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Table 3 Clinical Event Categories in Patients With Classical Homocystinuria, by Highest Total Homocysteine Level

From: High clinical burden of classical homocystinuria in the United States: a retrospective analysis

 

By highest tHcy level

  
 

Overall cohort

Overall with tHcy level

 < 50 µM

50 to < 100 µM

 ≥ 100 µM

No tHcy level

p valuesc,d

Total

633

601

278

212

111

32

 

Thrombotic/thromboembolic

 ≥ 1 condition, No. (%)

203 (32.1)

186 (30.9)

62 (22.3)

85 (40.1)

39 (35.1)

17 (53.1)

 < 0.001

Event rate per 10,000 person-yearsa (rate, SE)

12,593, 280

12,604, 288

7,021, 319

21,903, 643

9,002, 549

12,399, 1,182

 

Skeletal

 ≥ 1 condition, No. (%)

107 (16.9)

100 (16.6)

41 (14.7)

38 (17.9)

21 (18.9)

7 (21.9)

0.50

Event rate per 10,000 person- yearsa (rate, SE)

2,803, 132

2,789, 136

2,157, 177

3,808, 268

2,443, 286

3,044, 586

 

Ocular

 ≥ 1 condition, No. (%)

70 (11.1)

63 (10.5)

27 (9.7)

24 (11.3)

12 (10.8)

7 (21.9)

0.82

Event rate per 10,000 person- yearsa (rate, SE)

1,666, 102

1,566, 102

1,737, 159

999, 137

2,175, 270

3,382, 617

 

Neurological

 ≥ 1 condition, No. (%)

56 (8.8)

50 (8.3)

16 (5.8)

20 (9.4)

14 (12.6)

6 (18.8)

0.06

Event rate per 10,000 person- yearsa (rate, SE)

2,592, 127

2,526, 129

2,215, 179

1,828, 186

4,484, 387

3,720, 648

 

Mortality

Died, No. (%)

34 (5.4)

34 (5.7)

7 (2.5)

16 (7.5)

11 (9.9)

0 (0.0)

0.004

Death rate per 10,000 person- yearsa (rate, SE)

211, 36

224, 38

101, 38

302, 75

368, 111

0, 0

 

Event combinations, No. (%)

Patients with any thrombotic/thromboembolic, skeletal, ocular, neurological event

319 (50.4)

297 (49.4)

114 (41.0)

121 (57.1)

62 (55.9)

22 (68.8)

 < 0.001

 Patients with multiple eventsb

95 (15.0)

85 (14.1)

27 (9.7)

37 (17.5)

21 (18.9)

10 (31.3)

0.012

 Patients with any event

429 (67.8)

404 (67.2)

173 (62.2)

154 (72.6)

77 (69.4)

25 (78.1)

0.045

 Patients with multiple eventsb

218 (34.4)

200 (33.3)

70 (25.2)

86 (40.6)

44 (39.6)

18 (56.3)

 < 0.001

  1. ED Emergency department, SE Standard error, tHcy Total homocysteine
  2. aDefined as the number of condition-related ED or outpatient visits, or inpatient admissions with a primary diagnosis per 10,000 person-years during follow-up
  3. bPatients with multiple events were defined as those with at least 2 different types of listed events
  4. cComparison was assessed using linear regression with a generalized estimating equation and the Jonckheere-Terpstra test for continuous outcomes (means and medians, respectively), and Fisher’s exact test for categorical variables if a cell has a 0 value or frequency is ≤ 5, or Chi-square test
  5. dThe no tHcy level subgroup was not included in the statistical test comparison
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172