A case of primary systemic amyloidosis with AA protein

We present here a case of young adult-onset primary systemic amyloidosis with AA protein. A 29-year-old male presenting with macrohematuria was transferred to our hospital because of aggravation of renal function. Amyloid protein was detected in the bladder, stomach and thyroid. The amyloid protein proved to be AA type by potassium permanganate histochemical analysis. Since secondary amyloidosis was excluded by the laboratory data and there was no family history of amyloidosis, a diagnosis of primary systemic amyloidosis with AA protein was reached. Although the patient was prescribed dimethyl sulphoxide, his renal function worsened with gastrocolic symptoms and a bleeding tendency. Hemodialysis (HD) was then initiated. After starting the HD, the patient's general condition recovered and subsequently the patient on treatment with maintenance HD was discharged.     

Massive systemic amyloidosis associated with light-chain deposition disease

A 72-year-old woman presented with rapidly progressive renal failure and multiple myeloma. The patient died 6 months later of severe hepatic insufficiency. The light-microscopic, immunological and ultrastructural findings showed widespread kappa-light-chain deposits including the kidneys, liver, spleen, heart, lungs, tongue, ovary, pancreas and bone marrow associated with massive AL amyloid deposits in the same organs and in the thyroid gland. The concurrent presence of two different deposits is very unusual and the possible mechanisms for such an association are discussed.     

Spontaneous intramural left atrial hematoma associated with systemic amyloidosis

Spontaneous intramural left atrial hematoma is very rare. We describe a case of spontaneous intramural left atrial hematoma that had to be semiurgently resected. Postoperatively, the patient was diagnosed as having systemic immunocyte-derived (AL) amyloidosis, because of rare manifestations of fatal bleeding. Though spontaneous intramural left atrial hematoma is one of the severe complications of systemic AL amyloidosis, we believe that amyloid deposits caused fragility of the left atrial wall.     

Renal amyloidosis in a child with neutropenia

Amyloidosis represents a heterogeneous group of disorders of protein metabolism and is characterized by deposition of fibrillar proteins in the intra- and extracellular spaces. Here, a case of generalized amyloidosis associated with neutropenia is presented. She had a medical history of multiple bacterial infections. At the age of 14 years, she developed nephrotic syndrome. An increase of antigenic stimulation during the intermittent bouts of acute infections would have been the main factor responsible for the development of secondary amyloidosis in this case. To the best of our knowledge, coexistence between neutropenic disorders and renal amyloidosis in children has not been reported till date. The purpose of this report is to present a case of secondary amyloidosis associated with neutropenia in pediatric age group, probably for the first time.     

A case of systemic lupus erythematosus associated with multiple intracranial aneurysms

The author reports a case of systemic lupus erythematosus (SLE) with multiple intracranial aneurysms and subarachnoid hemorrhage. A 31-year-old woman was admitted to the department of internal medicine of Shizuoka General Hospital for the treatment of nephrotic syndrome due to systemic lupus erythematosus on 1984. She spend an uneventful life until April, 1985 when she suddenly complained of severe headache and nausea. The computed tomographic scan revealed subarachnoid hemorrhage and the cerebral angiography showed multiple intracranial aneurysms and stenotic lesion. A review of the literature was made to clarify the incidence, the pathological change, and the prognosis of systemic lupus erythematosus with subarachnoid hemorrhage. The incidence of subarachnoid hemorrhage in SLE was about two percent in the reported clinical cases. The mechanisms of the subarachnoid hemorrhage and the aneurysmal formation in SLE seemed to be due to angitic changes, which involved the vessels of the whole body systematically. The exact prognosis of SLE with subarachnoid hemorrhage is difficult to say, but it seems to be unfortunately poor due to multiplicity of the lesion and the difficulty of its treatment.     

Long-term experience with renal transplantation in systemic amyloidosis: a case report

Renal transplantation was performed on a 39-year old woman with secondary amyloidosis due to rheumatoid arthritis. She remains alive and renal function has been maintained satistfactorily with the exception of proteinuria ten years after transplantation. Recent renal biopsy showed no amyloid recurrence, but the presence of chronic rejection reaction and mild cyclosporin arteriolopathy. Symptoms related to systemic amyloidosis and rheumatoid arthritis improved after transplantation. Renal transplantation is the recommended therapy for the type AA systemic amyloidosis. This is the second report of long-term experience with renal transplantation in systemic amyloidosis in Japan.     

