Response to androgen therapy in patients with dyskeratosis congenita.

Br J Haematol 2014 May 12;165(3):349-57. Epub 2014 Feb 12.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA; Children's National Medical Center, Washington, DC, USA.

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome and telomere biology disorder characterized by dysplastic nails, reticular skin pigmentation and oral leucoplakia. Androgens are a standard therapeutic option for bone marrow failure in those patients with DC who are unable to undergo haematopoietic stem cell transplantation, but there are no systematic data on its use in those patients. We evaluated haematological response and side effects of androgen therapy in 16 patients with DC in our observational cohort study. Untreated DC patients served as controls. Seventy percent of treated DC patients had a haematological response with red blood cell and/or platelet transfusion independence. The expected age-related decline in telomere length was noted in androgen-treated patients. All treated DC patients had at least one significant lipid abnormality. Additional treatment-related findings included a significant decrease in thyroid binding globulin, accelerated growth in pre-pubertal children and splenic peliosis in two patients. Liver enzymes were elevated in both androgen-treated and untreated patients, suggesting underlying liver involvement in DC. This study suggests that androgen therapy can be effectively used to treat bone marrow failure in DC, but that side effects need to be closely monitored.

Download full-text PDF

Source
http://doi.wiley.com/10.1111/bjh.12748
Publisher Site
http://dx.doi.org/10.1111/bjh.12748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984599PMC
May 2014
23 Reads

Publication Analysis

Top Keywords

bone marrow
12
androgen therapy
12
marrow failure
12
patients
10
dyskeratosis congenita
8
side effects
8
untreated patients
8
treated patients
8
therapy patients
8
haematological response
8
patients liver
4
study untreated
4
patients served
4
seventy percent
4
peliosis patients
4
response red
4
patients haematological
4
percent treated
4
controls seventy
4
cohort study
4

References

(Supplied by CrossRef)
Oxymetholone therapy in aplastic anemia
Allen et al.
Blood 1968

Alter et al.
1993
Malignancies and survival patterns in the national cancer institute inherited bone marrow failure syndromes cohort study
Alter et al.
British Journal of Haematology 2010

Similar Publications