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"Farnaza Ariffin"

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"Farnaza Ariffin"

Case Reports
Polycythaemia Vera JAK 2 Mutation in a Patient with Underlying Chronic Obstructive Pulmonary Disease at a Primary Care Setting
Rafidah Mahmud, Farnaza Ariffin, Punithavathy Shanmuganathan
Korean J Fam Med 2020;41(4):263-266.   Published online June 9, 2020
DOI: https://doi.org/10.4082/kjfm.18.0161
The presence of erythrocytosis along with the diagnosis of chronic obstructive pulmonary disease (COPD) may veer a primary care clinician in a busy clinic towards attributing the erythrocytosis to hypoxia secondary to COPD; however, this is not always the case. This case highlights the importance of investigation and the significance not excluding a primary cause in COPD patients with erythrocytosis. A 57-year-old male, presenting with chronic cough, was subsequently diagnosed with COPD clinically and confirmed by spirometry. Erythrocytosis was also incidentally noted. The patient did not have any symptoms of polycythemia or hepatosplenomegaly. Therefore, the erythrocytosis was initially thought to be caused by hypoxia secondary to COPD. However, the JAK2 V617F gene mutation was detected and hence the diagnosis of polycythemia vera was made. Although the erythrocytosis was initially attributed secondary to the underlying pulmonary disease, investigations proved it to be primary in origin. This case report highlights the importance of investigating the underlying cause and to confirm the diagnosis of erythrocytosis as primary and secondary polycythemia differ in their management approach. This will avoid inappropriate diagnosis, treatment, and undesirable outcomes.

Citations

Citations to this article as recorded by  
  • Secondary polycythemia and venous thromboembolism: a systematic review
    Amelia Panjwani, Venkata Sathya Burle, Rhea Raj, Sneha Thomas, Vasavi Gorantla
    F1000Research.2023; 12: 758.     CrossRef
  • Screening for latent polycythemia vera in chronic obstructive pulmonary disease-associated erythrocytosis
    Stephen E. Langabeer
    Respiratory Medicine and Research.2022; 81: 100914.     CrossRef
  • 6,468 View
  • 73 Download
  • 2 Web of Science
  • 2 Crossref
Avascular Necrosis of the Hip in Primary Care
Nurul Nadia Baharum, Farnaza Ariffin, Mohammad Hanafiah, Shahrul Hisham Sulaiman
Korean J Fam Med 2021;42(1):84-87.   Published online May 25, 2020
DOI: https://doi.org/10.4082/kjfm.19.0021
Avascular necrosis, or osteonecrosis of the femoral head, is a debilitating condition which leads to the destruction of the hip joint due to an interruption in the blood supply to the bony region and is most commonly due to trauma. The case discussed here has been highlighted as it presented as non-traumatic osteonecrosis of the femoral head with an absence of risk factors in a healthy adult male. A 37-year-old male presented with a 4-month history of recurrent left hip pain, which worsened with initiation of movement and weightbearing on the affected side. The patient was overweight but normotensive with a full range of movement of the hips bilaterally. There were no abnormalities detected on initial X-ray images of the left hip. However, due to the persistent pain and sclerotic changes in a subsequent X-ray, a magnetic resonance image of the bilateral hips was obtained, leading to the diagnosis of osteonecrosis of the bilateral femoral heads. Due to the lack of improvement with physiotherapy and analgesia, the patient was subjected to conservative surgery of the symptomatic left hip with concurring evidence of avascular necrosis based on intraoperative anatomical biopsy. This case emphasizes the importance of identifying underlying issues during history taking and physical examination in adults without risk factors. The early diagnosis of osteonecrosis assists in preventing joint collapse and can delay the requirement of joint replacements. High levels of suspicion are necessary to instigate investigation in persistent cases without the presence of risk factors.
  • 6,803 View
  • 224 Download
  • 1 Web of Science
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