ABSTRACT
Hematological disorders pose a diagnostic challenge due to overlapping clinical features, as demonstrated by the difficulty in differentiating between aplastic anemia (AA) and primary myelofibrosis (PM). Myeloproliferative disorders, characterized by aberrant proliferation of bone marrow stem cells, present complexities in diagnosis, often requiring a comprehensive evaluation to distinguish between disorders with similar manifestations. The distinctions between myelofibrosis and AA lie not only in clinical presentations but also in genetic and molecular markers, necessitating a nuanced diagnostic approach. We present a case of a 37-year-old male initially diagnosed with myelofibrosis based on a history of pancytopenia, warm submandibular and submental swelling, and negative BCR-ABL and JAK2 mutations. Further examination revealed empty fragmented cells, hypoplastic bone marrow, and suppressed erythropoiesis and myelopoiesis. Subsequent core biopsy showed increased megakaryocytes, prompting a revised diagnosis of AA. This case underscores the importance of a meticulous diagnostic journey, incorporating physical examination, genetic testing, and advanced imaging to unravel the complexities of hematological disorders. The intricacies of this case prompt a reevaluation of diagnostic paradigms, highlighting the limitations of relying solely on specific mutations for diagnosis. The absence of BCR-ABL and JAK2 mutations in AA raises questions about its genetic landscape, necessitating further exploration. Immunological considerations, given the immune-mediated nature of AA, provide a foundation for future research into immune dysregulation and potential therapeutic interventions. The clinical management challenges posed by AA underscore the need for personalized treatment strategies, guided by a deeper understanding of its underlying pathophysiology. Advanced imaging techniques, in conjunction with traditional diagnostic methods, emerge as crucial tools for enhancing diagnostic accuracy in hematological disorders. This case serves as a paradigm for ongoing medical education, multidisciplinary collaboration, and innovative approaches in the evolving landscape of hematology, emphasizing the imperative for continuous refinement in diagnostic strategies and patient care.
ABSTRACT
Burning mouth syndrome (BMS) is a rare disorder primarily affecting the oral mucosa and characterized by a chronic burning sensation without specific oral mucosal lesions. This paper presents a case of a 54-year-old adult male patient who complained of chronic burning mouth pain. The clinical diagnosis was made after excluding various differentials, including oral candidiasis, hairy oral leukoplakia, gastroesophageal reflux disease, oral lichen planus, local infective processes, and nutritional deficiencies. Physical examination did not reveal specific signs or lesions related to BMS; however, considering the patient's signs, symptoms, and the exclusion of other possibilities, a possible diagnosis of BMS was considered. The patient was evaluated in an outpatient setting, and management was conducted in this setting to reduce patient costs. This presentation is considered rare, as the disorder predominantly affects postmenopausal females, and most proposed theories behind its pathophysiology revolve around estrogen-mediated modulation of pain receptors. Currently, diagnostic and management criteria for BMS may vary and continue to evolve. The management of this patient focuses on patient education and routine follow-up. This case report presents the management of this particular case, along with a review of other proposed management options.
ABSTRACT
Osler Weber Rendu Syndrome (OWS) is characterized by the development of abnormally dilated blood vessels, which manifest as arteriovenous shunts (pulmonary, gastrointestinal, hepatic, and cerebral) and mucocutaneous telangiectasias (lips, tongue, and fingertips). It is an autosomal dominant disease with a defect in transforming growth factor beta superfamily genes. This defect results in increased angiogenesis and disruption of vessel wall integrity. The disease remains underreported, with occasional history of recurrent epistaxis, iron deficiency anemia, and gastrointestinal bleeding in moderate to severe cases. Diagnosis is based on clinical presentation and confirmed by genetic testing. Various local (nasal saline, air humidification, laser ablation, and electric cauterization for epistaxis and endoscopic Argon Plasma Coagulation-APC for active GI bleeding), surgical, and systemic (tranexamic acid and antiangiogenic agents like bevacizumab and thalidomide) treatment options are used depending upon disease severity. Here, we present a case with recurrent gastrointestinal bleeding refractory to endoscopic APC ablation and thalidomide and severe symptomatic anemia requiring multiple packed red cell transfusions. The patient was ultimately started on bevacizumab, to which he had a good response and has remained in remission for 8 months as of now. This case emphasizes the need to have a low threshold of suspicion to diagnose HHT and start targeted therapy like bevacizumab early on in moderate to severe cases of HHT rather than just relying on temporizing palliative measures like ablation, cauterization, and tranexamic acid.
