Organic disease differential diagnosis

Differential diagnosis of graft-versus-host disease currently depends on organ biopsy to distinguish it from other common complications associated with transplantation. As a means of avoiding repeated biopsies, one group analyzed the urine of patients after hematopoietic stem cell transplantation... 

Thrombotic thrombocytopenic purpura is a rare acute or subacute disease in adults, rather similar to the hemolytic uremic syndrome in children, in which there is systemic malaise, fever, skin purpura, renal failure, hematuria and proteinuria. Hemorrhagic infarcts caused by platelet microthrombi occur in many organs in the brain they may cause stroke-like episodes (Matijevic and Wu 2006) although more commonly there is global encephalopathy. The blood film shows thrombocytopenia, hemolytic anemia and fragmented red cells. The differential diagnosis includes infective endocarditis, idiopathic thrombocytopenia, heparin-induced thrombocytopenia with thrombosis, systemic lupus erythematosus, non-bacterial thrombotic endocarditis and disseminated intravascular coagulation. 

The sum total of endocrine disturbances which we have described constitute a clinical picture which is very similar to that observed in panhypopituitarism due to organic disease of this gland. In this respect it is interesting to point out that the similarity has been so apparent that many textbooks and articles include a paragraph in which norms are given for the differential diagnosis between organic lesions of the pituitary and malnutrition (Escamilla and Lisser, 1942 Perkins and Rynearson, 1952). 

Note that MS/MS is unable to distinguish between isomeric acylcarnitines. Therefore, elevations of C4 can be either from accumulation of butyr-yl or isobutyryl carnitine, C5 can be either isovaleryl or 2-methylbutyryl and so on. Some individual metabolites are characteristic of more that one disease. Propionylcarnitine is markedly elevated in both propionic and methylmalonic acidemia. 3-Hydroxyisovalerylcarnitine (OH-C5) is associated with both 3-MCC deficiency and HMG-CoA-lyase deficiency. Minor elevations in either or both of these metabolites are also consistent with ho-locarboxylase deficiency or with deficiency of the cofactor biotin (or bioti-nidase). The differential diagnosis of each of these conditions is generally made from a careful analysis of urinary organic acids, performed by capillary column GC/MS in a reputable facility. This is especially important in the follow-up of abnormal newborn screening acylcarnitine results. 

The cause of autoimmune hepatitis (AIH) is unknown. Autoimmune reactions lead to a chronic (rarely acute) inflammatory process (periportal piecemeal necrosis, infiltration of portal zones). AIH is frequently associated with autoimmune diseases of other organs. It occurs predominantly among women, particularly in younger years. Hypergammaglobulinaemia is invariably in evidence. Various autoantibodies to components of the liver parenchyma are found. The presence and specificity of these antibodies, together with the respective clinical symptoms, facilitate differentiation between the various subtypes of AIH. Diagnosis is substantiated by the response to immunosuppressive therapy. If left untreated, AIH progresses rapidly with transition to cirrhosis and/or liver failure. If treated adequately, the course taken by the disease is favourable. 

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