia |
32/104 (31) 23/32(72) 18/32 (56) |
|
| Gastroscopy performed Colonoscopy performed Chronic gastritis Duodenal villous atrophy |
18/32 (56) 8/32 (25) 5/18 (28) 3/18 (17) |
Normal results in eight (8/18, 44%) patients Normal in all except one case of ulcerative colitis Diagnosed on gastroscopy Diagnosed on gastroscopy |
| Anemia Red blood cell transfusion required AIHA |
32/104 (31) 13/32 (41) 2/32 (6) |
|
| Elevated IgE* | 5/69 (7) | |
| Elevated deamidated gliadin peptide IgA | 2/33 (6) | Values of 9 and 20 (normal < 7 U/ml) |
| Elevated deamidated gliadin peptide IgG | 2/33 (6) | Values of 10 and 14 (normal < 7 U/ml) |
| Elevated interferon ω IgG | 1/33 (3) | Value of 206 (normal < 200 Index) |
| Elevated 21-Hydroxylase IgG | 2/33 (6) | Values of 67 and 77 (normal < 57 Index) |
AIHA, autoimmune hemolytic anemia; Ig, immunoglobulin; No, number.
*
According to local laboratory age-adjusted reference values.