Motor paresis or poor respiratory effort may be present. [ncbi.nlm.nih.gov]

The clinical presentations of porphyric neuropathy range from mild focal neuropathy to more severe presentations with a Guillain-Barré-like picture [ 3, 6, 11 ]. Here, we report 3 cases of porphyria with differing neurological presentations. [karger.com]

In this issue of the SAMJ, an atypical neurological presentation of AIP in a young man is described. [16] Two points are of particular interest. [scielo.org.za]

If PBG excretion is normal when symptoms are present, the symptoms are very unlikely to be caused by porphyria. [clinchem.aaccjnls.org]

Acute hepatic porphyrias (AHPs) can present as episodes of acute porphyria with abdominal pain, autonomic dysfunction (hypertension, tachycardia, and gastrointestinal disorders), and deep motor neuropathy. [revespcardiol.org]

• Intravenous Administration

  She had an acute attack during gestation and required intravenous administration of haem. The child was delivered by emergency C-section due to IUGR and maternal preeclampsia at 36 weeks gestation. [analesdepediatria.org]

  Administration of intravenous glucose of up to 400 g/d has been shown to dramatically improve symptoms. [mjdrdypu.org]

• Palpitations

  […] vomiting Muscle pain, tingling, numbness, weakness or paralysis Red or brown urine Mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia Breathing problems Urination problems Rapid or irregular heartbeats you can feel (palpitations [mayoclinic.org]

  Acute attacks, typically consist of severe abdominal pain, nausea, constipation, palpitations, sweating, confusion, and other neurological manifestations such as peripheral neuropathy, seizures, and paresis, tachycardia and hypertension. [1] [2] [5]. [ncbi.nlm.nih.gov]

  Other symptoms may include: vomiting constipation pain in the back, arms and legs muscle weakness (due to effects on nerves supplying the muscles) urinary retention palpitations (due to a rapid heart rate and often accompanied by increased blood pressure [porphyriafoundation.org]

  93 Blisters 96 Burning/stinging pain 96 Fatigue 72 Fragile skin 86 Red/swollen skin 86 Dark/reddish urine 64 Dark/reddish urine 55 Sores/crusting 50 Muscular pain 63 Abnormal hair growth 33 Blisters 32 Muscular weakness 59 Increased pigmentation 30 Palpitations [tidsskriftet.no]

  Common Symptoms and Signs of AHPs in Subjects With Clinically Active Disease Symptoms Signs Pain Systemic arterial hypertension (43%) Abdominal (74%) Chronic kidney disease (29%) Back (56%) Palpitations/tachycardia (19%) Chest (58%) Hyponatremia (20%) [aasldpubs.onlinelibrary.wiley.com]

• Hypertrichosis

  […] erythropoietic porphyria (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating lesions, hemolytic anemia, splenomegaly, excessive urinary excretion of uroporphyrin and coproporphyrin, and invariably erythrodontia and hypertrichosis [medical-dictionary.thefreedictionary.com]

  HIV Estrogen therapy Sunlight exposure Pathophysiology Clinical findings Cutaneous manifestations Increased fragility of sun-exposed skin → blistering and impaired healing ( blistering photosensitivity ) Healing results in scarring and milia formation Hypertrichosis [amboss.com]

  Over time, in CEP, HEP and PCT scarring, pigment changes, infection, and excessive hair growth (hypertrichosis) can occur. [aasldpubs.onlinelibrary.wiley.com]

  Skin thickening, focal hypopigmentation and hyperpigmentation, and hypertrichosis of the face and extremities are characteristic. Secondary infection and bone resorption may lead to disfigurement of the face and hands. [bloodjournal.org]

  […] autonomic instability (hypertension, tachycardia, abdominal pain, nausea, vomiting, and constipation), dehydration and electrolyte imbalance (hyponatremia, hypokalemia, and hypocalcemia), and dermatologic features (photosensitivity, skin fragility, hypertrichosis [ajp.psychiatryonline.org]

• Hirsutism

  Severe scarring is rare, as are pigment changes, friability, and hirsutism. Hemolysis and anemia are usually absent or mild. [bloodjournal.org]

The laboratory workup showed normal kidney function, GOT, 41 U/L; GPT, 43 U/L; alkaline phosphatase, 50 IU/L; GGT, 50 IU/L; LDH, 539 IU/L; sodium, 111 mEq/L; and plasma osmolarity, 231 mOsm/L. [revespcardiol.org]

Urinary porphyrins should have been sent as part of the initial workup and interpreted along with other second-line tests. [cancertherapyadvisor.com]

Workup and Diagnosis Most routine investigations may offer information but are not helpful in making a diagnosis, including a diagnosis of porphyria (1). [ajp.psychiatryonline.org]

Details are available from the APF or investigators of the national Porphyria Consortium https://www.rarediseasesnetwork.org/cms/porphyrias Clinical Testing and Workup: Screening tests to measure the levels of the porphyrin precursor porphobilinogen [porphyriafoundation.org]

• Hyponatremia

  The hyponatremia and elevation of creatine kinase was gradually corrected [Table 1]. [mjdrdypu.org]

  Hyponatremia Hyponatremia is a relatively common metabolic manifestation accompanying acute attack. It is usually mild and easily corrected. [signavitae.com]

  Hyponatremia may reflect inappropriate antidiuretic hormone secretion. Gastrointestinal or renal sodium loss may contribute. [porphyriafoundation.org]

  The patient was admitted to the intensive care unit (ICU) for treatment of hyponatremia. Her mother’s history led us to suspect porphyria, so we sent a urine sample from the ED for porphobilinogen (PBG) testing. [mdedge.com]

  It should be considered in a patient with recurrent abdominal symptoms, intractable hyponatremia, along with neurological manifestations. Early diagnosis can prevent recurrent episodes and can be potentially lifesaving. [tandfonline.com]

