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Familial hypercholesterolemia (FH) is a worldwide common autosomal inherited condition associated with premature cardiovascular diseases, both in men and in women (World frequency has been recently estimated to be as high as 1:250). Identifying FH cases early in life could represent a cornerstone to prevent fatal events in adult's life. Pediatricians are well positioned to evaluate the familial cardiovascular risk factors among their young patients, to make a diagnosis and to perform familial screening. The goal of this paper is therefore to emphasize the recognition of this genetic condition at a younger age and to initiate both familial screening and a safe treatment. Prevention of cardiovascular disease starts at an early age in all children, but it may save lives in FH patients.

BACKGROUND: Inherited conditions affecting genetic aberration, viral oncogenesis, reduced immune surveillance, and long-lasting antigen stimulation may build the way to lymphomagenesis in humans. METHODS: We extracted from the database of 4 consecutive trials for pediatric non-Hodgkin lymphoma (NHL) all cases with an associated genetic disease. RESULTS: Among 1,430 patients, 34 (2.4%) had an associated inherited condition and a mature B-lineage (n = 28), anaplastic large cell lymphoma (n = 4), or T-lineage (n = 2) NHL. Their median age at the diagnosis was 9.3 years (range, 2.6-17.8 years). In 14 cases (41%) the underlying condition was considered to be a potential cause for undue toxicity if the expected therapy was applied. Thus, treatment modification had been planned in advance. The overall survival was 89% (standard error [SE] 1%), 73% (SE 10%), and 73% (SE 23%) at 3 years for registered patients with no inherited condition associated, with genetic abnormalities and with underlying condition causing an immune deficiency, respectively (P = 0.003). CONCLUSION: In our cohort, patients with NHL with an underlying constitutional condition represent the 2.4% of the cases. In the subset of patients with primary immune deficiency, which may have contributed to lymphomagenesis, allogeneic hematopoietic stem cell transplantation may be required. In the remaining patients, the association with lymphoma remains apparently unexplained and could be not causative. Detailed reporting of such cases may contribute to disclose even rare and fully unexpected association, which may have implications for research in the field of lymphomagenesis. 041b061a72




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