Progressive Thrombocytopenia in a child with Wilson’s disease
Sheryl Chettiar1, Suhani Jain2, Vishrutha Poojari1, Shivangi Tetarbe2, Ira Shah1
1Department of Gastroenterology and Department of Hepatology, B J Wadia Hospital for Children, Mumbai, India, 2Department of Gastroenterology and Department of Hepatology, BJ Wadia Hospital for Children, Mumbai, India
Address for Correspondence: Sheryl Vincent Chettiar, Vasant Galaxy, Mars-C-Wing, Flat No: 402, Bangur Nagar, Goregaon (W), Mumbai.
Email: sherylchettiar12@gmail.com
Keywords: Wilson’s Disease, Penicillamine, Thrombocytopenia
Clinical Problem :
An 8-year 7-month-old female suffering from Wilson’s disease since February 2025 presented in June 2025 with fever and abdominal distention for 4 days, diarrhea for 2 days, lethargy and decreased urine output for 1 day. She was on Penicillamine (20 mg/kg/day) since February 2025. She had a urinary tract infection with urine culture positive for Enterococcus faecalis in April 2025 for which she had been hospitalised and given IV antibiotics (details of treatment not available). Her immunizations were up to date. On examination in June 2025, weight was 25 kg (25th percentile , according to Indian Academy of Pediatrics (IAP) and height was 121 cms (10th percentile, IAP). She was afebrile, with heart rate 88/min, respiratory rate 24/min, blood pressure 112/64 mm Hg. Abdominal examination revealed hepatosplenomegaly with ascites. Systemic examination was normal. Laboratory investigations are as shown in Table 1. Ultrasound (USG) abdomen showed a cirrhotic liver, splenomegaly with multiple splenic collaterals, moderate ascites, and collapsed, edematous bowel loops. Ascitic tap was done under random donor platelet (RDP) transfusion with 330 mL of fluid drained. Ascitic fluid analysis revealed protein: 0.5 g/dL, sugar: 163 mg/dL, red blood cells (RBCs): 1000 cells/mm³, white blood cells (WBCs) 3072 cells/mm³ with 73% neutrophils. She was started on IV cefotaxime. The following day, she had altered sensorium, and sodium benzoate, rifaximin, and Lactulose were added. She also received 1 unit of Fresh Frozen Plasma (FFP). Oral Penicillamine (20 mg/kg/day) and zinc (75 mg/day) were continued. Due to re-accumulation of ascites, a repeat paracentesis was performed on hospital day 4, draining 1350 mL of ascitic fluid. Analysis showed: protein: 0.4 g/dL, sugar: 106 mg/dL, WBCs: 151 cells/mm³ with 39% neutrophils and no RBCs, She was given intravenous Albumin at 1 g/kg for volume replacement. In view of portal hypertension, Carvedilol was initiated. She was given IV Cefotaxime for 14 days and then discharged.
Table 1. Laboratory investigations.
| |
Feb 2025 |
April 2025 |
Day 1 of hospitalisation in June 2025 |
Day 2 of Hospitalisation (in PICU) |
Day 4 of Hospitalisation |
Day 9 of hospitalisation |
Day 11 of Hospitalisation |
Day 13 of Hospitalisation |
Day 15 of Hospitalisation |
| Hemoglobin (g/dl) |
6.9 |
9.6 |
8.4 |
8.8 |
|
9.2 |
9.0 |
8.9 |
8.6 |
| White cell count (cells/cumm) |
3960 |
4210 |
8660 |
1470 |
|
2980 |
3090 |
2890 |
2290 |
| Neutrophil (%) |
65.8 |
61.4 |
76.3 |
68 |
|
41.5 |
55.3 |
39.6 |
41 |
| Lymphocyte (%) |
27.3 |
33.9 |
16.7 |
25 |
|
46.25 |
35.8 |
48.4 |
46 |
| Platelet count (cells/cumm) |
64000 |
58000 |
46000 |
64000 |
|
63000 |
62000 |
58000 |
48000 |
| Reticulocyte count (%) |
1.9 |
|
|
|
|
|
|
|
|
| Sodium (mmol/L) |
135 |
131 |
132 |
135 |
134 |
138 |
135 |
134 |
137 |
| Potassium (mmol/L) |
3.8 |
2.9 |
3.8 |
3.7 |
4.6 |
4.7 |
4.2 |
5.2 |
4.6 |
| BUN/Creatinine |
9/0.41 |
7/0.22 |
31/0.97 |
25/0.51 |
-/0.32 |
|
|
-/0.3 |
|
| PT/INR |
25.7/2.34 |
28.½.48 |
25.3/2.15 |
|
19.5/1.65 |
22.6/1.91 |
19.8/1.66 |
20.9/1.75 |
16.4/1.36 |
| Bilirubin(Total) (mg/dl) |
4.5 |
4.2 |
2.3 |
|
|
|
|
2.5 |
|
| Bilirubin (Direct) (mg/dl) |
