Diagnosis
In acute cases, with a large amount of blood loss, patients may present with anemia or low blood pressure. However, aside from the melena itself, many patients may present with few symptoms. Often, the first approach is to use endoscopy to look for obvious signs of a bleed. In cases where the source of the bleed is unclear, but melena is present, an upper endoscopy is recommended, to try to ascertain the source of the bleed.Lower gastrointestinal bleeding sources usually present with hematochezia or frank blood. A test with poor sensitivity/specificity that may detect the source of bleeding is the tagged red blood cell scan. This is especially used for slow bleeding (<0.5 ml/min). However, for rapid bleeding (>0.5 ml/min), mesenteric angiogram ± embolization is the gold standard. Colonoscopy is often first line, however. Melena versus hematochezia
Bleeds that originate from the lower gastrointestinal tract (such as the sigmoid colon and rectum) are generally associated with the passage of bright red blood, or hematochezia, particularly when brisk. Only blood that originates from a more proximal source (such as the small intestine), or bleeding from a lower source that occurs slowly enough to allow for enzymatic breakdown, is associated with melena. For this reason, melena is often associated with blood in the stomach or duodenum (upper gastrointestinal bleeding), for example by a peptic ulcer.
Hawkinsinuria is an autosomal dominant metabolic disorder affecting the metabolism of tyrosine.Normally, the breakdown of the amino acid tyrosine involves the conversion of 4-hydroxyphenylpyruvate to homogentisate by 4-hydroxyphenylpyruvate dioxygenase. Complete deficiency of this enzyme would lead to tyrosinemia III. In rare cases, however, the enzyme is still able to produce the reactive intermediate 1,2-epoxyphenyl acetic acid, but is unable to convert this intermediate to homogentisate. The intermediate then spontaneously reacts with glutathione to form 2-L-cystein-S-yl-1,4-dihydroxy-cyclohex-5-en-1-yl acetic acid (hawkinsin).Patients present with metabolic acidosis during the first year of life, and growth arrest around the time of weaning off breast milk. Treatment involves a diet containing a low amount of phenylalanine and tyrosine. Tolerance toward these amino acids normalizes as the patients get older. Then only a chlorine-like smell of the urine indicates the presence of the condition. Patients have a normal life and do not require treatment or a special diet.The production of hawkinsin is the result of a gain-of-function mutation. Inheritance of hawkinsinuria is therefore autosomal dominant (presence of a single mutated copy of the gene causes the condition). The gene affected is the HPD gene encoding 4-hydroxyphenylpyruvic acid dioxygenase, on chromosome 12q24. It is unusual in that most other inborn errors of metabolism are caused by loss-of-function mutations, and hence have recessive inheritance (condition occurs only if both copies are mutated). See also
4-Hydroxyphenylpyruvate dioxygenase

References


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