Diamond-Blackfan anemia

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Diamond-Blackfan anemia
ICD-10 D61.0
ICD-9 284.01
OMIM 105650
DiseasesDB 29062
MeSH D029503

Diamond-Blackfan anemia Microchapters

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Patient Information

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Diamond-Blackfan anemia from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Erythrogenesis imperfecta; congenital pure red cell aplasia, hereditary pure red cell aplasia, familial pure red cell aplasia

Overview

Historical Perspective

Pathophysiology

Causes

  • A mutation in the RPS19 gene is the cause of DBA in about 25% of patients.
  • Mutations in RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS24, and RPS26, and rarely in RPL15, RPL17, RPL19, RPL26, RPL27, RPL31, RPS15A, RPS20, RPS27, RPS28, RPS29 have also been found.[1]
  • Mutation in non-RP genes, TSR2, GATA1, and EPO.[1]
  • 20 percent of patients still have no known genetic cause.[1]

Differentiating Diamond-Blackfan anemia from other Diseases

  • Aplastic anemia
  • Fanconi anemia
  • Transient Erythroblastopenia of Childhood
  • Shwachman-Diamond syndrome (SDS)[2]
  • Pearson syndrome
  • Dyskeratosis congenita (DC)[2]
  • Cartilage-hair hypoplasia (CHH)
  • Infections: Parvovirus B19, HIV, Viral hepatitis
  • Drugs and toxins such antileptic drugs, azathioprine
  • Immune-mediated disorders: Thymoma, Myasthenia Gravis, SlE

Epidemiology and Demographics

  • Classical Diamond-Blackfan anemia (DBA) affects about seven per million live births per year. Thus in the United States, with 4 million live births per year, each year approximately 25-35 new patients will be diagnosed.[3]

Risk Factors

Natural History, Complications and Prognosis

Natural history

Classic DBA:

  • The symptomatic onset of Diamond black-fan anemia becomes apparent during the first year of life.
  • Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).
  • Approximately half of DBA cases have physical abnormalities.
  • The severity of Diamond-Blackfan anemia may vary, even within the same family. individuals with "non-classical" Diamond-Blackfan anemia with less severe symptoms have been identified. For example, some affected individuals have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems.

Non-classic DBA:

  • presents with mild or absent anemia with only subtle indications of erythroid abnormalities such as macrocytosis, elevated eADA, and/or elevated HbF concentration
  • Onset later in life
  • Congenital anomalies or short stature consistent with DBA and minimal or no evidence of abnormal


[4]

Complications

  • Common complications of Diamond black-fan include:
  • Physical abnormalities
  • higher-than-average chance of developing myelodysplastic syndrome (MDS), bone cancer (osteosarcoma), colon cancer
  • increased risk of developing a bone marrow cancer such as acute myeloid leukemia (AML)
  • Eye problems such as cataracts, glaucoma, or strabismus
  • kidney abnormalities
  • hypospadias

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

  • The diagnosis is established when all four of the following diagnostic criteria are present:[3][5]
    • Age younger than one year
    • Macrocytic anemia with no other significant cytopenias
    • Reticulocytopenia
    • Normal marrow cellularity with a paucity of erythroid precursors

History

  • Family history of DBA consistent with autosomal dominant inheritance

symptoms

  • Pallor, weakness, irritability, failure to thrive
  • Growth retardation (in about 30% )
  • 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

Treatment

Medical Therapy | Surgery | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

External Links

Template:Hematology


de:Diamond-Blackfan-Syndrom

Template:WikiDoc Sources

  1. 1.0 1.1 1.2 Da Costa L, Narla A, Mohandas N (2018). "An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia". F1000Res. 7. doi:10.12688/f1000research.15542.1. PMC 6117846. PMID 30228860.
  2. 2.0 2.1 Alter BP (November 2017). "Inherited bone marrow failure syndromes: considerations pre- and posttransplant". Blood. 130 (21): 2257–2264. doi:10.1182/blood-2017-05-781799. PMC 5714231. PMID 29167174.
  3. 3.0 3.1 Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM (September 2008). "Diagnosing and treating Diamond Blackfan anemia: results of an international clinical consensus conference". Br. J. Haematol. 142 (6): 859–76. doi:10.1111/j.1365-2141.2008.07269.x. PMC 2654478. PMID 18671700.
  4. 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)
  5. Vlachos A, Muir E (November 2010). "How I treat Diamond-Blackfan anemia". Blood. 116 (19): 3715–23. doi:10.1182/blood-2010-02-251090. PMC 2981532. PMID 20651069.