Cargando…

Benign familial polycythaemia in a young male

Polycythaemia has been reported rarely as a familial condition. There is evidence to suggest transmission as a Mendelian dominant trait, but recessive inheritance has also been described. We present here a case of benign familial polycythaemia in a 25-year-old male with similar presentation in his f...

Descripción completa

Detalles Bibliográficos
Autores principales: Somnath, Maitra, Sreejita, Bhowmik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3343451/
https://www.ncbi.nlm.nih.gov/pubmed/22567216
http://dx.doi.org/10.4081/hr.2012.e2
_version_ 1782231827315949568
author Somnath, Maitra
Sreejita, Bhowmik
author_facet Somnath, Maitra
Sreejita, Bhowmik
author_sort Somnath, Maitra
collection PubMed
description Polycythaemia has been reported rarely as a familial condition. There is evidence to suggest transmission as a Mendelian dominant trait, but recessive inheritance has also been described. We present here a case of benign familial polycythaemia in a 25-year-old male with similar presentation in his family members. Our patient presented with reddish discolouration of the eyes, early satiety , weight loss and itching at intervals, for four years. An additional examination revealed red beefy tongue and Grade III clubbing. The importance of presenting this case lies in the fact that the prognosis appears to be good in these patients, but regular observation is necessary as Kiladjian and colleagues have mentioned that there is a risk of leukaemia, thrombosis and myelofibrosis in these patients later on, as the idiopathic erythrocytosis group contains a certain number of polycythaemia patients.
format Online
Article
Text
id pubmed-3343451
institution National Center for Biotechnology Information
language English
publishDate 2012
publisher PAGEPress Publications
record_format MEDLINE/PubMed
spelling pubmed-33434512012-05-07 Benign familial polycythaemia in a young male Somnath, Maitra Sreejita, Bhowmik Hematol Rep Case Report Polycythaemia has been reported rarely as a familial condition. There is evidence to suggest transmission as a Mendelian dominant trait, but recessive inheritance has also been described. We present here a case of benign familial polycythaemia in a 25-year-old male with similar presentation in his family members. Our patient presented with reddish discolouration of the eyes, early satiety , weight loss and itching at intervals, for four years. An additional examination revealed red beefy tongue and Grade III clubbing. The importance of presenting this case lies in the fact that the prognosis appears to be good in these patients, but regular observation is necessary as Kiladjian and colleagues have mentioned that there is a risk of leukaemia, thrombosis and myelofibrosis in these patients later on, as the idiopathic erythrocytosis group contains a certain number of polycythaemia patients. PAGEPress Publications 2012-01-10 /pmc/articles/PMC3343451/ /pubmed/22567216 http://dx.doi.org/10.4081/hr.2012.e2 Text en ©Copyright M. Somnath and B. Sreejita, 2012 This work is licensed under a Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0). Licensee PAGEPress, Italy
spellingShingle Case Report
Somnath, Maitra
Sreejita, Bhowmik
Benign familial polycythaemia in a young male
title Benign familial polycythaemia in a young male
title_full Benign familial polycythaemia in a young male
title_fullStr Benign familial polycythaemia in a young male
title_full_unstemmed Benign familial polycythaemia in a young male
title_short Benign familial polycythaemia in a young male
title_sort benign familial polycythaemia in a young male
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3343451/
https://www.ncbi.nlm.nih.gov/pubmed/22567216
http://dx.doi.org/10.4081/hr.2012.e2
work_keys_str_mv AT somnathmaitra benignfamilialpolycythaemiainayoungmale
AT sreejitabhowmik benignfamilialpolycythaemiainayoungmale