Neurological Manifestations of Acute Porphyrias

Wylie, Kyle; Testai, Fernando D.

doi:10.1007/s11910-022-01205-7

Cited by 13 publications

(18 citation statements)

References 38 publications

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“…Renal involvement in acute porphyrias includes hyponatremia, urinary retention, tubule-interstitial nephropathy, hypertension, and chronic kidney disease. Most patients suffer from renal colic associated with pallor, nausea, vomiting, fever, acute urine retention and dark urine [4][5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report

Guida¹,

Nardella²,

Fiorentino³

et al. 2023

Preprint

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Porphyrias are human metabolic diseases characterized by different modes of inheritance and clinical manifestations and caused by deficiency of enzymes of the heme biosynthetic pathway. The forms of porphyria are characterized by elevated levels of δ-aminolevulinic acid and porphobilinogen. Acute hepatic porphyrias are a subgroup of porphyrias characterized by the appearance of neurovisceral attacks with or without cutaneous signs. Acute hepatic porphyrias include four diseases: acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and hereditary δ-aminolevulinic acid dehydratase deficiency. These enzymatic deficiencies cause a harmful accumulation of porphyrins in the liver and bone marrow that trigger a wide range of signs and symptoms. Patients suffering from different forms of acute hepatic porphyria present a high risk of liver cancer, precisely hepatocellular carcinoma and cholangiocarcinoma, determined by the activity of the disease even though an exact mechanism of carcinogenesis has not been recognized yet. Here, we present the clinical case of a 72 year old woman who, approximately 29 years after the diagnosis of acute intermittent porphyria, presented with intrahepatic cholangiocarcinoma with histological diagnosis of adenocarcinoma starting from the biliary-pancreatic ducts, which was diagnosed during the clinical and anatomopathological evaluation of a pathological fracture of the femur.

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Section: Introductionmentioning

confidence: 99%

Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report

Guida¹,

Nardella²,

Fiorentino³

et al. 2023

Preprint

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show abstract

“…ALA and PBG accumulate during overt crises, which manifests with neuro-visceral symptoms intensified by some drugs, hormones, and nutritional changes. AIP treatment relies on intravenous injection of ferric chloride salt of heme (hemin) or carbohydrate loading for mild attacks or when hemin is unobtainable [ 7 , 8 ]. In general, porphyrias are inherited diseases, while porphyria cutanea is caused by an acquired enzymatic deficiency in liver, although an inherited deficiency is a predisposing factor in some cases (Yasuda 2018) [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway

et al. 2022

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Heme is a member of the porphyrins family of cyclic tetrapyrroles and influences various cell processes and signalling pathways. Enzyme deficiencies in the heme biosynthetic pathway provoke rare human inherited metabolic diseases called porphyrias. Protein levels and activity of enzymes involved in the heme biosynthetic pathway and especially 5′-Aminolevulinate Synthase 1 are featured by 24-h rhythmic oscillations driven by the biological clock. Heme biosynthesis and circadian pathways intermingle with mutual modulatory roles. Notably, heme is a ligand of important cogs of the molecular clockwork, which upon heme binding recruit co-repressors and inhibit the transcription of numerous genes enriching metabolic pathways and encoding functional proteins bringing on crucial cell processes. Herein, we assessed mRNA levels of circadian genes in patients suffering from porphyrias and found several modifications of core clock genes and clock-controlled genes expression, associated with metabolic and electrolytic changes. Overall, our results show an altered expression of circadian genes accompanying heme biosynthesis disorders and confirm the need to deepen the knowledge of the mechanisms through which the alteration of the circadian clock circuitry could take part in determining signs and symptoms of porphyria patients and then again could represent a target for innovative therapeutic strategies.

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“…Porphyrias consist of nine genetic disorders, acquired or congenital, resulting from failures in the biosynthesis process of the heme group, resulting in the accumulation of metabolic intermediates in the human body, causing toxicity [1]. The heme group is indispensable for the performance of oxidation-reduction reactions, in addition to being essential for the functionality of several enzymes and proteins related to energy metabolism.…”

Section: Introductionmentioning

confidence: 99%

“…In most countries, such as the United States, a genetic prevalence of porphyria is estimated in the order of 1/10.000 individuals, while the manifestation of the aforementioned disease, in the USA, is approximately 5/100.000 inhabitants, with no indication of seasonal predominance in the incidence of porphyria [6]. Patients affected by this condition may present, as symptoms, neurological dysfunctions (neuropathies, alternations in the level of consciousness, seizures and behavioral abnormalities), neurovisceral alterations (gastrointestinal symptoms) and cutaneous manifestations (cutaneous photosensitivity and hemolysis) [1].…”

Section: Introductionmentioning

confidence: 99%

Use of intrathecal drug infusion pump with combined morphine and bupivacaine medication for the treatment of abdominal pain due to Acute Intermittent Porphyria (AIP)

Oliveira¹,

Souza²,

Andrade³

et al. 2022

BJCR

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Porphyrias consist of nine genetic disorders, acquired or congenital, resulting from failures in the biosynthesis process of the heme group, resulting in the accumulation of metabolic intermediates in the human body, causing toxicity. We describe a case of a 32-years-old Woman presented with severe and continual abdominal pain, presenting a visual analog scale (VAS) score of 9-10, described by the patient as the worst pain she has ever felt in her life, colic type in the mesogastric area and that radiated throughout the entire abdomen for six months. Due to the presented condition, she underwent appendectomy and cholecystectomy procedures, being later diagnosed with acute intermittent porphyria (AIP). It is important to highlight that some manifestations resulting from AIP are similar to Acute Abdomen. This is a clinical condition characterized by sudden or progressive abdominal pain, which usually requires an emergency surgical procedure to resolve the condition. The diagnosis of AIP is quite complex, and it can easily cause misdiagnoses, as in the present case report, in which the patient was mistakenly submitted to appendectomy and cholecystectomy procedures, due to the symptom of severe abdominal pain, which could lead to exposure her to iatrogenic damage.

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Neurological Manifestations of Acute Porphyrias

Cited by 13 publications

References 38 publications

Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report

Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report

Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway

Use of intrathecal drug infusion pump with combined morphine and bupivacaine medication for the treatment of abdominal pain due to Acute Intermittent Porphyria (AIP)

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