Diagnosis of familial hypercholesterolemia index patients and their family members

Olivier Descamps 1, Fabian Demeure ², Caroline Wallemacq3, Ann Mertens 4, Ann Verhaegen 5, Johan De Sutter 6, Michel Langlois 7, Ernst Rietzschel 8. Published in the journal : December 2021 Category : Actualités thérapeutiques

Familial hypercholesterolemia is a common, yet often underdiagnosed, genetic disease. Nevertheless, this condition is easily manageable provided that the disease is detected early enough and appropriately treated. Our article presents some diagnostic tools for this condition. In a first patient of an as yet unexplored family, referred to as the index patient, we propose to use the DLCN (Dutch Lipid Clinic Network) score, which should be followed by genetic analysis, depending on the case. Once the diagnosis has been confirmed in this index patient, the disease can easily be identified in other first-degree relatives based on a reference table that has presented in this article. This table provides the threshold values of LDL cholesterol concentrations, according to age and gender, at which the existence of familial hypercholesterolemia in a first-degree relative should be suspected. To this article, we have attached a sample letter that can be addressed to family members, designed to alert them on this disease and facilitate the work-up of their general practitioners.

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Menstrual toxic shock syndrome in a young lady

Diane Elate-Lea1, Florence Dive2, Frédéric Feye3 Published in the journal : December 2021 Category : Emergency

A 20-year-old female patient without comorbidities was admitted to the emergency department in a state of shock. Initially, a diagnosis of septic shock of urinary origin was established. The patient presented with abdominal pain associated with leukocyturia, along with a recent history of untreated cystitis. Admitted to the intensive care unit, the patient reported that she had kept a vaginal tampon for menstruation for over 24 hours during the day preceding her admission to the emergency department, following which the diagnosis of menstrual toxic shock syndrome (mTSS) was made. Antibiotic therapy with intravenous flucloxacillin and clindamycin was initiated.

This case presentation seeks to illustrate the different steps that led to this rare diagnosis, the relevance of a thorough history, as well as the treatment options.

What is already known about the topic?

This condition is a rare, yet possibly fatal disease, affecting women of childbearing age.

What does this article bring up for us?

This article provides a recent literature review, in addition to recalling diagnostic criteria, risk factors, management protocols, and treatment options, as well.

Key Words

Menstrual toxic shock syndrome, Staphylococcus aureus, toxic shock syndrome toxin 1, tampon, menstruation

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Spitzoid lesions – Reminders and novelties in dermoscopy and anatomopathology

Nina Nielens, MD.1, Pascal Van Eeckhout, MD.2, Pauline Richez, MD.3, Liliane Marot, MD.1-2 Published in the journal : December 2021 Category : Peause dermatologique

Spitzoid lesions represent a dermoscopic and anatomopathological challenge. While the spitzoid phenotype is easily recognizable, the differential diagnosis between Spitz nevus, atypical Spitz tumor, and spitzoid melanoma is difficult, requiring the integration of clinical, dermoscopic, histological, and molecular biological criteria.

Three main dermoscopic patterns define the Spitz nevus without asserting its benignity: the starburst pattern, the globular pattern and the vascular pattern. Symmetrical distribution of colors and structures, nodularity, ulcerations, shiny white streak, and age (>/≤ 12 years) must also be taken into account before deciding whether to reassure these patients, monitor the lesions or excise them. Based on these criteria, the International Society of Dermoscopy proposed a management algorithm (Figure 4).

Histologically, the Spitz nevus is composed of multiple epithelioid cells with nucleated nucleoli packed within hyperplastic epidermis. The following criteria must be integrated to enable the histological differential diagnosis between typical or atypical spitzoid tumors, including symmetrical distribution of structures, patient’s age, lesion diameter, infiltration of subcutaneous tissue, ulceration, mitotic index, and presence of genetic alterations.

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Update on the management of primary immune thrombocytopenia in adults

Catherine Lambert Published in the journal : December 2021 Category : Actualités thérapeutiques

In recent years, the management of primary immune thrombocytopenic purpura (ITP) has undergone a profound change, owing to an improved understanding of its pathophysiology, the development of new targeted therapeutic molecules, and the updated guidelines of numerous scientific societies, including the Belgian Hematology Society (BHS). The purpose of this article is to review the diagnostic methods, describe both the modalities and objectives of treatment in 2021, and discuss the new therapeutic options made available to us.

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Anticoagulation: What place for low-molecular weight heparins in 2022?

