Biomedical subjects
Publications and source records attributed to A Rubinow.
We describe a patient whose cutaneous manifestations of psoriatic arthritis were exacerbated while she was treated with ibuprofen. Discontinuation of the medication resulted in immediate improvement of the skin lesions. Reappearance of the joint symptoms prompted the patient to take ibuprofen again, after which she experienced a flare of new psoriatic plaques.
The motility of the esophagus was studied by esophageal manometry in eight patients with familial amyloid polyneuropathy. All eight patients had an abnormality of the lower esophageal sphincter. Seven of eight had a borderline or decreased lower esophageal sphincter pressure and the other patient had a non-relaxing lower esophageal sphincter pressure. Six of eight patients had abnormalities of the body of the esophagus consisting of either simultaneous or decreased amplitude of contractions involving the smooth or striated muscle or both. In addition, seven of eight patients had diarrhea and six of these seven patients had evidence for steatorrhea. The manometric abnormalities observed were consistent with deposition of amyloid in smooth and striated muscle as well as in the enteric nervous system. Esophageal manometry appears to be a sensitive technique to determine if the gastrointestinal tract is involved in familial amyloid polyneuropathy.
A 62-year-old man presented with a localized upper-extremity small cell lymphoma with plasmacytoid features and an associated IgM lambda serum immunoglobulin level of 1,730 g/dl. The tumor was treated with 5,960 rad over 47 days. On completion of radiation therapy, the tumor had regressed only minimally, and the monoclonal immunoglobulin level had decreased by 63 per cent; repeat biopsy revealed that the lymphoma had been replaced by a virtually acellular mass of amyloid. It is postulated that radiation therapy accelerated the tissue conversion of lambda light chain into the beta-pleated sheet structure characteristic of amyloid fibrils.
Amyloid fibrils in familial amyloid polyneuropathy, the familial (AF) form of systemic amyloidosis, are composed of the monomeric unit (14,000 MW) of prealbumin molecules. By radioimmunoassay, the serum level of prealbumin was measured in 25 patients from 12 different kinships with this dominantly inherited form of amyloidosis and 56 unaffected, but at risk, relatives from two of the kinships. Results were compared to prealbumin levels in normal individuals and patients with primary (AL) and secondary (AA) forms of systemic amyloidosis. Significantly lowered prealbumin levels were found in the AF patients (149.2 micrograms/ml) and their at risk relatives (169.0 micrograms/ml) when compared to normal individuals (232.9 micrograms/ml), AL patients (221.9 micrograms/ml) and AA patients (211.7 micrograms/ml). No abnormality was found in levels of retinol binding protein (RBP), which is carried by prealbumin, in the serum of either the AF patients or their relatives. The depressed prealbumin levels may indicate a structural variant molecular form, an extra hepatic synthesis or an abnormality in catabolism of this protein that is present prior to the clinical or histopathologic onset of the AF disease.
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Major histocompatibility antigens (HLA loci A, B and C) were determined in 28 Israeli patients with Reiter's syndrome. The HLA-B27 antigen was found in only 8 (29%). Seven of the 20 B27 negative patients (35%) demonstrated crossreactive group antigens (CREG) B7, or Bw 22. HLA-B40 or Bw42 were not found. Only 3 of the 13 (22%) patients with the classical triad were B27 or Bw22 positive. In contrast, 12 of 15 patients with incomplete RS carried the B7 CREG antigens. These data suggest that in the Israeli population Reiter's syndrome is infrequently associated with HLA-B27 and that the B7 CREG antigens may be additional markers for this form of reactive arthritis.
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Amyloidosis is rarely considered in the differential diagnosis of breast masses. During the past six years, 27 women with primary (24) and multiple myeloma-associated (three) amyloidosis (AL amyloid) were evaluated at our center. In five of these patients, amyloid was demonstrated on microscopic examination of breast tissue. The clinical presentations were similar to fibrocystic breast disease in two cases and malignancy in two others. Amyloidosis of the breast may be more common than previously recognized, especially considering the predilection of amyloid for depositing around fat cells. Therefore, pathologic examination of nonmalignant breast tissue should include Congo red staining and viewing under polarized light.
A family with autosomal dominant transmitted familial amyloid polyneuropathy residing in Texas is described. Clinically, the prominent sensory and severe autonomic nervous system involvement resembles the Andrade (Portuguese) type I familial amyloid polyneuropathy but is unique in that the age of onset is in the seventh decade in all family members affected to date. Using an immunoperoxidase technique, prealbumin was demonstrated in the amyloid deposits. This finding suggests that this family shares biochemical as well as clinical characteristics consistent with similar kinships with type I familial amyloid polyneuropathy of diverse geographic origin.
