The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.

Background: Bile acid synthesis defects (BASDs) can be severely disabling involving the liver and nervous system, potentially due to elevated levels of toxic C-bile acid intermediates. Cholic acid (CA) supplementation is hypothesized to decrease bile acid production, stimulate bile secretion and -flow, and slowing down disease progression. This systematic review assesses the clinical and biochemical effectiveness, and safety of CA in BASDs patients.

Oral Verruciform Xanthoma of the Lower Lip: A Rare Entity.

Oral verruciform xanthoma (OVX) is a rare entity, and only a handful of cases have been reported in the literature to date. This innocent-looking lesion can mimic any benign epithelial or connective tissue origin neoplasm. It can present with variations in surface color and texture.

Verruciform Xanthoma Presenting Within an Ear Piercing.

Verruciform xanthomas are rare lesions affecting 0.025-0.5% of the population.

Challenges in the identification and quantification of an unknown impurity in chenodeoxycholic acid drug substance.

In 2018 the Amsterdam University Medical Centre decided to prepare chenodeoxycholic acid (CDCA) capsules (also known as pharmacy compounding) for patients with the genetic metabolic disease cerebrotendinous xanthomatosis (CTX) when the product with a marketing authorization was commercially unavailable for patients. However, after reanalysis, unknown impurities were identified in the CDCA active pharmaceutical ingredient (API) using thin-layer chromatography from the European Pharmacopoeia (Ph.Eur.

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis, and Smith-Lemli-Opitz syndrome.

Disease-specific sterols accumulate in the blood of patients with several rare lipid disorders. Biochemical measurement of these sterols is important for correct diagnosis and sometimes monitoring of treatment. Existing methods to measure sterols in blood, particularly plant sterols, are often laborious and time consuming.

The clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population.

Aim: The aim of this study was to examine the clinical, laboratory and demographic characteristics of patients diagnosed with cerebrotendinous xanthomatosis.

Materials And Methods: This study included 11 patients followed up in the Paediatric Metabolism Polyclinic for a diagnosis of CTX. The diagnosis of CTX was made from high blood cholestanol level and CYP27A1 gene analysis.

Skin as a Reflection of Gut Health: An Overview of Dermatological Manifestations in Primary Neoplastic and Autoimmune Gastrointestinal Disorders.

Gastrointestinal (GI) diseases can present with several extraintestinal manifestations, and cutaneous signs and symptoms are most frequent. Although conventionally GI and skin are considered two entirely separate organ systems, they are closely correlated in origin. An increasing amount of data highlights the complex relationship between GI and dermatological conditions.

Early-onset familial hypercholesterolemia: A case of extensive xanthomas and premature coronary artery disease.

Key Clinical Message: Early recognition and management of familial hypercholesterolemia (FH) are crucial, especially in patients with extensive xanthomas and premature coronary artery disease. Prompt diagnosis and aggressive lipid-lowering therapy can significantly reduce morbidity and mortality rates. Careful clinical assessment in resource-limited settings is essential for optimal outcomes.