Irish medical journal · 2026
Genetic Whispers in Hyperphosphataemic: Tumor Calcinosis in a 30-year-old.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Kiran S, Mullan R, Cunningham P, Chavrimootoo S
Аннотация
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.
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.