Table 3.
Problems in classic A–T patients beyond the age of 30 years
| Category | Problem |
N in 7 Dutch patients (present/reported)a |
N in 14 literature patients (present/reported)a |
|---|---|---|---|
| General | Progeric features of skin and hair | 4/4 | 4/4 |
| Malignancy | 3/7 | 7/12 | |
| Solid | 2/3 | 2/7 | |
| Haematological | 1/3 | 5/7 | |
| Pulmonary | Severe lung infections in adulthood | 2/6 | 6/9 |
| Restrictive lung disease | 4/4 | 0/0 | |
| Tachypnea and/or tachycardia | 7/7 | 3/3 | |
| Immunology | IgG2 deficiency | 3/6 | 1/6 |
| IgA deficiency | 2/7 | 4/6 | |
| High IgM (without IgG and IgA deficiency) | 4/7 | 0/4 | |
| Use of immunoglobulin substitution therapy | 0/6 | 0/0 | |
| Use of antibiotic prophylaxis | 0/6 | 1/1 | |
| Endocrine/metabolic | Low body weight and BMI | 3/5 | 5/5 |
| Hyperthyroidism | 2/5 | 0/1 | |
| (Insulin resistant) diabetes mellitus/elevated glucose or HbA1c levels | 6/7 | 3/4 | |
| Hypercholesterolemia | 4/4 | 0/1 | |
| Cardiovascular | Hypertension/cardiomyopathy | 4/7 | 1/1 |
| Iron deficiency anaemia | 5/7 | 0/1 | |
| Telangiectasia in other organs than eyes/skin | 1/4 | 6/6 | |
| Gastro-intestinal | Gastro-oesophageal reflux | 3/6 | 1/1 |
| Elevated liver function tests | 5/7 | 2/4 | |
| Hepatic steatosis | 3/3 | 1/2 | |
| Enlarged liver | 2/5 | 2/2 | |
| Neurological | Generalized muscle weakness causing tetraparesis/paralysis with anteflexion of head | 7/7 | 8/8 |
| Peripheral neuropathy with atrophy, areflexia, autonomic dysfunction | 5/5 | 8/8 | |
| Severe dysarthria/anarthria | 7/7 | 8/9 | |
| Contractures/deformities | 6/6 | 5/5 | |
| Scoliosis | 1/4 | 4/4 | |
| Oculomotor apraxia | 6/7 | 7/7 | |
| Functional | Immobility (wheelchair) | 7/7 | 8/8 |
| ADL dependency | 7/7 | 4/4 | |
| Urine incontinence | 3/5 | 0/0 | |
| Constipation/haemorrhoids | 4/7 | 0/0 | |
| Fractures/osteoporosis | 3/3 | 0/0 | |
| Pressure sores | 5/6 | 0/0 | |
| Psychosocial | Pain | 2/5 | 0/0 |
| Mood problems | 3/4 | 0/0 | |
| Cognitive problems | 1/5 | 4/7 | |
| Fatigue | 3/5 | 0/0 | |
| Recurrent admissions to hospital | 4/7 | 3/3 | |
| Parents are caretakers | 5/7 | 0/0 | |
| Withdrawal from medical care/wish for treatment limitation | 6/7 | 2/2 |
aFor some patients data were missing (i.e., not known, not noted or not tested for)