BackgroundThe risk of coronary heart disease (CHD) is related to environmental factors and genetic variants. Apolipoprotein E (apoE) polymorphisms are heritable determinants of total and low-density lipoprotein cholesterol, with some authors suggesting an association between the ε4 allele and CHD. We investigated the relationship between apoE genotype and age at referral to a specialized lipid clinic by the primary care physician and whether the benefits of treatment with statin differed between genotypes.MethodsWe assessed individual apoE genotypes and lipid blood profile in a total of 463 patients followed at a specialized lipid clinic due to dyslipidemia, with a 3-year median follow-up time. The primary care physician at the time of the referral had no access to the apoE genotyping results. Carriers of apoE ε4/ε2 genotype were excluded.ResultsThe frequencies of ε2, ε3 and ε4 alleles were 7.8, 78.9 and 13.3%, respectively. There were no significant differences between genders. Although with similar lipid profiles and antidyslipidemic drug usage at baseline, ε4-carriers were referred to the clinic at a younger age (44.2 ± 14.7 years) compared with non-ε4 carriers (50.6 ± 13.8 years) (p < 0.001), with a substantially younger age of referral for homozygous E4/4 and for all genotypes with at least one copy of the ε4 allele (p < 0.001 for trend). Although both ε4 and non-ε4 carriers achieved significant reductions in total cholesterol during follow-up (p < 0.001 vs. baseline), the mean relative decrease in total cholesterol levels was higher in non-ε4 carriers (-19.9 ± 2.3%) compared with ε4 carriers (-11.8 ± 2.3%), p = 0.003.ConclusionOur findings support the concept that there is a reduced response to anti-dyslipidemic treatment in ε4 carriers; this can be a contributing factor for the earlier referral of these patients to our specialized lipid clinic and reinforces the usefulness of apoE genotyping in predicting patients response to lipid lowering therapies.

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Patients with lymphoproliferative diseases are at an increased risk of an incomplete immune response following vaccination or SARS‐CoV‐2 infection and might develop persistent viral infection and severe COVID‐19 disease. We present a case of successful treatment of persistent and mechanical‐ventilation‐requiring SARS‐CoV‐2 infection in a del17 + CLL patient using exogenous antibodies.

Osteogenesis imperfecta (OI) is a rare inherited disorder with a broad spectrum of clinical and genetic variability. The genetic diversity involves, in the majority of the cases, mutations in one of the genes that encodes the type 1 collagen protein (COL1 A1 and COL1 A2), but it is not a requirement for the diagnosis. The most benign form is OI type I. The authors present a case report of a 25-year-old woman who had severe low back pain associated with incapacity to walk and breast-feed post-partum. Symptoms developed 2 weeks after delivery. The radiological examination revealed severe osteoporosis with no abnormalities in the laboratory findings. The clinical signs and a positive personal and family history of multiple fractures in childhood suggested OI type I, although other diagnosis, such as pregnancy-associated osteoporosis, was also considered. The atypical presentation of this rare disorder in adulthood calls attention to the need for early diagnosis for prompt treatment. Treatment of OI is never curative, but it improves the quality of the patient’s life.

Wunderlich syndrome is a rare and possibly life-threatening haemorrhagic syndrome presenting as spontaneous nontraumatic renal rupture with subcapsular and perinephric haemorrhage. Apixaban, a direct oral anticoagulant recommended in patients with atrial fibrillation, has previously been associated with atraumatic solid organ rupture but, to date, no case of apixaban-related Wunderlich syndrome has been reported. We report a rare case of Wunderlich syndrome associated with apixaban while addressing the difficulties face by clinicians when managing anticoagulation in bleeding patients.

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Although septic embolization associated with infective endocarditis is relatively frequent, mycotic cerebral aneurysms are a rare and potentially fatal complication. The authors report the case of a woman admitted with a cerebral haemorrhage due to mycotic aneurysm rupture, which led to a subacute infective endocarditis diagnosis. The patient underwent craniotomy with aneurysm excision and mitral valvuloplasty due to severe valvular insufficiency, with a favorable clinical outcome. The authors make a brief review, highlighting the challenge of the management of these patients, especially at surgical approach, which requires an individualized therapy strategy based on patient evolution.