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Abstract:
A series of 29 cases of amyloidosis of the alimentary tract is reported. Five cases (17%) were primary amyloidosis; 14 cases (48%) were amyloidosis secondary to other diseases (such as chronic inflammatory and neoplastic diseases); 10 cases (35%) were amyloidosis of the heredo-familial type connected with Familial Mediterranean Fever. In 23 patients (79%) the diagnosis was established by biopsies, and in 6 more cases on autopsy. Gastrointestinal involvement was found in all age groups. Gastro-enterologic complications observed in the present series include: diarrhea, malabsorption, ileus and gastrointestinal bleeding. In addition other conditions such as jaundice (3 cases), esophagitis and acute hemorrhagic pancreatitis were observed. In 22 patients proteinuria was observed and in 13 patients the nephrotic syndrome. Among 17 patients, in 11 the clinical picture before death was that of terminal renal failure. The survival after diagnosis among 14 patients reached 4 years in 9 cases, and 19 years in one case. The diagnostic value of the rectal biopsy is emphasized.
Insights
Amyloidosis of the alimentary tract presents diverse forms, including primary, secondary, and heredo-familial types. Rectal biopsy is highlighted as a valuable diagnostic tool for gastrointestinal amyloidosis.
Area of Science:
- Gastroenterology
- Nephrology
- Genetics
Context:
- Amyloidosis, a condition involving protein buildup, can affect the alimentary tract.
- Understanding the varied etiologies and clinical manifestations is crucial for patient management.
- Familial Mediterranean Fever is a significant associated condition in heredo-familial amyloidosis.
Purpose:
- To report on a series of 29 cases of amyloidosis affecting the alimentary tract.
- To analyze the different types, diagnostic methods, clinical complications, and outcomes.
- To emphasize the diagnostic utility of rectal biopsy in gastrointestinal amyloidosis.
Summary:
- The study analyzed 29 cases of alimentary tract amyloidosis: 17% primary, 48% secondary to other diseases, and 35% heredo-familial (linked to Familial Mediterranean Fever).
- Diagnosis was confirmed via biopsy in 79% of patients; gastrointestinal complications included diarrhea, malabsorption, ileus, and bleeding.
- Renal involvement, such as proteinuria and nephrotic syndrome, was common, with terminal renal failure observed in 11 patients. Survival varied, with some patients living up to 19 years post-diagnosis.
Impact:
- Highlights the diverse clinical presentations and complications of alimentary tract amyloidosis.
- Underscores the importance of biopsy, particularly rectal biopsy, for accurate diagnosis.
- Provides insights into patient survival and the significant impact of renal complications.