Idiopathic hemochromatosis: a study in a large Puerto Rican family

We studied 13 first-degree relatives in a large family with an index case of idiopathic hemochromatosis to detect the relatives with evidence of iron overloading. Serum iron, total iron binding capacity (TIBC), and serum ferritin levels were measured in all family members. We also performed HLA typing to identify the relatives who are homozygous with the proband and genetically predisposed to develop the disease. The family was composed of the parents and 12 siblings including the index case. The mean age of the siblings was 25 years. None presented with evidence of iron overload by the iron biochemical tests. HLA typing demonstrated six homozygous siblings with the proband. In separate analysis these siblings did not present abnormalities in any of the iron biochemical tests. These homozygous relatives were followed for one year after initial evaluation and none presented abnormalities in the iron studies during this period. These results are contradictory to other previous studies done in families with idiopathic hemochromatosis. The most feasible explanations for these findings are the young age of these siblings and the predominance of females among them. We consider that these homozygous relatives must be followed for their life-times with iron studies to detect a possible increase in iron stores as expected in later ages

Hepatitis C viral RNA amplification by the polymerase chain reaction allows detection of false positive HCV ELISAs among patients with non-A, non-B hepatitis

Serum from patients which tested positive for hepatitis C virus (HCV) by Enzyme Linked Immunosorbent Assay (ELISA) were analyzed for the presence of HCV RNA by nested Polymerase Chain Reaction (PCR) and for anti-HCV antibodies by Recombinant Immunoblot Assay (RIBA II). Total RNA was extracted from whole blood by a new procedure and subjected to reverse transcription of HCV RNA employing primers to the conserved 5' non-coding region of the HCV genome. PCR performed on these samples uncovered several false positive ELISAs. Reciprocal confirmation between PCR and RIBA II results was observed. These results substantiate this variation of the HCV PCR assay as a reliable alternative for routine confirmation of HCV serological tests

Hepatitis C antibody in health puertorican blood donors: prevalence, hepatic functional and histological abnormalities

The prevalence of hepatitis C antibody by ELISA I in 45797 consecutive Puertorican blood donors was 1.41 percent. 67 of these donors were fully evaluated and 31 underwent liver biopsy. Risk factors for hepatitis C were present in 71.6 percent, and 45 percent had elevated ALT. Of the 31 donors that underwent liver biopsy, 16 had elevated ALT and all had significant histologic abnormalities, while only one with normal ALT had Chronic active hepatitis. RIBA II was performed in 37 and only 20 (54 percent) were positive. Of the 17 RIBA II positive donor that underwent biopsy, 88 percent had evidence of chronic liver disease. Of 530 donors positive for hepatitis C antibody by ELISA in whom RIBA II was performed, 282 were negative, making the percentage of false positives 53.2 percent. We conclude that Puerto Rico has a high rate of hepatitis C infection, and that RIBA II positive and elevated ALT predict the presence of significant liver disease.

Idiopathic hemochromatosis in a young man presenting with palpitations

Un hombre de 32 años presentó con queja de palpitaciones y nivels elevados de hierro sérico. Evaluación posterior reveló elevación de la ferritina en suero, y una biopsia de hígado confirmó el diagnóstico de hemocromatosis. La evaluación cardiovascular fue normal excepto por bradicardia sinusal alternando con taquicardia sinusal en un Holter de 24 horas. El paciente se comenzó en tratamiento con flebotomías semanales y la familia se esta evaluando para detectar tempranamente cualquier otro caso. Las manifestaciones, evaluación diagnóstica e importancia del diagnóstico temprano son enfatizadas

Enfermedad inflamatoria del tracto gastrointestinal en el Hospital Universitario, Centro Médico, Puerto Rico, 1980-87 / Inflammatory disease of gastrointestinal tract in the Hospital Universitario, Centro Médico, Puerto Rico 1980-87

A pesar de ser conocidas la colitis ulcerativa y la enfermedad de Crohn hace mucho tiempo, continúa sin establecerse su etiología, y se dificulta muchas veces distinguir una de la otra. Además sus características dificultan el estudio epidemiológico de la enfermedad. En este trabajo se revisaron 70 expedientes con diagnóstico definitivo de enfermedad de Crohn y colitis ulcerativa y se compararon los resultados con la literatura de otras partes del mundo. Encontramos quem la proporción de colitis ulcerativa a enfermedad de Crohn es alta, 5.4:1, no hubo variación con respecto a los grupos etáreos ni a los síntomas más frecuentes; pero sí hubo variación en los patrones de enfermedad de Crohn, siendo el colónico el más frecuente. También se encontró un porcentaje bajo de manifestaciones extraintestinales. Esto hace pensar en la necesidad de seguir un protocolo adecuado para la evaluación de pacientes con enfermedad inflamatoria del intestino

Incidence of spontaneous bacterial peritonitis in the University Hospital

Twenty three patientes evaluated for ascites in the Gastroenterology Section of the University Hospital between September 1985 and April 1986 were included in the study. Ascitic fluid was tested for pH, cell count and differential, LDH, proteín, amylase, cytology, microbial stains and cultures. Five patients had a clinical picture of spontaneous bacterial peritonitis, but only two had the ediagnosis confirmed by laboratory tests and positive cultures, for an incidence of 8%. The diagnostic value of ascitic fluid parameters is discussed, and the current literature on the subject is reviewed