Unexpected presentation of acute porphyria

Acute porphyrias are rarely reported in Southeast Asia. They may be underdiagnosed due to their clinical mimicry and lack of awareness among physicians. There is a common cognitive bias to gravitate towards common conditions. In this case report, a 28-year-old woman, who presented with seizures, rhabdomyolysis hyponatraemia and altered mental state, was initially diagnosed as amphetamine overdose. She had presented 3 days prior with abdominal pain, treated for acute cystitis and discharged. On readmission for seizures a day later, she was extensively worked up for altered mental state. Despite normalisation of serum sodium concentration and control of her seizures, she remained unwell. Further investigations later confirmed a diagnosis of acute porphyria. The aim of this case report is to highlight the non-specific nature of presentation of acute porphyria and the importance of considering it as a differential diagnosis in cases of abdominal pain with neuropsychiatric features.

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.

Acute Neurological Manifestations of Porphyrias and its Types: A Systematic-Review

: Acute porphyrias cause life-threatening attacks of neurovisceral non-specific symptoms, so this condition mimics many acute medical and psychiatric diseases. The disease is very misdiagnosed, probably due to its low incidence and nonpathognomonic symptoms, this delays the effective treatment onset. Early diagnosis and treatment improve highly the prognosis and can prevent the development of neuropathic manifestations. We assembled a systematic review, following the PRISMA guidelines and using Pubmed as our database. Our aim is to show some peculiarities among patients that present neurological manifestations in acute porphyria attack. We have obtained the patients age, sex, clinical presentation, neurological manifestations and porphyria type out of 16 patients. We also evaluated the time between symptoms onset and neurological manifestations. The average age was 28,4 ± 11,1; 50% of patients were male. AIP was the most prevalent porphyria type. The average time between symptoms onset and neurological manifestations was of 9,53 ± 11,6 days. Abdominal pain; nausea and vomiting and psychiatric manifestations were the most common symptoms preceding neurological attacks. Seizures and consciousness disturbance were the most prevalent findings within an attack. We are also presenting a case to illustrate how difficult this diagnosis can be.

The porphyrias

The porphyrias are a remarkable family of metabolic disorders characterized biochemically by overproduction of haem precursors, principally in the liver and bone marrow. The acute porphyrias are inborn errors of varying penetrance that affect enzymatic steps in a tightly regulated biosynthetic pathway for haem; nonacute acquired forms also occur in genetically predisposed individuals. Clinical presentation of acute porphyria—life-threatening neurovisceral attacks occur in four of the porphyrias: acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and Doss’ porphyria (5-aminolaevulinate dehydratase deficiency). These present with abdominal pain, psychiatric symptoms, and signs of sympathetic and hypothalamic autonomic overactivity, sometimes accompanied by convulsions and motor and sensory deficits. Diagnosis of acute porphyria—this is key to survival of an acute attack of porphyria, which can be suspected on the basis of the past history, in particular of photosensitivity or the intermittent discoloration of urine, and family history, and is confirmed by finding excess water-soluble haem precursors in urine. Management of acute porphyria—treatment of an acute porphyric attack mandates immediate withdrawal of inappropriate drugs and other precipitating factors; infusions of haem arginate or other licensed preparations of haem shorten life-threatening episodes and may be effective prophylaxis for recurrent porphyria in women with periodic attacks. The nonacute porphyrias are photosensitivity syndromes caused by excess photoactive macrocyclic porphyrins triggered especially by visible light in the blue–violet range. In the most severe form, manifestations are of severe blistering lesions on sun-exposed skin, particularly of the hands and face, with the formation of vesicles and bullae that may become infected. Healing may lead to loss of digits, scarring of the eyelids, nose, lips, and scalp, and occasionally blindness due to corneal scarring.