RESUMEN
Spontaneous coronary artery dissection (SCAD), an uncommon cause of acute coronary syndrome, continues to be a poorly understood disease predominantly affecting females. It is characterized by an abrupt separation in the coronary arterial wall due to intramural bleeding. Fibromuscular dysplasia (FMD) is a non-atherosclerotic arteriopathy manifesting in medium and small-sized arteries. It is a concomitant disease found among SCAD patients. In some studies, FMD prevalence in SCAD patients ranges between 25%-86%, which can be explained through varying screening techniques or modalities. The potential association has been elucidated in some studies; notably, not only has a genetic link been recently delineated between SCAD and FMD, but there is data to suggest that FMD not only can predispose to SCAD but can also be a potential predictor of its recurrence. However, a clear-cut correlation between the two has still not been established due to conflicting reports in the literature. To further dive into its pathology, it is crucial to highlight the importance of systematic screening in SCAD in order to identify associated risk factors and to be used as a method of FMD detection in such patients. Together, the two pathologies pose unique challenges in understanding its pathophysiology, diagnosis and management, as there is no clear evidence of a definitive treatment plan for patients with SCAD and FMD. A potentially beneficial modality of management is physical exercise, which is currently understudied in the long-term approach to treatment for patients with concomitant SCAD and FMD. Limited research in this field brings disadvantages to the understanding of the association between these two diseases, in order to give rise to better management recommendations. This mini-review aims to highlight the recent developments in the association between SCAD and FMD, its potential genetic association and some insights in screening, diagnosis, and management.
RESUMEN
Primary Ewing sarcoma of the kidney (ESK) is a rare and aggressive entity, with a poor prognosis. It often presents as metastatic disease with the lungs being the most common site. In adults, the occurrence of these tumors is uncommon, with patients exhibiting non-specific symptoms such as weight loss, flank pain, hematuria, and an abdominal mass. The combination of these vague clinical symptoms and the rarity of these tumors often results in a delayed diagnosis, leading to poorer outcomes for these patients. We present a case of a 38-year-old female with metastatic ESK. The patient initially presented with abdominal pain, vomiting, and a four-day history of constipation. The diagnosis was confirmed through computed tomography scans, ultrasound-guided biopsy of the lesion, and fluorescence in situ hybridization that revealed translocation of the EWS gene on chromosome 22q12. She was managed with chemotherapy regimens and palliative care; however, the disease progressed and she passed away six months after her initial diagnosis.
RESUMEN
Spontaneous coronary artery dissection (SCAD) is a non-atherosclerotic separation of the coronary artery wall with subsequent intramural hematoma (IMH) formation in the false lumen. It can be associated with or without an intimal tear. It is clinically divided into three types based on its angiographic appearance. Most SCAD cases are seen in young or middle-aged women, especially in a peripartum state. Additionally, SCAD patients usually have fewer cardiovascular risk factors and more commonly have predisposing conditions like fibromuscular dysplasia (FMD). Patients present with features of chest pain that radiates to the left arm or neck, shortness of breath (SOB), as well as nausea and vomiting. Coronary angiography is the most widely used first-line modality to diagnose this condition. Management is usually conservative; however, invasive procedures can be utilized for high-risk patients. We present a case of a 54-year-old woman with SCAD diagnosed using coronary angiography and treated conservatively with dual-antiplatelet therapy, culminating with resolution.
RESUMEN
Calciphylaxis, or calcific uremic arteriolopathy, is a rare and deadly disease that affects patients with end-stage renal disease (ESRD). It typically manifests in the abdomen and lower extremities. We present a case of a 59-year-old female patient on dialysis due to ESRD who complained of a three-week history of hemorrhagic and painful bilateral lower limb lesions. The predominant clinical suspicion was warfarin-induced skin necrosis (WISN); however, the persistence of unresolved skin lesions post-warfarin cessation generated the impression of calciphylaxis. A skin biopsy confirmed the classical histological findings associated with calciphylaxis. This paper highlights the possible importance of warfarin being an inciting event, as well as the early differentiation between the presentations of WISN and calciphylaxis.
RESUMEN
Bile acid synthesis disorders (BASD) are a group of rare autosomal recessive disorders. Of the nine different versions, BASD type 4 is characterized by a gene mutation in alpha-methylacyl-CoA racemase (AMACR), which is located on chromosome 5p13. These disorders generally present with a normal gamma-glutamyl transferase with cholestasis, absence of pruritis, and malabsorption of fat, which can lead to fat-soluble vitamin deficiencies. In adulthood, patients usually develop neurological sequelae. Initial testing can be done through the measurement of urine metabolites; however, confirmation of the diagnosis is achieved through whole exome sequencing. Treatment involves supplementation of oral cholic acid and modification of diet. Only 23 patients with this disease have been described. Here, we report two cases of siblings from a family in Bahrain with a novel AMACR mutation and a unique association with autoimmune antibodies alongside a literature review.