Simultaneous Pseudo-achalasia and Renal Failure: A Rare Presentation of Amyloidosis

Abstract

49 years old Pakistani male with no significant past medical history presented with 2 weeks history of low grade fever and diarrhea. He also reported almost 12 years history of dysphagia for both solids and liquids for which he was never worked up before. On examination, he was thin lean individual with normal vitals. Apart from signs of wasting he had no significant sign of wasting. Investigations revealed WBC of 13500, Hb 13.3 and platelets 250,000. LFTs were normal, ESR 115mm in 1st hour. Stool examination was unremarkable. BMP showed Creatinine of 3.09 with no significant electrolyte abnormality. Nephrology and gastroenterology were consulted. Further investigation showed 3+ proteinuria, Phosphorous 7.7, Uric Acid 12.9 and Albumin 1.5 and normal complement ANCA and ANA panel. Barium Swallow recommended by GI showed findings of dilated mid and lower esophagus with narrowing of GI junction. Endoscopic dilatation of LES was done successfully. Renal biopsy showed glomeruli with eosinophilic deposits, apple green birefringence on congo red stain, findings consistent with amyloidosis. Test to rule out Multiple Myeloma were performed and they were negative. Patient was discharged with diagnosis of amyloidosis with renal and gastrointestinal involvement. He is regularly followed up by GI and Renal and reports improvement in symptoms. Discussion: Although amyloidosis involve pretty much every system of the body including renal and GI, but achalasia is very rarely presenting symptom of amyloidosis. GI tract is usually involved in 60% of cases of amyloidosis, however the more frequent presentations are GI bleeding, diarrhea and motility disorder depending on the site of involvement. Esophageal involvement is seen in just 13% of the cases. However in most cases the symptoms are usually those of reflux. Ours is a rare case where dysphagia is the presenting symptom and patient also had advanced renal disease with it. Therapy is usually aimed at treatment of underlying disease and relieving symptoms. Although gastrointestinal symptoms are rarely cause of death, renal failure frequently is. Renal failure is treated with dialysis or transplant. Recurrent amyloid deposition in the transplant occurs in 20 to 33 percent of cases due to continued activity of the underlying disease, but graft loss due to recurrence is uncommon.Figure 1