Effect of Menstrual Cycle on Acute Intermittent Porphyria

Abstract

A 16-year-old female who was attended as an outpatient reported localized, acute abdominal pain with vomiting, symmetrical motor weakness, and burning sensation in both arms and legs. Her medical history showed irrational behavior, repeated admissions at the emergency units of many other reference hospitals, where she had been investigated for celiac disease and treated with analgesics for pain events. Her clinical condition remained unchanged despite the use of many oral analgesics. In those admissions, she showed dysautonomia, vomiting, and abdominal pain. Diagnosis investigation disclosed a notable serum hyponatremia (133.7 mEq/L). She was referred for endoscopy and the histopathological lesion of the antrum in the stomach did not show neoplastic lesions. Colonoscopy, pelvic magnetic resonance imaging (MRI), total abdominal computed tomography, and video laparoscopy were without significant abnormalities. Suspicion of acute intermittent porphyria was confirmed by quantitative urine porphobilinogen-level tests and genetic analysis. Patient was successfully treated with intravenous infusion of glucose and hemin therapy.

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

“…AHPs are typically recognized by acute neurovisceral attacks ( Figure 2) with systemic and neuropsychiatric signs and symptoms (Table 1), including: (i) autonomic disturbances (i.e. gastrointestinal dysmotility, acute abdominal pain, fever, sweating disorders, tachycardia, cardiac arrhythmia, postural hypotension, or arterial hypertension); (ii) acute neuropathic involvement (i.e., acute motor axonal neuropathy; cranial neuropathy with involvement mainly of the third, sixth, ninth, and tenth cranial nerves; neuropathic pain and acute respiratory failure with diaphragmatic paresis); (iii) metabolic disturbances (i.e., mildly abnormal liver tests and hyponatremia due to syndrome of inappropriate antidiuretic hormone secretion); and (iv) acute neuropsychiatric disturbances or other central nervous system (CNS) involvement (i.e., acute encephalopathy, posterior reversible encephalopathy syndrome, seizures, status epilepticus, cerebral vasospasm and vasoconstriction, acute psychosis, and abnormal circadian rhythm with insomnia) 1,2,3,4,9,13,14,15,19,20,21 .…”

“…Atypical presentations include pure dysautonomia, CNS involvement, and late-onset pure neuropsychiatric disturbances. Other psychiatric contexts may also be found, including catatonia, delusions, mood and behavioral changes, visual and auditory hallucinations, paranoid psychosis, or late-onset personality disorders 1,2,3,4,9,13,14,15,19,20,21 .…”

“…An important evaluation issue during acute episodes in recurrent attacks is the presence of perimenstrual symptoms in women of childbearing age. In women with recurrent attacks related to the perimenstrual period, long-acting agonists of luteinizing hormone-releasing hormone (LH-RH) or gonadotropin-releasing hormone (GnRH, gonadorelin analogs) receptors are indicated and can suppress the estrogen effects in heme biosynthesis 4,21,53 . Liver transplantation in AHPs has been studied by different metabolic centers.…”

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria

“…Some triggers increase the demand for heme in the liver which de-represses the transcription of ALAS1 thereafter (Ajioka et al, 2006). Others, like hormones estrogen and progesterone, increase the activity of ALA synthase ( Figure 1IV ), which partially explains why AIP often attacks during the luteal phase of the menstrual cycle (Junior et al, 2017). Up to now, the identified factors that induce the attacks include alcohol, smoking, nutritional factors, hormonal factors, and the usage of drugs etc.…”

Challenges in the management of acute intermittent porphyria with recurrent attacks during pregnancy: A case report

“…Women are far more likely than men to have clinical manifestations of the disease, and they are usually more seriously affected 3,4 . Symptoms are associated with endogenous or exogenous fluctuations in progesterone levels—intake of contraceptives, pregnancy, during the luteal phase of their menstrual cycle, when progesterone levels are increased 3 …”