Contributions
Type: Publication Only
Background
Gaucher disease is a genetic disorder, autosomal recessive, due to the lack of an enzyme in the metabolic pathway of phospholipids. The deficiency of glucocerebrosidase leads to accumulation of glucocerebroside in macrophages in the spleen, liver, bone marrow, bone, and other tissues/organs.
Its manifestations are still highly subject to different penetrance.
Aims
We know in Gaucher patients there is major incidence of neoplastic diseases and of Parkinson's disease.
Methods
We describe an Italian family, composed of 5 brothers, where we can observe all described complications.
Results
In this family only one member is healthy.
The first brother, suffering from Gaucher (diagnosis 58 years old), never treated, at the age of 64 years developed acute lymphoblastic leukemia with a rearranged karyotype, was treated with supportive care and he died of infection after a few months in 2004.
The sister, born in 1941, received diagnosis in 2004 with her brothers.She was already affected of a neurological form of juvenile-onset Parkinson's disease. Treated for about 2 years with enzyme replacement therapy, she manifested improvement in haematological parameters but simoultaneously she showed a rapid deterioration of psychophysical performance.
Brother n° 3 (b. 1949) received the diagnosis of Gaucher disease in 2004. He was treated with enzyme, in 2011 he developed acute myeloid leukemia, and he died in 2012 after chemotherapy.
The last brother, born 1952, is currently in treatment without complications, with stable disease.
Summary
The history of this family confirms the data of higher incidence of neoplasms and Parkinson’s disease reported in the literature.
It confirms, also, the reduced expectance of life of Gaucher patients.
Keyword(s): Gaucher disease, Hematological malignancy
Type: Publication Only
Background
Gaucher disease is a genetic disorder, autosomal recessive, due to the lack of an enzyme in the metabolic pathway of phospholipids. The deficiency of glucocerebrosidase leads to accumulation of glucocerebroside in macrophages in the spleen, liver, bone marrow, bone, and other tissues/organs.
Its manifestations are still highly subject to different penetrance.
Aims
We know in Gaucher patients there is major incidence of neoplastic diseases and of Parkinson's disease.
Methods
We describe an Italian family, composed of 5 brothers, where we can observe all described complications.
Results
In this family only one member is healthy.
The first brother, suffering from Gaucher (diagnosis 58 years old), never treated, at the age of 64 years developed acute lymphoblastic leukemia with a rearranged karyotype, was treated with supportive care and he died of infection after a few months in 2004.
The sister, born in 1941, received diagnosis in 2004 with her brothers.She was already affected of a neurological form of juvenile-onset Parkinson's disease. Treated for about 2 years with enzyme replacement therapy, she manifested improvement in haematological parameters but simoultaneously she showed a rapid deterioration of psychophysical performance.
Brother n° 3 (b. 1949) received the diagnosis of Gaucher disease in 2004. He was treated with enzyme, in 2011 he developed acute myeloid leukemia, and he died in 2012 after chemotherapy.
The last brother, born 1952, is currently in treatment without complications, with stable disease.
Summary
The history of this family confirms the data of higher incidence of neoplasms and Parkinson’s disease reported in the literature.
It confirms, also, the reduced expectance of life of Gaucher patients.
Keyword(s): Gaucher disease, Hematological malignancy