Hereditary systemic amyloidosis with renal involvement

Hereditary systemic amyloidosis is caused by deposition of genetically variant proteins as amyloid fibrils. The types that present with renal disease are usually associated with mutations in the genes for either apolipoprotein AI, apolipoprotein AII, lysozyme or fibrinogen A alpha-chain. These diseases are inherited in an autosomal dominant manner with variable penetrance, and can present clinically at any time from the teen years to old age, though usually in mid-adult life. Hereditary amyloidosis is uncommon, but its precise characterization has major implications for patient management and genetic counseling, and it has been an extremely valuable model for elucidating the pathogenesis of amyloid deposition generally. The amyloidogenic variant proteins associated with hereditary amyloidosis are less stable than their normal wild type counterparts and even under physiological conditions can populate partly unfolded states, involving loss of tertiary or higher order structure, which readily aggregate with retention of beta-sheet secondary structure into protofilaments and fibrils. The clinical phenotype of hereditary renal amyloid is non-specific and is readily misdiagnosed as acquired AL amyloidosis. Indeed, we have lately demonstrated that five percent of patients with apparent sporadic amyloid have hereditary fibrinogen A alpha-chain amyloidosis associated with the valine 526 variant. Penetrance of this particular mutation is extremely low in most families obscuring the genetic etiology, but the renal histology is very characteristic showing substantial accumulation of amyloid within enlarged glomeruli, but none in blood vessels or the interstitium. DNA analysis is now performed routinely in UK National Amyloidosis Centre in patients with systemic amyloidosis in whom AA or AL fibril type cannot be definitively verified.     

Hypothyroidism in association with systemic amyloidosis

Background. Systemic amyloidosis leads to functional compromise of various organs through infiltration of these tissues by amyloid protein. The majority of affected patients develop infiltration of the thyroid gland; yet thyroid dysfunction rarely occurs. Methods and Results. Described herein is a case of hypothyroidism occurring in a patient with amyloid goiter. An alternative explanation for her hypothyroidism could not be determined by histologic or serologic evaluation. Hormonal assays were consistent with progressive hypothyroidism in spite of oral and, finally, parenteral replacement therapy. A review of the literature describes other cases of thyroid dysfunction reported in patients with systemic amyloidosis. Conclusions. This case illustrates how amyloid infiltration may be a cause of hypothyroidism in patients with systemic amyloidosis. Therefore, all patients who develop a goiter, including those with systemic amyloidosis, must be screened for thyroid dysfunction. When a physician diagnoses the patient with hypothyroidism, that physician must be aware of potential pitfalls in the administration of thyroxine replacement as outlined below.     

A case of systemic lupus erythematosus associated with spontaneous bilateral epidural hematomas

The authors reported a case of systemic lupus erythematosus (SLE) associated with bilateral epidural hematomas which had developed without any recent trauma. A 34-year-old male suddenly suffered from a severe headache and vomited several times. He had no neurological deficits on admission, but CT scans of the head revealed abnormal high density areas over the parieto-occipital regions beneath the calvarium bilaterally. At the operation, fresh epidural clots were removed. There were neither evidence of trauma nor abnormal structures which might have led to the development of the clots. He was discharged a month later, being free from any signs and symptoms. One year later, arthralgia progressed and cutaneous ulceration appeared on his feet. On the second admission, butterfly rash on the face, alopecia, polyarthritis and arthralgia, photosensitivity, systemic purpura and proteinuria were noted. With detailed immunological examinations and renal biopsy, he was diagnosed as SLE. SLE is often associated with neurologic and psychic disorders and there are some cases of intracranial hemorrhage among them. However, the association with epidural hematoma has not been reported to date. We think the degeneration of the dural vessels caused by underlying SLE resulted in the development of these epidural hematomas. We also reviewed the literature about spontaneous epidural hematoma and about bilateral epidural hematomas.     

