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Macroglossia Associated With Primary Systemic Amyloidosis - Case Report With Unusual Clinical Presentation
Suriyakala Muniyan1, Leela Sreekantan Nair Sreela1, Philips Mathew1
1Department of Oral Medicine and Radiology, Government Dental College Kottayam, Kerala, India.
Background:
Amyloidosis is characterised by the deposition of fibrillar insoluble proteinaceous material called amyloid in the extracellular spaces. It may present as localized form which is rare and systemic form. Systemic amyloidosis involves many organs like kidney, heart and liver. Manifestations of both types may vary based on the age of onset, degree and extension of the deposition. Understandably, the diagnosis is challenging but the early identification of the condition and the type of amyloidosis can increase the efficiency of treatment. Positive Congo red staining is the gold standard for demonstration of amyloid in tissue sections. Here we are presenting a case of a 77-year-old female patient who presented with the complaint of difficulty in swallowing for 2 years due to bilateral symmetrical enlargement of the tongue which was subsequently diagnosed as systemic amyloidosis.
Insights
Systemic amyloidosis, a rare condition involving protein deposition, can cause tongue enlargement and swallowing difficulties. Early diagnosis using Congo red staining is crucial for effective treatment of this challenging disease.
Area of Science:
- Medicine
- Pathology
- Rare Diseases
Background:
- Amyloidosis involves extracellular deposition of insoluble fibrillar proteins (amyloid).
- It presents in localized or systemic forms, affecting organs like kidneys, heart, and liver.
- Diagnosis is challenging due to varied manifestations based on deposition extent and onset age.
Observation:
- A 77-year-old female presented with a 2-year history of dysphagia.
- The dysphagia was attributed to bilateral symmetrical tongue enlargement.
- This clinical presentation suggested an underlying systemic condition.
Findings:
- The patient's condition was diagnosed as systemic amyloidosis.
- Positive Congo red staining confirmed amyloid deposition in tissue sections.
- This case highlights an unusual manifestation of systemic amyloidosis.
Implications:
- Early identification of amyloidosis and its subtype improves treatment efficacy.
- Recognizing rare presentations like macroglossia is vital for timely diagnosis.
- This case underscores the importance of histopathological confirmation using Congo red staining.
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