Cédric Hermans Published in the journal : December 2021 Category : Actualités thérapeutiques

Despite the therapeutic revolution brought about by direct oral anticoagulants (DOACs) over recent years, low-molecular weight heparins (LMWHs) keep on playing a major role in the antithrombotic management of numerous patients, either as alternatives to AODs or as first-line drugs. The indications for the latter include pregnancy, cancer, or venous thrombo-embolic disease prevention. After a brief summary recalling the main characteristics and properties of LMWHs, this article proposes a practical review that is primarily focused on the current indications for LMWHs and their precautions for use. The article also reminds us that not all LMWHs are to be considered as equivalent. This particularly concerns tinzaparin, exhibiting a higher molecular weight and less renal elimination, thus being an agent of choice in the treatment of venous thromboembolic disease, especially within the neoplasia context.

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SARS-CoV-2 vaccination of kidney transplant recipients

Hélène Georgery (1*), Arnaud Devresse (1*), Jean Cyr Yombi (2), Eric Goffin (1), Nada Kanaan (1) Published in the journal : September 2021 Category : Nephrology

Kidney transplant recipients (KTRs) are at increased risk of developing severe and lethal COVID-19 compared to the general population. Current therapies against severe acute respiratory coronavirus virus 2 (SARS-CoV-2) infections are still limited. Nevertheless, growing evidence has revealed that KTRs exhibit a poor response to standard vaccine regimens, with humoral immune responses of roughly 50% at one month following two mRNA anti-SARS-CoV-2 vaccine doses. Moreover, most responders were shown to exhibit low antibody titers. Our experience at Cliniques universitaires Saint-Luc is perfectly in line with such data.

Considering these disappointing results, it is apparent that other strategies are required for KTRs and immunosuppressed patients, including a third vaccine dose along with monoclonal antibody therapy. This work’s aim is to provide a review on this topic and report on our experience at Cliniques universitaires Saint-Luc.

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Periprosthetic joint infection: general principles for primary care physicians

Quentin Muller (1), Randy Buzisa Mbuku (1), Hervé Poilvache (1), Maïté Van Cauter (1), Jean-Cyr Yombi (2), Olivier Cornu (1) Published in the journal : October 2021 Category : Orthopedics

Prosthetic joint infection (PJI) is a dramatic complication, with devastating and costly consequences for both the patient and healthcare system. Despite the progress made in the past decades, its incidence remains stable at around 0.5 to 2%. With the ageing population, the number of prostheses steadily increases, with consequently an increased number of infections. PJI management is complex and requires a multidisciplinary approach, including surgical treatment and antibiotic administration. A delayed diagnosis likely displays serious consequences for the patient. This article summarizes the general management principles of prosthetic joint infections, mainly designed for primary care physicians.

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Perforated jejunal diverticulum with abscess: a literature review

Miroslava Kuzmova, Mikhael Salame, Philippe Colonval (1) Published in the journal : October 2021 Category : Clinical Report

Acquired diverticula of the small intestine are formed via a mucosa and submucosa herniation through the muscular layer of the intestinal wall.

These diverticula remain asymptomatic in 60 to 70% of cases. Symptoms, when present, are non-specific, as they likely imitate other acute intra-abdominal conditions. The etiological diagnosis proves often difficult following initial assessment. In most cases, an exploratory laparoscopy is necessary in view of an accurate diagnosis.

This article consists of an exhaustive review of the literature in regard to this pathology.

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Covid-19 related suffering: patients and geriatricians on an equal footing

Dominique Piette, Catherine Magnette Published in the journal : October 2021 Category : Geriatry

This article describes the case of two elderly patients suffering from COVID-19 and admitted to a geriatric ward. It refers to the physical but, above all, psychological suffering that affects both the patients and their geriatricians at their bedside. Based on international literature, we analyze the severity of COVID-19 consequences on mental health. Moreover, we also add recommendations to be implemented so as to limit the impact of this long-term suffering.

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Antenatal management of disorders of sex development

Cécile Habran (1), Marie Laterre (2), Julie Fudvoye (3), Michelle Nisolle (4) Published in the journal : October 2021 Category : Clinical Report

Disorders of sex development (DSD) represent a diagnostic challenge. The complexity and variability of DSD and their psychosocial consequences require multidisciplinary care, including obstetricians, endocrino-pediatricians, clinical geneticists, pediatric urologists, neonatologists, psychologists, as well as child psychiatrists. The clinical case described herein is a genotypic-phenotypic discordance. Indeed, the non-invasive prenatal test argued in favor of a male chromosomal sex, whereas the fetal ultrasound was rather in favor of a female phenotype. The antenatal biological explorations will likely enable us to review both the mechanisms and genes involved in sex determination and sexual differentiation. Currently, a molecular diagnosis is found in only 30-50% of cases pertaining to 46, XY. In the event of an unusual external genitalia appearance, 75% of the reported cases are related to 46, XY, the most commonly encountered being hypospadias. The etiology retained in this foetal case is idiopathic DSD, with normal testicular function and severe intrauterine growth restriction (IUGR). Despite the improved etiological and genetic knowledge of sexual differentiation, the understanding of the underlying physiopathology is still incomplete, and some clinical situations remain unresolved.

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