A case of primary amyloidosis associated with giant cell infiltration within a Bowman's capsule]

A 67-year-old man was hospitalized with a diagnosis of nephrotic syndrome. Physical findings at admission were generalized edema and macroglossia. Urinalysis showed massive proteinuria, + +occult blood, and granular and broad casts. Ig A lambda monoclonal gammopathy was noted in the serum. There was no evidence of myeloma in the bone marrow aspirate, scintigram or X-ray of the bone. A biopsy specimen of the kidney showed massive deposits of structureless material in the glomeruli. Marked cell infiltration was also observed in the interstitium. Multinucleated giant cells were occasionally seen in the Bowman's capsules and the interstitium. There were reactive changes in the Bowman's capsule adjacent to the giant cell. The deposits were proved to be amyloid by positive staining with Congo red and apple-green birefringence by polarized light. In addition, microfibrills seen on electron microscopy displayed deposits. Amyloid depositions were observed in other tissues such as gingiva, skin and tongue. Staining of amyloid with Congo red was resistant to potassium permanganate, and amyloid was positively stained with lambda-light chain of immunoglobulin. These findings indicated that the patient had primary amyloidosis. Infiltration of the multinucleated giant cell has been reported only in patients with familial amyloidosis and secondary amyloidosis associated with rheumatoid arthritis. To our knowledge the present case is a first report of the giant cell infiltration in a Bowman's capsule in primary amyloidosis.     

A case of emphysematous cystitis with familial amyloidosis

This is a report of the thirteenth known case in Japan of emphysematous cystitis. A 70-year-old man visited our hospital because of pollakisuria and macrohematuria on November 21, 1989. The patient had been known to have familiar amyloid polyneuropathy for the previous 3 years. Urinalysis showed marked hematopyuria. The residual urine was 216 cc, and urine cultures yielded 10,000,000 colonies of Escherichia coli per ml. Laboratory studies revealed systemic inflammatory findings, but no diabetic change. A plain X-ray film of the abdomen and an excretory urogram (DIP) showed small linear and round gas collections in the bladder shadow. A CT scan revealed multiple gas locules within the bladder wall. A diagnosis of emphysematous cystitis was established. The patient was given antibiotics, and there was striking clinical improvement. Histological examination of the endoscopically obtained biopsy specimen of the bladder revealed amyloidosis. We believe that this patient had a cystitis emphysematosa precipitated neurogenic bladder due to amyloid polyneuropathy and amyloidosis of the bladder.     

A case of bladder amyloidosis

Herein we report a case of bladder amyloidosis treated successfully with TUR & DMSO bladder instillation. A diagnosis was made by a biopsy of the bladder epithelium. Amyloid fibrils were confirmed in the biopsy specimen with polarization and electron-microscopy. The patient was treated with TUR. The residual lesion had disappeared with DMSO bladder instillations for 4 months (12X) without side effects after TUR. Thus DMSO bladder instillation with surgical resection seems to be an excellent therapy for bladder amyloidosis.     

A huge fecalith associated with dialysis-related gastrointestinal amyloidosis

A 60-year-old man who had been receiving dialysis for more than 30 years was admitted for treatment of cellulitis in his right thigh on November 7, 2003. He suffered from an ileus on December 14 and was found to have a huge, 7-cm-diameter, well-circumscribed fecalith, incarcerated at the splenic flexure of the colon. It was proving difficult to pass this naturally and surgical removal was thought to be too risky. Using a colonoscope and a water-jet probe, the fecalith was broken up; the ileus then improved and the patient was able to take oral fluids. Unfortunately, he died of cardiac failure on February 13, 2004. We conducted an autopsy, with his family's consent, and found generalized amyloidosis. Deposits of amyloid were seen in all layers of the colon. Because of this, we hypothesized that peristalsis had been poor and this had led to paralytic ileus due to stasis, which, in turn, had led to the formation of the huge fecalith. In Japan it is not rare for a patient to be on dialysis for more than 25 years and it may be that this is a cause of generalized amyloidosis. There have been no such cases of fecalith associated with gastrointestinal amyloidosis described previously, which is why we decided to report this case here.