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THE HEMATOLOGIC FINDINGS OF INHERITED METABOLIC DISEASE; THEY ARE MORE THAN EXPECTED
Author(s):
Idil Yenicesu
,
Idil Yenicesu
Affiliations:
Pediatric Hematology,Gazi University, Faculty of Medicine,Ankara,Turkey
Ahmet Ertan Sal
,
Ahmet Ertan Sal
Affiliations:
Gazi University, Faculty of Medicine,Ankara,Turkey
Ilyas Okur
,
Ilyas Okur
Affiliations:
Gazi University, Faculty of Medicine,Ankara,Turkey
Zuhre Kaya
,
Zuhre Kaya
Affiliations:
Pediatric Hematology,Gazi University, Faculty of Medicine,Ankara,Turkey
Fatih Suheyl Ezgu
,
Fatih Suheyl Ezgu
Affiliations:
Gazi University, Faculty of Medicine,Ankara,Turkey
Ulker Kocak
,
Ulker Kocak
Affiliations:
Pediatric Hematology,Gazi University, Faculty of Medicine,Ankara,Turkey
Leyla Tumer
Leyla Tumer
Affiliations:
Gazi University, Faculty of Medicine,Ankara,Turkey
(Abstract release date: 05/18/17) EHA Library. Yenicesu I. 05/18/17; 182801; PB2087
Idil Yenicesu
Idil Yenicesu
Contributions
PDF Abstract
Abstract

Abstract: PB2087

Type: Publication Only

Background
Inherited metabolic diseases are pathological conditions that generally develop as a result of impairment of the production or breakdown of protein, carbohydrate and fatty acids.

Hematological problems are some of the most frequently observed findings of inherited metabolic diseases. These may be seen together with other systemic findings or sometimes as the first and only diagnostic finding of disease. Early determination of hematological findings has a positive effect on the prognosis of metabolic diseases.

Aims
The aim of this study is to evaluate the incidence of hematological findings in inherited metabolic diseases since there are a few studies about the true incidence in literature.

Methods
Three hundred eighteen patients who were being followed-up within the previous 6 months at Gazi University Department of Pediatric Nutrition and Metabolism, Turkey, were included in the study. Patients’ hematological findings were taken from Department of Pediatric Nutrition and Metabolism and hospital data-processing records.

Since patients were in different age groups, hematological findings were compared with normal values for each patient’s age group . The hematological findings were classified under seven main groups; anemia of chronic disease, iron deficiency anemia, vitamin B12 deficiency anemia, hemophagocytosis, leukocytosis and thrombocytosis. Metabolic diseases were classified according to the textbook of Inborn Metabolic Diseases: Diagnosis and Treatment.

Results

Nine hundred twenty-two hematological examinations of the 318 patients were included to the study, and 282 hematological findings were determined, 127 anemia of chronic disease, 80 iron deficiency anemia, 56 cytopenia and four vitamin B12 deficiency anemia. Leukocytosis (n=1), thrombocytosis (n=5) and hemophagocytosis (n=9) were also observed.

Conclusion

It was determined that although anemia of chronic disease and nutritional anemia are the most common hematological findings, these may be diagnosed late, while neutropenia, thrombocytopenia, pancytopenia and hemostasis disorders may be diagnosed earlier. Metabolic diseases must be considered in the evaluation of cytopenias, particularly in cases with an atypical cause that are resistant to treatment and have additional accompanying findings.
Our study is the most comprehensive one in the literature, and we think it would positively contribute to the monitoring and prognosis of congenital metabolic diseases.

Session topic: 31. Other Non-malignant hematopoietic disorders

Keyword(s): Thrombocytosis, neutropenia, Anemia

Abstract: PB2087

Type: Publication Only

Background
Inherited metabolic diseases are pathological conditions that generally develop as a result of impairment of the production or breakdown of protein, carbohydrate and fatty acids.

Hematological problems are some of the most frequently observed findings of inherited metabolic diseases. These may be seen together with other systemic findings or sometimes as the first and only diagnostic finding of disease. Early determination of hematological findings has a positive effect on the prognosis of metabolic diseases.

Aims
The aim of this study is to evaluate the incidence of hematological findings in inherited metabolic diseases since there are a few studies about the true incidence in literature.

Methods
Three hundred eighteen patients who were being followed-up within the previous 6 months at Gazi University Department of Pediatric Nutrition and Metabolism, Turkey, were included in the study. Patients’ hematological findings were taken from Department of Pediatric Nutrition and Metabolism and hospital data-processing records.

Since patients were in different age groups, hematological findings were compared with normal values for each patient’s age group . The hematological findings were classified under seven main groups; anemia of chronic disease, iron deficiency anemia, vitamin B12 deficiency anemia, hemophagocytosis, leukocytosis and thrombocytosis. Metabolic diseases were classified according to the textbook of Inborn Metabolic Diseases: Diagnosis and Treatment.

Results

Nine hundred twenty-two hematological examinations of the 318 patients were included to the study, and 282 hematological findings were determined, 127 anemia of chronic disease, 80 iron deficiency anemia, 56 cytopenia and four vitamin B12 deficiency anemia. Leukocytosis (n=1), thrombocytosis (n=5) and hemophagocytosis (n=9) were also observed.

Conclusion

It was determined that although anemia of chronic disease and nutritional anemia are the most common hematological findings, these may be diagnosed late, while neutropenia, thrombocytopenia, pancytopenia and hemostasis disorders may be diagnosed earlier. Metabolic diseases must be considered in the evaluation of cytopenias, particularly in cases with an atypical cause that are resistant to treatment and have additional accompanying findings.
Our study is the most comprehensive one in the literature, and we think it would positively contribute to the monitoring and prognosis of congenital metabolic diseases.

Session topic: 31. Other Non-malignant hematopoietic disorders

Keyword(s): Thrombocytosis, neutropenia, Anemia

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