Diamond-Blackfan anemia natural history, complications and prognosis

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Overview

If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].

OR

  • Common complications of DBA include physical abnormalities, Cancer predisposition, eye problems such as cataracts, glaucoma, or strabismus, kidney abnormalities, hypospadias and secondary complications due to standard therapies( Corticosteroids treatment, Red cell transfusion, Bone marrow transplantation):



  • Prognosis is relatively good, Overall actuarial survival is 75% at age 40 years

Diamond-Blackfan anemia natural history, complications and prognosis

Natural history The severity of Diamond-Blackfan anemia may vary, even within the same family.

  • Classic DBA:
    • Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).
    • The symptomatic onset of Diamond black-fan anemia becomes apparent during the first year of life
  • Approximately half of DBA cases have Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(observed in ~30%-50%):
  • All diagnostic criteria are met.
  • Non-classic DBA:
    • presents with mild or absent anemia with only subtle indications of erythroid abnormalities such as macrocytosis, elevated ADA, and/or elevated HbF concentration
    • Have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems.
    • Minimal or no evidence of congenital anomalies or short stature[1]

Complications:

  • Common complications of Diamond black-fan include:
  • Physical abnormalities
  • higher-than-average chance of developing myelodysplastic syndrome (MDS), acute myeloid leukemia (AML) bone cancer (osteosarcoma), colon cancer[2]
  • Eye problems such as cataracts, glaucoma, or strabismus
  • kidney abnormalities
  • hypospadias
  • Secondary complications due to standard therapies( Corticosteroids treatment, Red cell transfusion, Bone marroe transplantation):
    • Transfusion iron overload
      • Cirrhosis or fibrosis of the liver
      • Cardiac arrythmias
      • Diabetes
      • Reproductive organ failure
      • Growth stunting
      • Endocrine failure affecting the thyroid and adrenal
    • Side effects of corticosteroids
    • Stem cell transplantation
      • Graft vs. Host Disease (GVHD)
      • Rejection

Prognosis

  • Prognosis is relatively good,Overall actuarial survival is 75% at age 40 years, but complications related to treatment may alter the quality of life of the affected individuals. Severe complications as a result of treatment or the development of cancer may reduce life expectancy. [3]
  • Hematopoietic stem cell transplant (HSCT) is the sole curative option, but carries significant morbidity and is generally restricted to those with a matched related donor.[4]
  • Ultimately, 40% of case subjects remain dependent upon corticosteroids which increase the risk of heart disease, osteoporosis, and severe infections. [5]
  • Another 40% become dependent upon red cell transfusions which require regular chelation to prevent iron overload and increases the risk of alloimmunization and transfusion reactions, and can cause severe co-morbidities.[6]

References

  1. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Clinton C, Gazda HT. PMID 20301769. Vancouver style error: initials (help); Missing or empty |title= (help)
  2. Luft F (January 2010). "The rise of a ribosomopathy and increased cancer risk". J. Mol. Med. 88 (1): 1–3. doi:10.1007/s00109-009-0570-0. PMID 20012593.
  3. Gadhiya K, Budh DP. PMID 31424886. Missing or empty |title= (help)
  4. Roy V, Pérez WS, Eapen M, Marsh JC, Pasquini M, Pasquini R, Mustafa MM, Bredeson CN (August 2005). "Bone marrow transplantation for diamond-blackfan anemia". Biol. Blood Marrow Transplant. 11 (8): 600–8. doi:10.1016/j.bbmt.2005.05.005. PMID 16041310.
  5. Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I (December 2010). "The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update". Hum. Mutat. 31 (12): 1269–79. doi:10.1002/humu.21383. PMC 4485435. PMID 20960466.
  6. Horos R, von Lindern M (December 2012). "Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia". Br. J. Haematol. 159 (5): 514–27. doi:10.1111/bjh.12058. PMID 23016900.