Liver disease clinical manifestations

Antifibrinolytics, such as aminocaproic acid, have been used in patients in whom the dominant clinical picture is one of excessive fibrinolysis. Because aminocaproic acid can increase fibrin deposition, many experts believe that it is usually contraindicated. In patients with chronic liver disease who manifest dominant fibrinolysis, attempts to inhibit the fibrinolytic system have generally been unsuccessful. Patients with APML may benefit from an antifibrinolytic, as hyperfibrinolysis is the dominant clinical feature of their condition. Tranexamic acid and aminocaproic acid have shown benefits in patients with APML. ... 

Defects of complex IV. These disorders, also termed COX deficiency, have clinical phenotypes that fall into two main groups one in which myopathy is the predominant or exclusive manifestation and another in which brain dysfunction predominates (Fig. 42-3). In the first group, the most common disorder is fatal infantile myopathy, causing generalized weakness, respiratory insufficiency and death before age 1 year. There is lactic acidosis and renal dysfunction, with glycosuria, phosphaturia and aminoaciduria, also termed DeToni-Fanconi-Debre syndrome. The association of myopathy and cardiopathy in the same patient and myopathy and liver disease in the same family has also been described [14]. 

The patient s history strongly suggested a systemic disease based on the multisystem involvement (liver, heart, and skeletal muscle). The unknown disease in the patient s brother suggested the possibility of an inherited disease.The recurrent episodes of hypoglycemia suggested a metabolic basis for the clinical manifestations. 

The acute or acute recurrent form can be equated with the manifestation of portosystemic encephalopathy in chronic liver disease. It is also known as acute episodic form . Discrete psychometric disorders usually precede the manifest picture as a latent stage. Manifestation includes stages I-IV and hence covers a wide spectrum of clinical, neurological and psychopathological symptoms. Once the liver function is stabilized and the trigger factors are eliminated, all the symptoms of this form are as a rule reversible. 

Predisposition The additional liver damage caused by the accumulation of urocarboxyporphyrins (UCP) and heptacarboxyporphyrins (HCP) in hepatic tissue is a prerequisite for clinically manifest PCT. Several forms of liver disease increase susceptibility to PCT, e. g. viral hepatitis B, and more particularly type C (286, 287, 302, 309), fibrosis, siderosis, cirrhosis, alcohol-induced liver... 

Blich, M., Edoute, Y. Clinical manifestations of sarcoid liver disease. X Gastroenterol. Hepatol. 2004 19 732-737... 

The major clinical manifestation of AAT deficiency is emphysema, which tends to occur at an earlier age and can occur in the absence of smoking. It is estimated that 1% of emphysema is related to AAT deficiency. In neonates, AAT deficiency is often associated with hepatitis in one study, almost one third of infants with prolonged jaundice were found to be AAT deficient. About 20% of AAT deficient infants develop hepatitis, with up to 25% 1-year mortality. In those who survive the first year, however, evidence of liver injury diminishes and usually resolves by age 12. At age 18, none of 183 individuals with AAT deficiency had clinical evidence of liver disease, none had elevated procollagen III peptide, and less than 20% had elevated liver-associated enzymes. These findings suggest that AAT may have minimal effects on pathogenesis of liver disease in adults." ... 

Hyperammonemia resulting from any of the enzymatic disorders of the biosynthesis of urea, must be distinguished from other conditions in which plasma ammonia is raised, sometimes sufficiently so to cause clinical manifestation. Severe liver disease as a primary cause of acquired hyperammonemia may be excluded from consideration since it is readily distinguishable from urea cycle defects. However, there are a number of other conditions described with hyperammonia as a prime manifestation, which because they show some clinical and biochemical similarity to hereditary enzyme defects of the urea cycle, have been claimed to be urea cycle disorders. 

Since the seat of predilection of the liver flukes is liver or biliary passage, the clinical manifestations produced by them chiefly relate to liver and gastric problems. The early stage of the infection is marked by epigastric pain, fever and eosinophilia. Later the patient experiences diarrhea, anorexia, prolonged fever and abdominal pain. In chronic cases, the disease may lead to jaundice, cirrhosis of the liver and biliary duct, ascites and cachexia. Sometimes the patient may die of serious liver complications. 

Pyruvate carboxylase deficiency is one of the genetic diseases grouped together under the clinical manifestations of Leigh s disease (subacute necrotizing encephalopathy). In the mild form, the patient presents early in life with delayed development and a mild-to-moderate lactic acidemia. Patients who survive are severely mentally retarded, and there is a loss of cerebral neurons. In the brain, pyruvate carboxylase is present in the astrocytes, which use TCA cycle intermediates to synthesize glutamine. This pathway is essential for neuronal survival. The major cause of the lactic acidemia is that cells dependent on pyruvate carboxylase for an anaplerotic supply of oxaloacetate cannot oxidize pyruvate in the TCA cycle (because of low oxaloacetate levels), and the liver cannot convert pyruvate to glucose (because the pyruvate carboxylase reaction is required for this pathway to occur), so the excess pyruvate is converted to lactate. 

Two types of polycystic liver disease (PLD) have been identified one is related to the autosomal dominant polycystic kidney disease (ADPKD) linked to PKD 1 or PKD 2, while the second form is an isolated form totally unlinked to PKD 1 or PKD 2. Patients with PLD will present liver involvement in approximately 45% of cases (Suchy 2003 Pirson et al. 1996). While ADPKD is usually a disease of adults, about l%-2% of patients display an early manifesting clinical course and may die perinatally. 

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