3.9 |
3.6 |
1.7 |
|
|
|
|
0.9 |
|
| Serum glutamic oxaloacetic transaminase (SGOT) (U/L) |
200 |
134 |
87 |
|
|
105 |
|
101 |
|
| Serum glutamic pyruvic transaminase (SGPT)(U/L) |
75 |
48 |
59 |
|
|
56 |
|
51 |
|
| Serum gamma glutamyl transferase (GGT)(U/L) |
68 |
|
56 |
|
|
|
|
54 |
|
| Serum alkaline phosphatase (ALP) (U/L) |
397 |
457 |
4.5 |
|
|
449 |
|
458 |
|
| Total Protein (gm/dl) |
6.2 |
6.1 |
5.2 |
|
|
6 |
|
3.4 |
|
| Serum albumin (gm/dl) |
2.6 |
2.1 |
1.8 |
|
1.9 |
3.1 |
|
2.7 |
|
| Ammonia |
86 |
|
168 |
85 |
|
|
144 |
147 |
|
| C Reactive Protein |
18.7 |
20 |
73 |
|
24.5 |
|
5.2 |
4.1 |
|
|
How to determine whether worsening cytopenia in a child on penicillamine is due to the drug or due to worsening portal hypertension and hypersplenism?
Discussion :
An 8-year 7-month-old female suffering from Wilson’s disease since February 2025 presented in June 2025 with fever and abdominal distention for 4 days, diarrhea for 2 days, lethargy and decreased urine output for 1 day. She was on Penicillamine (20 mg/kg/day) since February 2025. She had a urinary tract infection with urine culture positive for Enterococcus faecalis in April 2025 for which she had been hospitalised and given IV antibiotics (details of treatment not available). Her immunizations were up to date. On examination in June 2025, weight was 25 kg (25th percentile , according to Indian Academy of Pediatrics (IAP) and height was 121 cms (10th percentile, IAP). She was afebrile, with heart rate 88/min, respiratory rate 24/min, blood pressure 112/64 mm Hg. Abdominal examination revealed hepatosplenomegaly with ascites. Systemic examination was normal. Laboratory investigations are as shown in Table 1. Ultrasound (USG) abdomen showed a cirrhotic liver, splenomegaly with multiple splenic collaterals, moderate ascites, and collapsed, edematous bowel loops. Ascitic tap was done under random donor platelet (RDP) transfusion with 330 mL of fluid drained. Ascitic fluid analysis revealed protein: 0.5 g/dL, sugar: 163 mg/dL, red blood cells (RBCs): 1000 cells/mm³, white blood cells (WBCs) 3072 cells/mm³ with 73% neutrophils. She was started on IV cefotaxime. The following day, she had altered sensorium, and sodium benzoate, rifaximin, and Lactulose were added. She also received 1 unit of Fresh Frozen Plasma (FFP). Oral Penicillamine (20 mg/kg/day) and zinc (75 mg/day) were continued. Due to re-accumulation of ascites, a repeat paracentesis was performed on hospital day 4, draining 1350 mL of ascitic fluid. Analysis showed: protein: 0.4 g/dL, sugar: 106 mg/dL, WBCs: 151 cells/mm³ with 39% neutrophils and no RBCs, She was given intravenous Albumin at 1 g/kg for volume replacement. In view of portal hypertension, Carvedilol was initiated. She was given IV Cefotaxime for 14 days and then discharged. | References : | - Peng AJ, Chen L, Li Y, Fang JJ, Zhou D, Feng P. Penicillamine for Wilson's disease. Cochrane Database Syst Rev. 2017 Sep 1;2017(9):CD009739.
- European Association for the Study of the Liver. EASL-ERN Clinical Practice Guidelines on Wilson's disease. J Hepatol. 2025 Feb 22:S0168-8278(24)02706-5. doi: 10.1016/j.jhep.2024.11.007. Epub ahead of print.
- Thomas D, Gallus AS, Brooks PM, Tampi R, Geddes R, Hill W. Thrombokinetics in patients with rheumatoid arthritis treated with D-penicillamine. Ann Rheum Dis. 1984 Jun;43(3):402-406.
- Mitchell O, Feldman DM, Diakow M, Sigal SH. The pathophysiology of thrombocytopenia in chronic liver disease. Hepat Med. 2016 Apr 15;8:39-50.
- Kamlin COF, M Jenkins T, L Heise J, S Amin N. Trientine Tetrahydrochloride, From Bench to Bedside: A Narrative Review. Drugs. 2024 Dec;84(12):1509-1518.
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| Correct Answers : |  0% |
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