Genetic Whispers in Hyperphosphataemic: Tumor Calcinosis in a 30-year-old

Abstract

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.