beenmergfalen

Beenmergfalen is a term used to describe disorders in which the bone marrow fails to produce adequate amounts of blood cells. It can be acquired or inherited and may present as a reduction in red cells, white cells, and platelets (pancytopenia) or as selective deficits in one blood cell lineage.

Common forms include acquired aplastic anemia, in which the marrow becomes hypocellular and unable to generate sufficient blood cells, and inherited bone marrow failure syndromes such as Fanconi anemia, Diamond-Blackfan anemia, dyskeratosis congenita, and Shwachman-Diamond syndrome. Causes can include exposure to drugs or toxins, radiation, certain viral infections, autoimmune processes, and genetic defects that impair marrow function.

Symptoms reflect the consequences of cytopenias and may include fatigue and weakness from anemia, increased susceptibility to infections due to low white cells, and easy bruising or bleeding from low platelets. Diagnosis typically relies on complete blood counts showing cytopenias, a low reticulocyte count, and confirmation with a bone marrow biopsy. Genetic testing and targeted investigations help distinguish inherited forms from acquired ones and guide treatment.

Treatment is tailored to the cause and may involve supportive care such as red blood cell transfusions or antibiotics for infections, growth factors to stimulate blood cell production, immunosuppressive therapy for certain cases, and hematopoietic stem cell transplantation when appropriate. Prognosis varies widely depending on the underlying disorder and access to curative options.

Etymology: the name combines Dutch roots with meaning related to bone marrow failure. See also bone marrow failure syndromes and related disorders.