Vitreous material obtained at pars plana vitrectomy from a patient with heredofamilial amyloidosis with vitreous involvement and control vitreous from a patient without amyloidosis were subjected to immunocytochemical studies. P component (AP), a minor constituent of all amyloid deposits, was found in trace amounts in the familial amyloid vitreous, but other amyloid proteins, which occur in secondary amyloidosis or in primary amyloidosis, were not found. The major amyloid protein in the vitreous in heredofamilial amyloidosis (but not control vitreous) was found to be prealbumin.
To determine the prevalence of cardiac arrhythmias in patients with systemic amyloidosis 24 hour electrocardiographic monitoring was performed in 27 patients with primary amyloidosis and in 6 patients with familial amyloid polyneuropathy. All patients underwent echocardiographic studies. Despite a high prevalence of conduction disturbances on standard electrocardiogram, clinically significant bradyarrhythmias were rare (one patient). Complex ventricular arrhythmias (multiform, paired or repetitive beats) occurred in 14 patients (47%) with primary amyloid and 3 patients (50%) with familial amyloid polyneuropathy. The presence of cardiac arrhythmia correlated with heart failure and, more strongly, with an abnormal echocardiogram. There were four sudden deaths, all in patients with abnormal echocardiograms and complex ventricular arrhythmias. These findings suggest that complex ventricular arrhythmia on Holter monitoring is common in cardiac amyloidosis and may be a harbinger of subsequent sudden cardiac death.
Familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited disorder that primarily affects the peripheral and autonomic nervous systems and usually becomes symptomatic in the third or fourth decade. Because of the confusion with other genetically transmitted neurologic conditions, the diagnosis is often delayed until advanced stages. We describe a new German kinship with FAP in which the disorder was detected in two asymptomatic family members who were seeking genetic counseling.
Amyloid goiter is a rare clinical entity. The diagnosis is rarely made preoperatively because clinical and laboratory findings are nonspecific. We report two cases of amyloid goiter in whom the diagnosis was made preoperatively using Tc-99m pyrophosphate scintigraphy.
The liver is a major site of amyloid deposition. The spectrum of histopathologic changes in the liver was studied in 38 patients with systemic amyloidosis (25 with primary or myeloma-associated amyloidosis [AL] and 13 with secondary, reactive [AA] amyloidosis). Overall architectural distortion, alterations of portal triads, as well as predilection for topographic deposition in the parenchyma and/or blood vessel walls were noted. Significant histopathologic differences in AL or AA amyloid liver involvement included 1) portal fibrosis, seen in 7 of 25 (28%) AL patients and 8 of 13 (62%) AA patients (P = 0.05), 2) parenchymal amyloid deposition in 25 of 25 (100%) AL amyloid and 10 of 13 (77%) AA amyloid patients (P = 0.04), and 3) vascular amyloid deposition found in 17 of 25 (68%) with AL amyloid and 13 of 13 (100%) patients with AA amyloid (P = 0.02). These data vary from the widely held concept that deposition of amyloid is predominantly vascular in the AL form and parenchymal in amyloid AA. Clearly, however, in individual cases significant overlap occurred, and characterization of amyloid types based on morphologic distribution of amyloid deposits may be possible in only a minority of cases. In most cases, differentiation of amyloid AL and amyloid AA forms requires clinical, histochemical, immunochemical, and sometimes more elaborate laboratory amino acid sequence studies for accurate identification.
The records of 19 patients receiving corticosteroid therapy for temporal arteritis were reviewed. Of 11 patients (58%) who suffered major corticosteroid related complications (group A), four died. Eight patients (group B) remained free of serious corticosteroid related complications. The average daily maintenance prednisone dose was 26.3 mg in group A and 13 mg in group B. Although all disease recrudescenses in both groups were treated by increasing the corticosteroid dose, a slower tapering of the dose to the pre-flare level was observed in group A. These findings emphasize the necessity of keeping the maintenance corticosteroid dose in patients with temporal arteritis at the lowest level consistent with suppression of disease activity.
Focal or generalized hemorrhage is a commonly encountered clinical problem in patients with amyloidosis. In 100 patients with amyloidosis, 41 patients experienced one or more bleeding episodes: petechiae and ecchymoses (23), gastrointestinal tract bleeding (18), bleeding after a diagnostic procedure (eight), hematuria (three), hemoptysis (two), and miscellaneous (four). Severe hemorrhage was the cause of death in three patients. Bleeding occurred frequently in the absence of abnormalities of clotting tests, suggesting that hemorrhage in amyloidosis is most often due to amyloid infiltration of blood vessels. In this group of patients, an isolated factor X deficiency was not observed.