Weight loss, diarrhea, and polyneuropathy: could it be amyloidosis?
Background: Amyloidosis is a multisystemic disease that may be hereditary, characterized by the deposit of amyloid in the extracellular space. Transthyretin-mediated (ATTRm) amyloidosis is the most common subtype of heredofamilial amyloidosis. The diagnosis is based on clinical suspicion and amyloid...
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| Veröffentlicht in: | European Journal of Medical Case Reports 2024, Vol.8 (7), p.139-145 |
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| container_title | European Journal of Medical Case Reports |
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| creator | Galindo, Luis Francisco Pineda Cortés, Zully Esmeralda Contreras Martínez, Andrea Avila del Rosario Mora Campos, María Jiménez, Elsa Acosta Torres, Armando Pérez |
| description | Background: Amyloidosis is a multisystemic disease that may be hereditary, characterized by the deposit of amyloid in the extracellular space. Transthyretin-mediated (ATTRm) amyloidosis is the most common subtype of heredofamilial amyloidosis. The diagnosis is based on clinical suspicion and amyloid in tissues. Hepatic transplantation is the only treatment that prevents the synthesis of the amyloidogenic variants of transthyretin protein. Case Presentation: A 34-year-old male presented with weight loss, gastrointestinal symptomatology, and polyneuropathy associated with histopathologic deposits of amyloid in gastrointestinal and fat tissue as well as peripheral nerve. Conclusion: Hereditary familial amyloidosis (HFA) is a relatively rare disorder that leads to erroneous and delayed definitive diagnosis. Therefore, the diagnosis should be first based on a suspicion of the disease, and then proceed according to complete protocol. |
| doi_str_mv | 10.24911/ejmcr.173-1660235974 |
| format | Article |
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Transthyretin-mediated (ATTRm) amyloidosis is the most common subtype of heredofamilial amyloidosis. The diagnosis is based on clinical suspicion and amyloid in tissues. Hepatic transplantation is the only treatment that prevents the synthesis of the amyloidogenic variants of transthyretin protein. Case Presentation: A 34-year-old male presented with weight loss, gastrointestinal symptomatology, and polyneuropathy associated with histopathologic deposits of amyloid in gastrointestinal and fat tissue as well as peripheral nerve. Conclusion: Hereditary familial amyloidosis (HFA) is a relatively rare disorder that leads to erroneous and delayed definitive diagnosis. Therefore, the diagnosis should be first based on a suspicion of the disease, and then proceed according to complete protocol.</description><identifier>ISSN: 2520-4998</identifier><identifier>EISSN: 2520-4998</identifier><identifier>DOI: 10.24911/ejmcr.173-1660235974</identifier><language>eng</language><publisher>London: Discover Publishing Group</publisher><subject>Amyloidosis ; Apolipoproteins ; Biopsy ; Chronic illnesses ; Creatinine ; Diarrhea ; Disease ; Electromyography ; Hospitals ; Internal medicine ; Proteins ; Small intestine</subject><ispartof>European Journal of Medical Case Reports, 2024, Vol.8 (7), p.139-145</ispartof><rights>Copyright Discover Publishing Group 2024</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c747-18a0f4222242f804364aa57a1f2e7e8adc23bc08147c0a66226fe012a06bfdd73</cites><orcidid>0000-0003-3937-159X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids></links><search><creatorcontrib>Galindo, Luis Francisco Pineda</creatorcontrib><creatorcontrib>Cortés, Zully Esmeralda Contreras</creatorcontrib><creatorcontrib>Martínez, Andrea Avila</creatorcontrib><creatorcontrib>del Rosario Mora Campos, María</creatorcontrib><creatorcontrib>Jiménez, Elsa Acosta</creatorcontrib><creatorcontrib>Torres, Armando Pérez</creatorcontrib><title>Weight loss, diarrhea, and polyneuropathy: could it be amyloidosis?</title><title>European Journal of Medical Case Reports</title><description>Background: Amyloidosis is a multisystemic disease that may be hereditary, characterized by the deposit of amyloid in the extracellular space. 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| subjects | Amyloidosis Apolipoproteins Biopsy Chronic illnesses Creatinine Diarrhea Disease Electromyography Hospitals Internal medicine Proteins Small intestine |
| title | Weight loss, diarrhea, and polyneuropathy: could it be amyloidosis? |
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