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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2012-01-01
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| Series: | Hematology Reports |
| Subjects: | |
| Online Access: | http://www.pagepress.org/journals/index.php/hr/article/view/3408 |
| _version_ | 1828046978308636672 |
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| author | Somanth Maitra Sreejita Bhowmik |
| author_facet | Somanth Maitra Sreejita Bhowmik |
| author_sort | Somanth Maitra |
| collection | DOAJ |
| 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 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. |
| first_indexed | 2024-04-10T18:33:58Z |
| format | Article |
| id | doaj.art-33114cb9eeb142eb92e00326212a6b4a |
| institution | Directory Open Access Journal |
| issn | 2038-8322 2038-8330 |
| language | English |
| last_indexed | 2024-04-10T18:33:58Z |
| publishDate | 2012-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Hematology Reports |
| spelling | doaj.art-33114cb9eeb142eb92e00326212a6b4a2023-02-02T02:03:49ZengMDPI AGHematology Reports2038-83222038-83302012-01-0141e2e210.4081/hr.2012.e21933Benign familial polycythaemia in a young maleSomanth Maitra0Sreejita Bhowmik1Calcutta National Medical College and Hospital, KolkataCalcutta National Medical College and Hospital, KolkataPolycythaemia 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 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.http://www.pagepress.org/journals/index.php/hr/article/view/3408Benign familial poycythaemia, male |
| spellingShingle | Somanth Maitra Sreejita Bhowmik Benign familial polycythaemia in a young male Hematology Reports Benign familial poycythaemia, 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 | Benign familial poycythaemia, male |
| url | http://www.pagepress.org/journals/index.php/hr/article/view/3408 |
| work_keys_str_mv | AT somanthmaitra benignfamilialpolycythaemiainayoungmale AT sreejitabhowmik benignfamilialpolycythaemiainayoungmale |