Disease from the group of myelodysplastic syndromes. Cytogenetically, it is due to a piece loss (deletion) of the long arm (q-arm) of chromosome 5. Hence the name.
On chromosome 5, the PDGFRB gene is flanked by the granulocyte-macrophage colony-stimulating factor and macrophage colony-stimulating factor receptor genes; all three genes may be involved in 5q syndrome.
Clinically, the symptoms are essentially those of myelodysplastic syndromes with signs of pancytopenia:
This constellation results in the clinical symptoms: weakness, fatigue, tendency to infection and possibly bleeding.
The diagnosis of the 5q syndrome is based on the anamnestic findings, the physical examination and the laboratory examination of the blood (blood count, CRP, blood smear) and the bone marrow. The bone marrow shows a reduced fraction of microcytic mononuclear megakaryocytes.
The confirmation of the findings is based on the deletion detection in the chromosome analysis.
Therapy can be supportive or immunomodulatory according to the treatment options for myelodysplastic syndromes (see there).