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Genetic Whispers in Hyperphosphataemic: Tumor Calcinosis in a 30-year-old
Insights
Hyperphosphataemic Familial Tumoral Calcification (HFTC) is a rare genetic disorder. Genetic testing confirmed HFTC in a patient with joint pain and high phosphate levels, highlighting its importance in diagnosing tumoral calcinosis.
Area of Science:
- Genetics
- Rheumatology
- Endocrinology
Background:
- Hyperphosphataemic Familial Tumoral Calcification (HFTC) is a rare genetic disorder characterized by ectopic calcification.
- Patients often present with joint pain and soft tissue calcifications, mimicking other rheumatological conditions.
Purpose of the Study:
- To present a case of HFTC.
- To highlight the diagnostic utility of genetic testing in patients with tumoral calcinosis and hyperphosphatemia.
Main Methods:
- Clinical presentation and examination.
- Laboratory analysis including serum phosphate and HLA-B27.
- Radiological imaging (X-rays).
- Histological examination of tissue biopsy.
- Genetic testing for GALNT3 gene mutations.
Main Results:
- A 30-year-old male presented with joint pain, elbow swelling, and soft tissue calcifications.
- Histology revealed calcium phosphate crystals; genetic testing confirmed homozygous GALNT3 mutation.
- Elevated Fibroblast growth factor 23 (FGF-23) levels were noted.
Conclusions:
- HFTC should be considered in patients with tumoral calcinosis and unexplained hyperphosphatemia.
- Genetic testing is crucial for confirming the diagnosis of HFTC.
- Early diagnosis and management, including dietary modifications and phosphate binders, are important.
Presentation:
We present a case of Hyperphosphataemic Familial Tumoral Calcification (HFTC). A 30-year-old Indian male patient presented to our Rheumatology clinic complaining of joint pains involving his left elbow, right hip, and ankle. Examination was normal apart from a tender left elbow with firm swelling on the extensor surface and Positive Faber's test at his right hip. Laboratory analysis showed negative HLA-B27, normal routine parameters except for raised phosphate level. X-rays showed soft tissue calcifications at left elbow and right hip with faint calcifications around right knee and ankle. Dermatomyositis and Heterotopic Calcification Screen were negative.
Diagnosis:
Elbow swelling showed Calcium Phosphate crystals on histology. He was diagnosed with HFTC on the basis of positive genetic testing for homozygous GALNT3. His Fibroblast growth factor 23 (FGF-23) levels remained elevated.
Treatment:
He received dietary modifications with phosphate binders and referred to Endocrinology.
Discussion:
HFTC is a rare condition to consider in patients presenting with features of tumoral calcinosis who also have unexplained hyperphosphataemia. It can be confirmed by genetic testing.
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