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 [disease name] include [complication 1], [complication 2], and [complication 3].

OR

Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately

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%):
- Microcephaly
- low frontal hairline
- Wide-set eyes (hypertelorism)
- Droopy eyelids (ptosis)
- Broad, flat bridge of the nose
- Small, low-set ears
- Small lower jaw (micrognathia)
- Cleft palate
- Cleft lip
- Short, webbed neck
- Smaller and higher shoulder blades than usual
- Malformed or absent thumbs
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]

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
  - Osteoporosis
  - Weight gain
  - Cushingoid appearance
  - Hypertension
  - Diabetes mellitus
  - Growth retardation
  - Pathologic bone fractures
  - Gastric ulcers
  - Cataracts
  - Glaucoma
  - Increased susceptibility to infection
- Stem cell transplantation
  - Graft vs. Host Disease (GVHD)
  - Rejection

↑ 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)
↑ 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.