Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesis
Factor VII (FVII) deficiency is a rare but significant inherited autosomal recessive coagulation disorder, occurring with a frequency of 1 in 300,000-500,000 people. The disorder is characterised by a wide range of bleeding symptoms that do not always correlate with plasma FVII levels, from asymptom...
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2024-12-01
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| Series: | Pediatria Polska |
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| Online Access: | https://www.termedia.pl/Late-diagnosed-factor-VII-deficiency-a-rare-but-significant-haemorrhagic-diathesis,127,55422,1,1.html |
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| author | Karolina Małgorzata Różycka Beata Kuczyńska Kinga Podsiadło Małgorzata Mitura-Lesiuk Irena Woźnica- Karczmarz |
| author_facet | Karolina Małgorzata Różycka Beata Kuczyńska Kinga Podsiadło Małgorzata Mitura-Lesiuk Irena Woźnica- Karczmarz |
| author_sort | Karolina Małgorzata Różycka |
| collection | DOAJ |
| description | Factor VII (FVII) deficiency is a rare but significant inherited autosomal recessive coagulation disorder, occurring with a frequency of 1 in 300,000-500,000 people. The disorder is characterised by a wide range of bleeding symptoms that do not always correlate with plasma FVII levels, from asymptomatic conditions to severe haemorrhages.
We present the case of a 2-year-old boy who was admitted to hospital for prolonged nosebleeds. Laboratory tests showed significant coagulation abnormalities: prolonged prothrombin time and international normalised ratio, directing suspicion to a rare coagulation disorder. Further diagnostics at a specialised centre confirmed congenital factor VII deficiency. The boy was observed to have repeated episodes of nosebleeds, and haematoma formation in the area of the knees, elbows, and fingers, even with minor trauma.
Factor VII deficiency is a rare coagulation disorder, so each described case is important to better understand the clinical spectrum and therapeutic options. |
| format | Article |
| id | doaj-art-d2b4e3d2708c4779bf6578657815c782 |
| institution | Kabale University |
| issn | 0031-3939 2300-8660 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Pediatria Polska |
| spelling | doaj-art-d2b4e3d2708c4779bf6578657815c7822025-01-27T10:39:50ZengTermedia Publishing HousePediatria Polska0031-39392300-86602024-12-0199435235510.5114/polp.2024.14641555422Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesisKarolina Małgorzata RóżyckaBeata KuczyńskaKinga PodsiadłoMałgorzata Mitura-LesiukIrena Woźnica- KarczmarzFactor VII (FVII) deficiency is a rare but significant inherited autosomal recessive coagulation disorder, occurring with a frequency of 1 in 300,000-500,000 people. The disorder is characterised by a wide range of bleeding symptoms that do not always correlate with plasma FVII levels, from asymptomatic conditions to severe haemorrhages. We present the case of a 2-year-old boy who was admitted to hospital for prolonged nosebleeds. Laboratory tests showed significant coagulation abnormalities: prolonged prothrombin time and international normalised ratio, directing suspicion to a rare coagulation disorder. Further diagnostics at a specialised centre confirmed congenital factor VII deficiency. The boy was observed to have repeated episodes of nosebleeds, and haematoma formation in the area of the knees, elbows, and fingers, even with minor trauma. Factor VII deficiency is a rare coagulation disorder, so each described case is important to better understand the clinical spectrum and therapeutic options.https://www.termedia.pl/Late-diagnosed-factor-VII-deficiency-a-rare-but-significant-haemorrhagic-diathesis,127,55422,1,1.htmlfactor vii deficiency fvii laboratory assay rare bleeding disorders |
| spellingShingle | Karolina Małgorzata Różycka Beata Kuczyńska Kinga Podsiadło Małgorzata Mitura-Lesiuk Irena Woźnica- Karczmarz Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesis Pediatria Polska factor vii deficiency fvii laboratory assay rare bleeding disorders |
| title | Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesis |
| title_full | Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesis |
| title_fullStr | Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesis |
| title_full_unstemmed | Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesis |
| title_short | Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesis |
| title_sort | late diagnosed factor vii deficiency a rare but significant haemorrhagic diathesis |
| topic | factor vii deficiency fvii laboratory assay rare bleeding disorders |
| url | https://www.termedia.pl/Late-diagnosed-factor-VII-deficiency-a-rare-but-significant-haemorrhagic-diathesis,127,55422,1,1.html |
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