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Porphyria-A rare association in pregnancy

Author: 
Dr. Ragini Mehrotra, Dr. Jaya Patel and Dr. Nirendra Rai
Subject Area: 
Health Sciences
Abstract: 

Acute intermittent porphyria is an unusual pathology with potentially severe consequences when not detectedearly. The porphyrias are a heterogeneous group of rare, primarily hereditary, metabolic diseases caused by a partial deficiency in one of the eight enzymes involved in the hemebiosynthesis, that can lead to severe disease that requires early diagnosis to avoid complications. The frequency of the disease is low and its association with pregnancy unusual, but it is a good time for patients carrying develop the disease or suffer an exacerbation of the same, hence the vital importance of prophylaxis of the risk factors. Despite the fact that pregnancy in women suffering from AIP has to higher rates of morbidity and complications, close management throughout the pregnancy could ensure a good outcome. Since practitioners rarely encounter this disease process, it is commonly not considered in the differential diagnoses. AIP can be confused with other causes of acute abdominal disorders such as appendicitis with peritonitis or nephrolithiasis. Here we are discussing the case of a 24 years old pregnant women with Acute intermittent porphyria its consequences and poor obstetrics outcome.

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