RESUMEN
Hyperphosphatemia familial tumoral calcinosis (HFTC) and hyperphosphatemia hyperostosis syndrome (HHS) are rare autosomal recessive disorders caused by mutations in the polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3), fibroblast growth factor 23 (FGF23), or klotho (KL) genes. They are characterized by hyperphosphatemia and recurrent episodes of bone lesions with hyperostosis and/or soft tissue calcinosis. Management options include phosphate-lowering therapies, anti-inflammatory medications, and surgical excision of the calcified masses in significantly disabled cases. We describe three cases from a consanguineous family who were found to have the same genetic mutation caused by a homozygous mutation in intron eight of GALNT3 c.1524+1 G>A (IVS8+1). The first case had a presentation similar to chronic osteomyelitis, while the second one presented with a calcified mass in her gluteal area. The third case presented with left leg pain. Being a rare disease, the findings of tumoral calcinosis/ bony abnormalities, along with elevated phosphate levels, should raise the possibility of this entity. Family history and biochemical findings can help reach the diagnosis.
RESUMEN
Objectives: Post-COVID-19 vaccine-associated vasculitis stands as one of the most serious side effects attributed to COVID-19 vaccines. This complication encompasses diverse manifestations which vary in presentation and severity. Moreover, it can impact patients across all age groups, with a notably elevated incidence in the elderly. This systematic review seeks to review and evaluate the spectrum of vasculitis manifestations linked to COVID-19 vaccination. Methods: A systematic review of the literature was done by searching through PubMed, Google Scholar, and Scopus up to October 2022. Articles including data about sex, age at diagnosis, vasculitis clinical manifestations, type of vaccination, most commonly used investigations, comorbid medical conditions, treatments, and clinical outcomes were included in the final analysis. Furthermore, vasculitis flare-ups post-vaccination were considered part of this review. Results: A total number of 117 studies describing 158 patients developing vasculitis following COVID-19 vaccination were included in the final analysis. Among the patients who developed vasculitis, the most administered type of vaccination was the mRNA vaccine subtype (n = 103), followed by the viral vector vaccines (n = 42) and inactivated viral vaccines (n = 10). On the other hand, about 38% of vasculitis-related symptoms occurred after the administration of the first dose of the vaccine and 37% occurred after taking the second dose. The skin (60.7%) and the kidneys (27.8%) were the most affected organs and complete remission was achieved in 111 patients (70%), while partial remission occurred in 11% of the patient population. Conclusion: COVID-19 vaccine-induced vasculitis is a rare occurrence associated with COVID-19 vaccines. It generally presents a favorable prognosis and outcomes for the vast majority of patients, ultimately leading to full remission within days. This review emphasizes the notion that the advantages of COVID-19 vaccines outweigh the potential risks, particularly for individuals with compromised immune systems.