From the Guidelines
Diamond-Blackfan anemia (DBA) patients should undergo colonoscopy starting at 20 years of age, in addition to hematologic surveillance, due to the increased risk of malignancy, particularly osteosarcoma and colon cancer, with a cumulative incidence of 13.7% by the age of 45 years. DBA is a rare congenital bone marrow failure disorder characterized by a failure of the bone marrow to produce red blood cells, typically presenting in infancy or early childhood with symptoms of anemia, including pallor, fatigue, and poor growth 1. The condition is caused by mutations in genes that encode ribosomal proteins, with the most common being related to small or large ribosomal proteins. Treatment for DBA primarily involves corticosteroid therapy, which is effective in about 80% of patients. For those who respond, the dose is gradually tapered to the lowest effective maintenance dose. Patients who don't respond to steroids require chronic red blood cell transfusions, typically every 3-5 weeks, with iron chelation therapy to prevent iron overload. Some key points to consider in the management of DBA include:
- The use of hematopoietic stem cell transplantation as the only curative option, but it carries significant risks and is usually reserved for transfusion-dependent patients with a matched donor.
- The importance of regular monitoring by a hematologist to manage the condition and its complications, including the increased risk of developing certain cancers.
- The need for surveillance for malignancy, particularly osteosarcoma and colon cancer, with a cumulative incidence of 13.7% by the age of 45 years, as reported in recent studies 1. Given the increased risk of malignancy, regular surveillance, including colonoscopy starting at 20 years of age, is essential for early detection and management of potential cancers in DBA patients.
From the Research
Definition and Treatment of Diamond Blackfan Anemia
- Diamond Blackfan anemia is a rare congenital hypoproliferative anemia of infancy and early childhood 2.
- The cornerstones of treatment remain corticosteroids, chronic red blood cell transfusions, and hematopoietic stem cell transplantation, each of which is fraught with complications 3.
Treatment Options
- Corticosteroids are commonly used to treat Diamond Blackfan anemia, but with limited success 2.
- Cyclosporin-A (CSA) therapy can be effective in steroid-resistant patients, with a significant positive association between CSA dose and response 2.
- Hematopoietic stem cell transplantation (HSCT) is the only definitive curative treatment for the hematological phenotype of Diamond Blackfan anemia 4.
Recommendations and Guidelines
- A set of recommendations on the use of HSCT in Diamond Blackfan anemia has been drawn up to guide clinical decision-making and practice 4.
- New consensus recommendations have been developed, including lowering the prednisone maintenance dose, raising the pre-transfusion haemoglobin, and broadening indications for haematopoietic stem-cell transplantation 5.
- Systematic clinical surveillance, including early colorectal cancer screening, is recommended 5.