Challenging differential diagnosis, Rare disease
Marta Turek, Joanna Stępniewska, Jacek Różański
Department of Nephrology, Transplantology and Internal Medicine, Pomeranian Medical University, Szczecin, Poland
Am J Case Rep 2021; 22:e930026
Available online: 2021-05-06
Calciphylaxis is a rare and lifethreatening syndrome characterized by small vascular calcifications, which lead to the occlusion of blood vessels and painful skin lesions with tissue necrosis. Although the disease can develop in a population without kidney failure, it is typically detected in patients receiving dialysis, with an increasing frequency ranging from 1% to 4%. Therefore, the disease is also known as calcific uremic arteriolopathy. The prognosis in patients with coexisting chronic kidney disease is very poor, with a 1-year mortality rate of up to 80%. Numerous risk factors for calciphylaxis have been described, such as obesity, diabetes mellitus, female sex, White race, overuse of calcium and vitamin D supplements, and vitamin K deficiency. The disease is often accompanied by disorders such as hyperphosphatemia, elevated parathyroid hormone level, and a deficiency of natural calcification inhibitors, such as fetuin-A and matrix Gla protein. However, not all patients with calciphylaxis have the abnormalities described above, suggesting that the pathogenesis of calciphylaxis is multifactorial and unfortunately still uncertain.
CASE REPORT: We report a case of calciphylaxis in a 52-year-old White woman with multiple comorbidities and on chronic hemodialysis treatment, who presented with severe subcutaneous painful nodules and necrotic ulcers on both legs.
CONCLUSIONS: Although the prognosis of this rare and underrecognized disease is poor, an early diagnosis and interdisciplinary treatment including pain relief, wound care, appropriate nutritional support, correction of mineral parameters, administration of sodium thiosulphate, and adequate hemodialysis therapy can improve patient quality of life.
Keywords: calciphylaxis, Renal Dialysis, renal insufficiency