Easy bruising and ecchymosis are common symptoms in clinical practice, yet distinguishing benign from clinically significant cases can be challenging. We report the case of a 46-year-old woman who presented in December 2023 with easy bruising and increased menstrual flow, revealing new-onset pancytopenia in laboratory tests. Initially diagnosed with Acute Myeloid Leukemia inversion (inv) (16), subsequent results were inconclusive, leading to a diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH). Following clinical and analytical deterioration, a repeat bone marrow study in March 2024 identified Aplastic Anemia (AA). When evaluating easy bruising and ecchymosis, a thorough history and physical examination are essential, sometimes requiring further investigation and referral. AA is a rare and heterogeneous disease that requires excluding other causes of bone marrow failure for proper diagnosis. Its severity and the patient's age determine treatment and prognosis. This case underscores the importance of investigating common symptoms that may signal serious underlying conditions, as well as the complexities involved in diagnosing AA.
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http://dx.doi.org/10.7759/cureus.75689 | DOI Listing |
Cureus
December 2024
Family Medicine, Family Health Unit (USF) Almedina, Local Health Unit of Trás-os-Montes and Alto Douro (ULSTMAD), Lamego, PRT.
Easy bruising and ecchymosis are common symptoms in clinical practice, yet distinguishing benign from clinically significant cases can be challenging. We report the case of a 46-year-old woman who presented in December 2023 with easy bruising and increased menstrual flow, revealing new-onset pancytopenia in laboratory tests. Initially diagnosed with Acute Myeloid Leukemia inversion (inv) (16), subsequent results were inconclusive, leading to a diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH).
View Article and Find Full Text PDFCureus
November 2024
Endocrinology and Metabolism, University of Rochester School of Medicine and Dentistry, Rochester, USA.
Ectopic adrenocorticotropic hormone (ACTH)-dependent Cushing is a rare syndrome. We present a case that illustrates the diagnostic and therapeutic challenges of ectopic Cushing. A 35-year-old woman presented to the outpatient clinic for evaluation of progressive weight gain, muscle weakness, easy bruising, uncontrolled hypertension, and hyperglycemia.
View Article and Find Full Text PDFHaemophilia
November 2024
Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Miami-Miller School of Medicine, Miami, Florida, USA.
Introduction: The needs of haemophilia carriers (HC) have been historically overlooked. It is now recognised that HC manifests bleeding symptoms, including haemarthrosis. The natural history of joint health in HC is not yet defined.
View Article and Find Full Text PDFAm Fam Physician
November 2024
Uniformed Services University of the Health Sciences, Scott Air Force Base, Ill.
Easy bruising and bleeding are commonly seen in primary care. Use of a bleeding assessment tool and a comprehensive history, physical examination, and patient-provided photographs can help identify causes of abnormal bleeding and bruising. Family history can aid diagnosis of a heritable cause.
View Article and Find Full Text PDFJ Clin Lipidol
October 2024
Department of Biological Sciences, National University of Medical Sciences, Rawalpindi 46000, Pakistan. Electronic address:
Sitosterolemia is a rare autosomal recessive disorder characterized by impaired excretion of plant sterols, leading to their accumulation in tissues and organs. We identified a hitherto unreported homozygous variant, in ATP-binding cassette sub-family G member 5 (ABCG5) (NM_022436.3) c.
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