Clinical presentation of a cohort of 259 histologically-proven Erdheim–Chester disease patients
| Age distribution of the specific presentation | ||||||
|---|---|---|---|---|---|---|
| Patients presenting with specific manifestation | Age at onset for specific manifestation | Diagnostic delay for specific manifestation | Number of pts (% of specific age group) | |||
| Presenting manifestation | Number of pts (% of total) | Median (range) (years) | Median (range) (years) | Age <40 (n=49) | Age 40–70 (n=184) | Age >70 (n=26) |
| Skeletal Lower limbs (16 pts); knee (11 pts); back pain (7 pts); chest (2 pts); elbow (1 pt); shoulder (1 pt); ankle (1 pt); skull (1 pt), humerus (1 pt); other—non-specified (31 pts) | 66 (26%) | 46.5 (4–87) | 0 (0–22) | 14 (29%) | 44 (24%) | 8 (31%) |
| Neurological Exophthalmos (28 pts); visual disturbances (9 pts); ataxia (7 pts); radiculopathy (7 pts); seizure (5 pts); dysarthria (2 pts); headache (1 pt); other (3 pts) | 57 (23%) | 48 (4–76) | 2.5 (0–18) | 17 (35%) | 37 (20%) | 3 (12%) |
| Diabetes insipidus | 56 (22%) | 41 (4–74) | 5 (0–34) | 14 (29%) | 37 (20%) | 5 (19%) |
| Constitutional Fever (17 pts); weight loss (17 pts); fatigue (12 pts); night sweats (1 pt); other—non-specified (16 pts) | 49 (20%) | 14 (7–71) | 1 (0–11) | 7 (14%) | 37 (20%) | 5 (19%) |
| Retroperitoneal Renal failure (10 pts); nephrovascular hypertension (10 pts); hydronephrosis (4 pts); back pain (2 pts); other—non-specified (10 pts) | 34 (14%) | 52 (45–70) | 1 (0–20) | 0 (0%) | 33 (18%) | 1 (4%) |
| Pulmonary Dyspnoea (23 pts); cough (5 pts); chest discomfort (2 pts); asymptomatic interstitial lung disease (1 pt); pneumothorax (1 pt); pleural effusion (1 pt) | 30 (12%) | 58.5 (31–71) | 0 (0–14) | 3 (6%) | 23 (13%) | 4 (15%) |
| Cutaneous Xanthoma (11 pts); xanthelasma (7 pts); skin lesions (9 pts) | 27 (11%) | 45 (21–70) | 0 (0–18) | 4 (8%) | 22 (12%) | 1 (4%) |
| Cardiovascular Pericardial effusion (12 pts); coated aorta (2); restrictive cardiomyopathy (1 pt); valvulopathy (1 pt); superior vena cava syndrome (1 pt) | 15 (6%) | 59 (47–77) | 0 (0–16) | 0 (0%) | 12 (7%) | 3 (12%) |
| Palpable mass Knee (5 pts); breast (3 pts); axilla (2 pts) | 13 (5%) | 50 (26–78) | 0 (0–5) | 3 (6%) | 8 (4%) | 2 (8%) |
| Other pituitary Hypogonadism (5 pts); panhypopituitarism (2 pts) | 7 (3%) | 45 (7–58) | 0 (0–11) | 2 (4%) | 5 (3%) | 0 (0%) |
| Incidental | 3 (1%) | 57 (55–67) | 2 (0–11) | 0 (0%) | 2 (1%) | 1 (4%) |
The sum of the percentages in each column may exceed 100% since some patients presented with multiple signs and symptoms simultaneously.