TABLE 2.
General, hematologic, and endocrine comorbid conditions and complications in the Pyruvate Kinase deficiency Natural History Study population
|
Regularly transfused cohort, n/N (%) (n = 65) |
Occasionally transfused cohort, n/N (%) (n = 30) |
Never transfused cohort, n/N (%) (n = 27) |
All patients with PK deficiency, n/N (%) (n = 122) |
P value | |||
|---|---|---|---|---|---|---|---|
| Regularly transfused vs occasionally transfused cohorts | Occasionally transfused vs never transfused cohorts | Regularly transfused vs never transfused cohorts | |||||
| Chronic diseases | |||||||
| Arrhythmia | 5/62 (8.1) | 5/28 (17.9) | 1 (3.7) | 11/117 (9.4) | .275 | .193 | .663 |
| Congestive heart failure | 2/62 (3.2) | 1/28 (3.6) | 0 (0) | 3/117 (2.6) | >.999 | >.999 | >.999 |
| Pulmonary hypertension | 3/55 (5.5) | 1/26 (3.8) | 1 (3.7) | 5/108 (4.6) | >.999 | >.999 | >.999 |
| Osteoporosis | 11/52 (21.2) | 2/23 (8.7) | 2/21 (9.5) | 15/96 (15.6) | .321 | >.999 | .323 |
| Liver cirrhosis | 3/57 (5.3) | 3/27 (11.1) | 0/24 (0) | 6/108 (5.6) | .381 | .238 | .551 |
| Hematological conditions | |||||||
| Bone enlargement/bony expansion | 8/60 (13.3) | 1/24 (4.2) | 0/25 (0) | 9/109 (8.3) | .435 | .490 | .098 |
| Extramedullary hematopoiesis | 11/49 (22.4) | 1/21 (4.8) | 2/22 (9.1) | 14/92 (15.2) | .092 | >.999 | .319 |
| Liver iron overload | 54 (83.1) | 15 (50.0) | 7 (25.9) | 76 (62.3) | .001 | .102 | <.001 |
| Cardiac iron overload | 2/34 (5.9) | 0/4 (0.0) | 0/3 (0.0) | 2/41 (4.9) | >.999 | NC | >.999 |
| History of thrombosis | 13 (20.0) | 3 (10.0) | 0/25 (0) | 16/120 (13.3) | .376 | .242 | .016 |
| Deep vein thrombosis | 7 (10.8) | 2 (6.7) | 0/25 (0) | 9/120 (7.5) | .715 | .495 | .184 |
| Pulmonary embolism | 5 (7.7) | 1 (3.3) | 0/25 (0) | 6/120 (5.0) | .661 | .317 | >.999 |
| Stroke | 1 (1.5) | 1 (3.3) | 0/25 (0) | 2/120 (1.7) | .534 | >.999 | >.999 |
| Other | 3 (4.6) | 1 (3.3) | 0/25 (0) | 4/120 (3.3) | >.999 | >.999 | .557 |
| Central venous line | 2 (3.1) | 1 (3.3) | 0/25 (0) | 3/120 (2.5) | >.999 | >.999 | >.999 |
| Presplenectomy thrombosis | 1 (1.5) | 0 (0) | 0/25 (0) | 1/120 (0.8) | >.999 | >.999 | >.999 |
| Postsplenectomy thrombosis | 11 (16.9) | 3 (10.0) | 0/25 (0) | 14/120 (11.7) | .537 | .242 | .031 |
| Postsplenectomy thrombosis a | 11/65 (16.9) | 3/20 (15.0) | 0/6 (0) | 14/91 (15.4) | >.999 | >.999 | .580 |
| Endocrine conditions | |||||||
| Growth hormone deficiency | 2/59 (3.4) | 1/27 (3.7) | 0/23 (0) | 3/109 (2.8) | >.999 | >.999 | >.999 |
| Hypoparathyroidism | 3/59 (5.1) | 0/21 (0) | 0/23 (0) | 3/103 (2.9) | .563 | NC | .556 |
| Thyroid disease | 6/63 (9.5) | 2/27 (7.4) | 2/24 (8.3) | 10/114 (8.8) | >.999 | >.999 | >.999 |
| Hypothyroidism | 5/63 (7.9) | 1/27 (3.7) | 1/24 (4.2) | 7/114 (6.1) | NC | NC | NC |
| Hyperthyroidism | 0/63 (0) | 0/27 (0) | 1/24 (4.2) | 1/114 (0.9) | NC | NC | NC |
| Unknown | 1/63 (1.6) | 1/27 (3.7) | 0/24 (0) | 2/114 (1.8) | NC | NC | NC |
| Other conditions/events | |||||||
| Splenectomy | 65 (100.0) | 20 (66.7) | 6 (22.2) | 91 (74.6) | <.001 | .001 | <.001 |
| Cholecystectomy | 46 (70.8) | 19 (63.3) | 8 (29.6) | 73 (59.8) | .485 | .017 | <.001 |
| Gallstones | 47/63 (74.6) | 20/28 (71.4) | 13 (48.1) | 80/118 (67.8) | .799 | .102 | .027 |
| Leg ulcers | 3/58 (5.2) | 1/27 (3.7) | 0/23 (0) | 4/108 (3.7) | >.999 | >.999 | .554 |
| Aplastic crises | 13/59 (22.0) | 8/27 (29.6) | 0 (0) | 21/113 (18.6) | .589 | .004 | .007 |
| Bone fracture | 20/61 (32.8) | 6/24 (25.0) | 6/23 (26.1) | 32/108 (29.6) | .604 | >.999 | .608 |
| Sepsis | 3 (4.6) | 1/29 (3.4) | 1/26 (3.8) | 5/120 (4.2) | >.999 | >.999 | >.999 |
Denominators are only specified when data for the full cohort are not available.
Note:Liver iron overload is defined as patients meeting any of the following criteria: (a) Ever received chelation therapy, (b) Ever been prescribed phlebotomy for iron removal, (c) had ferritin > 1000 ng/mL in the 12 mo prior to enrollment, (d) biopsy liver iron concentration > 3 mg Fe/g DW, (e) T2 magnetic resonance imaging liver iron concentration > 3 mg Fe/g DW, or (f) Ferriscan liver iron concentration > 3 mg Fe/g DW. Cardiac iron overload is defined as T2 ≤ 20 ms.
Abbreviations: DW, dry weight; NC, not calculated; PK, pyruvate kinase.
Limited denominator to patients who had a splenectomy. All comparisons are based on a two‐tailed Fisher's exact test.