Latest Post

The Top Ingredients to Look For in Menopausal Skin-Care Probiotics: Solving Poor Digestive Health How to Do Double Leg Lift in Pilates? Tips, Technique, Correct Form, Benefits and Common Mistakes Top 5 Emerging Skincare Markets in 2022: Brazil, China, India, Mexico and South Africa – Market Summary, Competitive Analysis and Forecast to 2025 – ResearchAndMarkets.com Kelvin Harrison Jr. Is Growing with the Flow

A 44-year-old man presented to the gastroenterology department with a 1-month history of heartburn. Physical examination revealed clubbing of the fingers and toes (Figure A, B), abnormal thickening of the palms and feet, and swelling of the knee and ankle joints (Figure B). Onset of these noted physical signs occurred from a very young age, and they were aggravated progressively and plateaued in adulthood. Laboratory studies showed no abnormalities. Upper gastrointestinal endoscopy showed a grossly enlarged appearance of the major and minor papilla without other abnormalities (Figure C). Biopsies were performed and confirmed this to be tubular adenoma. Colonoscopy revealed a 1.5-cm pedunculated polyp in the sigmoid colon that was histologically confirmed to be tubulovillous adenoma with high-grade dysplasia (Figure D). Small-bowel capsule endoscopy showed no abnormalities. All adenomatous lesions were completely resected endoscopically, with negative margins. A diagnosis of hypertrophic osteoarthropathy was suspected based on abnormal physical findings. Furthermore, a series of examinations was performed to make a definite diagnosis and clarify the etiology. Plain radiographs of the hands and knees demonstrated bilateral symmetrical periosteal reaction (Figures E, F). Echocardiography revealed a patent foramen ovale (2 mm). Findings from chest computed tomography and arterial blood gas analysis were normal. Considering that the patient had no known secondary etiology for hypertrophic osteoarthropathy, a diagnosis of primary hypertrophic osteoarthropathy (PHO) was suspected. The subsequent enzyme-linked immunosorbent assay analyzes revealed that the concentration of serum prostaglandin E2 (PGE2) was 69.29 pg/mL (reference range, 28.7-308.2 pg/mL) and the concentration of urinary PGE2 was 585.1 ng/mmol Cr (reference range , 36.4-85.5 ng/mmol Cr). heterozygous HPGD mutation of c.1A>G (ENST00000296522: p.Met1Val, the start codon was mutated from ATG to GTG) was identified by whole genome sequencing. The patient was ultimately diagnosed as having PHO. Follow-up esophagogastroduodenoscopy at 3 and 6 months showed no abnormalities, but endoscopy at 9 months revealed a recurrent lesion at the ampullary region. Targeted biopsy confirmed low-grade intraepithelial neoplasia, with no evidence of adenoma. Follow-up colonoscopy at 9 months showed no abnormalities. Considering that the disturbed PGE2 catabolism may result in the manifestations, the patient was started on celecoxib therapy (200mg qd) with plans for repeated esophagogastroduodenoscopy 3 months later and colonoscopy 1 year later.

figuresPhysical examination revealed clubbing of the fingers (A) and toes (B) and swelling of the ankle joints (B). C, Endoscopy showed gross enlargement of the major and minor duodenal papilla. D, Colonoscopy revealed a 1.5-cm pedunculated polyp in the sigmoid colon. Plain radiographs of the hands (E) and knees (F) demonstrated bilateral symmetrical periosteal reaction (arrows).

An inherited disease that is characterized by digital clubbing, periostosis, and pachydermia, PHO is caused by abnormalities in PGE2 metabolism.

1

  • Wang Q
  • Li YH
  • Lin GL
  • et al.
Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature.