Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

Abstract

Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen. This disease shows nonspecific signs and symptoms that can be confused with other diseases, thereby making the diagnosis difficult. We report a case of acute intermittent porphyria, reviewing clinical and laboratory aspects, highlighting the hematological and biochemical parameters during and after the crisis. A female patient, aged 28 years, suffered two crises, both presenting gastrointestinal disorders. The second presented neuropsychiatric symptoms. The analysis of hematological and biochemical parameters during the second crisis showed anemia, leukocytosis, hyponatremia, mild hypokalemia, uremia and elevated C-reactive protein. The initial treatment included glucose infusion, a diet rich in carbohydrates and interruption of porphyrinogenic drugs. Subsequently, treatment was maintained with oral contraceptive use. According to the observed data, signs and symptoms of gastrointestinal, neurological and psychiatric disorders, associated with laboratory results presented in this paper can be applied to screen acute porphyria, contributing to early diagnosis.

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

“…Excessive accumulation of ALA and partial activity of heme leads to hypothalamic damage. In AIP patients, anemia, could be caused due to low rate of biosynthesis of heme in erythroid precursor cells from bone marrow ( Dos Santos et al, 2013 ). Proper awareness and genetic screening leads to early recognition and clinical diagnosis of AIP and prompt treatment which is important for clinical management.…”

Nutroterapia na porfiria aguda intermitente: Da UTI ao ambulatório

“…A apresentação usual é um quadro agudo de dor abdominal intensa, difusa, em cólica, às vezes com distensão, diminuição dos ruídos hidroaéreos e defesa, vômitos, constipação, às vezes diarreia, podendo haver febre e leucocitose sem infecção. 5 Não responde a analgésicos usuais, que, quando utilizados, ainda podem piorar a crise. A dor abdominal é o sintoma mais comum da crise, e a confusão diagnóstica do quadro abdominal agudo com obstrução intestinal com sofrimento de alça pode resultar em indicação errônea de cirurgia (laparotomia branca).…”

“…Nos casos recorrentes, as pacientes podem necessitar do uso de anovulatórios hormonais em baixas dosagens, ou, em casos selecionados, bloqueio do ciclo com antagonistas do hormônio liberador de gonadotropina (goserelina), que inibem o hormônio luteinizante (LH). 2,3,5,7 Outra opção é a administração profilática de hematina somente no meio do ciclo (período da ovulação).…”

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“…Sex hormones such as estrogen and progesterone have been previously implicated in the precipitation of acute AIP crises [15,[21][22][23]. Approximately 10-30% of women with porphyria experience cyclical AIP attacks, an association thought to be secondary toprogesterone's induction of ALA synthase, one of the major rate-limiting steps in heme synthesis [18].…”