Removal of precipitating factors, treatment of underlying infection, a carbohydrate diet and intravenous (i.v) heme remains mainstay of treatment of an acute attack. [joacp.org]

If the analysis of PBG in 24-h urine cannot be available or will result later, the clinician should start hematin treatment for AIP. AIP is a medical emergency and delay in treatment may contribute to serious or even fatal outcomes. [mjdrdypu.org]

Supportive and Symptomatic Treatment: Harmful drugs should be stopped immediately and avoided during treatment. For example, metoclopramide should not be given. [porphyriafoundation.org]

Standard Therapies Treatment The treatment of AIP is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

What is the prognosis? Several decades ago the mortality rate for AIP attacks was upwards of 25%. [first10em.com]

It is hoped that this will stimulate more interest in the subject, in order that the diagnosis may be made early and treatment instituted promptly with the expectation of improving the prognosis. [annals.org]

Prognosis Several decades ago the prognosis for acute porphyria with neurological complications was poor, with a reported mortality of 35%. The prognosis remains guarded for those that present with acute porphyria. [ncbi.nlm.nih.gov]

Prognosis In certain patients attacks recur, resulting in the need for repeated and more frequent injections of human hemin. Crippling attacks can possibly indicate the need for a hepatic transplant. [orpha.net]

The prognosis of AIP is usually good if the disorder is recognized before severe nerve damage has occurred and if treatment and preventive measures are begun. [porphyriafoundation.org]

Etiology Acute intermittent porphyria is caused by a deficiency of porphobilinogen deaminase (PBG-D; the third enzyme in the heme biosynthesis pathway) that leads to an accumulation of the precursors of porphyrins in the liver (delta-aminolevulinic acid [orpha.net]

Therapy Avoid susceptibility factors and excessive sunlight Phlebotomy Hydroxychloroquine or chloroquine References: [1] [2] [3] Acute intermittent porphyria (AIP) Epidemiology Second most common porphyria Peak incidence : ∼ 30 years Sex: ♀ > ♂ (2:1) Etiology [amboss.com]

Etiology Acute porphyrias are inherited conditions however environmental, e.g., drugs and physiological factors are crucial for clinical manifestation. Epidemiology The autosomal dominant acute porphyrias affect males and females equally. [ncbi.nlm.nih.gov]

Recently, new insight into the etiology of the acute attacks came from several patients with AIP and VP who had chronic attacks that ceased after liver transplantation. 16, 17 Of note, “domino” transplantation of the “porphyric livers” into recipients [bloodjournal.org]

In the present case, the diagnosis was entertained because of the following: 1) the etiologically obscure neurosis or psychosis after an extensive workup, 2) unexplained peripheral neuropathy, 3) indeterminate neurologic spells, 4) hyponatremia of unknown [ajp.psychiatryonline.org]

[…] uroporphyrin ( tea-colored urine ) Blood tests: ↑ porphyrins, possibly abnormal LFTs Therapy Avoid susceptibility factors and excessive sunlight Phlebotomy Hydroxychloroquine or chloroquine References: [1] [2] [3] Acute intermittent porphyria (AIP) Epidemiology [amboss.com]

Acute intermittent porphyria is the most common form of porphyria. (4-8) EPIDEMIOLOGY Acute intermittent porphyria has a prevalence of 1-2 cases per 100 thousand inhabitants. [scielo.br]

Epidemiology The autosomal dominant acute porphyrias affect males and females equally. [ncbi.nlm.nih.gov]

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 1997 ; 60 : 1373 -1383. ↵ Whatley SD, Puy H, Morgan RR, Robreau A-M, Roberts AG, Nordmann Y, et al. [clinchem.aaccjnls.org]

Epidemiology The overall prevalence of acute porphyrias in European countries is 1–2 in 100 000, 3 with AIP being the most common. [academic.oup.com]

Stress (e.g., surgery, infection) Pathophysiology : defective PBG-D → accumulation of porphobilinogen ( PBG ) and δ-aminolevulinic acid ( ALA ) → symptoms Clinical features Fever GI symptoms : severe abdominal pain, nausea, vomiting Neurological abnormalities [amboss.com]

The prevalence of AIP has been estimated to be 5-10 cases per 100,000. [3] Pathophysiology Heme is a 64 kDa tetrameric protein present in hemoglobin, myoglobin, respiratory cytochromes and cytochrome P450 enzymes. [1] The heme biosynthetic pathway involves [ncbi.nlm.nih.gov]

The article provides a brief description of heme biosynthesis and the pathophysiology that underlie an acute attack. [cancertherapyadvisor.com]

In this article, the author discusses the history, clinical features, pathophysiology, classification, and treatment of porphyria. [medlink.com]

These lesions show restricted diffusion in diffusion sequences, which is more typical of cytotoxic oedema than of vasogenic oedema. 14 The pathophysiology of PRES is not well known. [elsevier.es]

Hormone manipulation may be effective in preventing such attacks and some affected women have been treated with gonadotropin-releasing hormone analogues (GnRH or LHRH treatments such as Lupron) to suppress ovulation and prevent frequent, cyclic attacks [porphyriafoundation.org]

Porphyria prevents your body from creating enough enzymes to control the process, and porphyrin builds up. High levels of porphyrin can cause problems throughout your body, depending on where it builds up. [drugs.com]

"It also has a lasting effect of at least one month, which gives us an effective means of preventing acute attacks in seriously afflicted porphyria patients who have limited treatment options." [medicalxpress.com]

Duque-Serrano L...Molano-Eslava JC 2018 4 Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria. ( 29855177 ) Lang A...Stepp H 2018 5 An Audit of the Use of Gonadorelin Analogues to Prevent [malacards.org]