Table 1.
Genetic, hematologic and biochemical findings in four Serbian patients with chronic hepatosplenomegaly and variants detected in the LIPA gene
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
|---|---|---|---|---|
| LIPA gene variant #1 | c.419G>A (p.Trp140Ter) | c.419G>A (p.Trp140Ter) | c.851C>T (p.Ser284Phe) | c.851C>T (p.Ser284Phe) |
| LIPA gene variant #2 | c.851C>T (p.Ser284Phe) | c.851C>T (p.Ser284Phe) | c.851C>T (p.Ser284Phe) | c.851C>T (p.Ser284Phe) |
| Enzyme activity | 0.14 nmol/punch/hr (normal >0.1) | Not available | 0.32 nmol/punch/h (normal >0.1) | Not performed |
| Total cholesterol (mmol/L) | 3.1 - 4.4 | 4.13 - 4.3 | 2.4 - 5.44 | 3.56 - 5.12 |
| LDL cholesterol (mmol/L) | 2.04 - 2.6 | 2.66 - 2.9 | 1.35 - 4.47 | 2. 44 - 3.9 |
| HDL cholesterol (mmol/L) | 0.14 - 0.42 | 0.13 - 0.14 | 0.23 - 0.73 | 0.07 - 0.51 |
| TG (mmol/L) | 1.34 - 6.6 | 2.94 - 3.18 | 0.61 - 1.63 | 1.7 - 3.22 |
| AST (IU/L) | 61 - 153 | 109 - 128 | 55 - 200 | 60 - 154 |
| ALT (IU/L) | 49 - 98 | 50 - 76 | 40 - 105 | 38 - 102 |
| Hemoglobin (g/L) | 107-126 | 92-115 | 80-118 | 75-127 |
| WBC count | 3.65 - 5.7 | 5.4 -5.8 | 2.66 - 14.4 | 2.6 - 8.54 |
| Platelet count | 57.7 -203 | 14 - 204 | 73 - 399 | 66 - 406 |
| ACE (IU/L) | 120 - 223 | ND | ND | ND |
| Chitotriosidase (nmol/ml/hr) | 2106 - 8083 | ND | 10805 | ND |
| Oxysterols (mcmol/L) | 0.597 (normal < 0.05) | ND | ND | ND |
LDL – low density lipoprotein, HDL – high density lipoprotein, TG – triglycerides, WBC – white blood cells, ACE – angiotensin converting enzyme