Primary Hypertrophic Osteoarthropathy With Myelofibrosis
Muhammad Yousaf1, Rubina Khan2, Zaineb Akram3
1Clinical Hematology, Armed Forces Bone Marrow Transplant Center, Rawalpindi, PAK.
Cureus
|November 16, 2022
Summary
Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder. This case highlights a SLCO2A1 gene mutation causing severe anemia in a young patient, emphasizing the need for genetic diagnosis in complex PHO cases.
Area of Science:
- Genetics
- Internal Medicine
- Rare Diseases
Background:
- Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive disorder.
- Characterized by pachydermia, periostosis, and clubbing.
- Caused by mutations in HPGD or SLCO2A1 genes.
Keywords:
autosomal recessive disordermyelofibrosisprimary hyperostotic osteoarthropathyprostaglandin e2slco2a1 geneMore Related Videos
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