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Inherited bone marrow failure syndromes

Síndromes de la fallada medul·lar congènita a Vall d'Hebron

These syndromes are a group of diseases characterised by insufficient blood cell production (anaemia, neutropenia and thrombocytopenia), constitutional malformations and the risk of cancer.


They are usually diagnosed in childhood but there some cases diagnosed in adults. Specifically, these syndromes are:  Fanconi anaemia, dyskeratosis congenita or selectively severe congenital neutropenia, Diamond-Blackfan anaemia, Diamond-Shwachman syndrome, and amegakaryocytic thrombocytopenia.  


What are inherited bone marrow failure syndromes?


Malformations caused by inherited bone marrow failure syndromes affect the skin, bones, heart and digestive system as well as the urinary system, the central nervous system,  and others. They may also affect the area around the bone marrow.


Besides this, they also increase the predisposition to cancers such as acute myeloid leukaemia, myelodysplastic syndrome and squamous carcinoma of the head, neck and reproductive organs.


These syndromes have important biological pathways in common related to cell growth and division such as the activation of the p53 gene that is responsible for halting the cell cycle, cell ageing and cell death. In addition, mutations have been identified in more than 80 genes.


Although this is treated in childhood, once the patient reaches adulthood monitoring is very important. Early diagnosis of these syndromes is essential to ensure the patient receives appropriate treatment. The aim is to minimise toxicity at the same time as allowing genetic counselling, and implementing strategies for cancer prevention and monitoring. This  treatment should focus on treating the bone marrow failure, but also any constitutional malformations and extra-haematological manifestations, in addition to cancer treatment.


A multidisciplinary team of specialists with extensive experience of these diseases is necessary to ensure optimum patient care.




The first symptoms are related to a lack of blood cell production:

  • anaemia: which results in a pale complexion, tiredness and low mood.
  • neutropenia: which can give rise to fever and infections.
  • thrombocytopenia: resulting in bleeding in the skin in the form of haematoma and petechiae, or occasionally bleeding of the mucous membranes or internal organs.


There are also signs related to malformations such as:

  • small stature
  • marks on the skin
  • bone deformities in the hands and arms


Who is affected by inherited bone marrow failure syndromes?


Estimated incidence rates of the different syndromes are:

  • Fanconi anaemia 1 case for every 160,000-200,000 births per year
  • Severe congenital neutropenia: 1 case for every 250,000 births per year
  • Diamond-Shwachman syndrome 1 case for every 250,000 births per year
  • Diamond-Blackfan anaemia: 1 case for every 160,000-200,000 births per year
  • There is no data available for dyskeratosis congenita amegakaryocytic thrombocytopenia.




The usual tests to detect inherited bone marrow failure are:

  • Haemogram
  • Bone marrow aspiration
  • Bone marrow biopsy
  • Chromosome fragility test
  • Genetic testing
  • Molecular diagnostics


Typical treatment


The following methods are used to treat these pathologies:

  • Stem cell transplant
  • Blood transfusions
  • Androgens
  • Cancer treatment
  • Oncological surgery
  • Orthopaedic surgery




To prevent these diseases it is important to avoid smoking, alcohol, sun exposure, and to have a balanced diet. In addition, a cancer prevention programme should be followed with regular visits to the Cancer Prevention Unit and the Ear, Nose and Throat, Maxillofacial and Gynaecology departments.  

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