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Acute Porphyria


Presentation

  • 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]
  • There are eight different porphyrias, which can be grouped into those presenting with acute attacks (acute porphyrias) and those presenting with light-sensitive skin problems (skin porphyrias), although there is some overlap.[pulsetoday.co.uk]
Sepsis
  • However, eventually she developed sepsis requiring high-ionotropic support which precluded further leading to her demise.[joacp.org]
  • Initial investigations Table Other investigations as indicated to assess the acute illness, such as sepsis screen. Table Urine PBG PBG analysis, preferably by a quantitative test, is essential and should be available within 24 h.[journals.sagepub.com]
  • […] these patients have had central venous ports inserted and have been treated with recurrent infusions of intravenous heme, sometimes with disastrous results, such as recurrent infections and/or thrombosis of ports and central veins, thrombophlebitis, sepsis[aasldpubs.onlinelibrary.wiley.com]
  • Infected port/line sepsis. 3. Iron overload with long-term heavy use. By weight, hemin is 9% iron (56 mg iron/650 mg hemin). Narcotic analgesics 1. Development of dependence/addiction. 2. Secondary gain.[cancertherapyadvisor.com]
Pathologist
  • Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication[invitae.com]
Respiratory Distress
  • She was readmitted to the hospital and, within seven days, progressed with choluria, tetraparesis followed by tetraplegia and respiratory distress, requiring admission to the intensive care unit (ICU) and respiratory support.[scielo.br]
  • Furthermore, severe sensory neuropathy may cause severe pain and stiffness, while motor neuropathy can also cause paralysis of the diaphragm intercostal muscles, which may lead to respiratory distress requiring artificial ventilation in some patients.[cancertherapyadvisor.com]
Lower Abdominal Pain
  • Physical exam was otherwise unremarkable, including a benign abdominal exam, despite the patient complaining loudly of severe stabbing lower abdominal pain.[aasldpubs.onlinelibrary.wiley.com]
Palpitations
  • 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]
  • […] 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]
  • 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]
  • 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]
Leg Pain
  • pain is characterized by severe pain and stiffness in back and thighs followed by loss of tendon reflexes and paralysis. [14] Psychiatric symptoms are present, such as paranoid schizophrenia -like features but rarely psychosis and hallucinations. [15[en.wikipedia.org]
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]
  • Over time, in CEP, HEP and PCT scarring, pigment changes, infection, and excessive hair growth (hypertrichosis) can occur.[aasldpubs.onlinelibrary.wiley.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]
  • 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]
Incontinence
  • Neuropathy may progress rapidly to give complete paralysis, incontinence or urinary retention, swallowing difficulties and respiratory failure.[journals.sagepub.com]
Dysarthria
  • Cranial nerve involvement has also been described in AIP, most commonly affecting the facial and vagus nerves and leading to facial weakness, dysphagia, and dysarthria [ 7 ].[karger.com]
Foot Drop
  • More recent studies have demonstrated that focal weakness, manifesting as isolated wrist drop or foot drop, is an increasingly common finding [ 3, 11 ].[karger.com]
Dysesthesia
  • After 18 months and the reappearance of menstruation, progressive loss of strength in all four extremities again developed, with paresthesias and dysesthesias, and the reappearance of abdominal pain.[archivesofmedicine.com]

Workup

  • 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]
  • 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]
  • Urinary porphyrins should have been sent as part of the initial workup and interpreted along with other second-line tests.[cancertherapyadvisor.com]
  • Details are available from the APF or investigators of the national Porphyria Consortium Clinical Testing and Workup: Screening tests to measure the levels of the porphyrin precursor porphobilinogen (PBG) in urine are essential to confirm a diagnosis[porphyriafoundation.org]
  • "Think porphyria" in patients with abdominal pain that is unexplained after an initial workup has excluded common causes such as appendicitis, cholecystitis, pancreatitis, etc.[porphyriafoundation.org]
Enlargement of the Spleen
  • Manifestations of porphyria include gastrointestinal, neurologic, and psychologic symptoms, cutaneous photosensitivity, pigmentation of the face (and later of the bones), and anemia with enlargement of the spleen.[medical-dictionary.thefreedictionary.com]
Hyponatremia
  • The hyponatremia and elevation of creatine kinase was gradually corrected [Table 1].[mjdrdypu.org]
  • Hyponatremia may reflect inappropriate antidiuretic hormone secretion. Gastrointestinal or renal sodium loss may contribute.[porphyriafoundation.org]
  • Our patient presented repeatedly with hyponatremia. Marked hyponatremia frequently complicates acute porphyrias (4, 5, 7, 31, 34, 45).[ajp.psychiatryonline.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]
Erythroblast
  • Although most tissues in the human body synthesize heme, it is predominantly formed by erythroblasts in the bone marrow (75%‐80%) and hepatocytes in the liver (15%‐20%).[aasldpubs.onlinelibrary.wiley.com]

Treatment

  • Supportive and Symptomatic Treatment: Harmful drugs should be stopped immediately and avoided during treatment. For example, metoclopramide should not be given.[porphyriafoundation.org]
  • 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.[porphyriafoundation.org]
  • 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]
  • […] prompt treatment of complications.[journals.sagepub.com]

Prognosis

  • 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

  • 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]
  • 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]
  • ., anemia, alcohol, or chronic heavy metal poisoning ) Porphyria cutanea tarda (PCT) Epidemiology Most common porphyria Peak incidence : 40–70 years Sex: Etiology Defective uroporphyrinogen III decarboxylase ( UROD ) Type I: acquired insufficiency of[amboss.com]
  • 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]
  • Abdominal pain of unknown etiology, particularly after an expensive, time consuming, and unproductive search should be seriously considered for workup.[cancertherapyadvisor.com]

Epidemiology

  • 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]
  • ., anemia, alcohol, or chronic heavy metal poisoning ) Porphyria cutanea tarda (PCT) Epidemiology Most common porphyria Peak incidence : 40–70 years Sex: Etiology Defective uroporphyrinogen III decarboxylase ( UROD ) Type I: acquired insufficiency of[amboss.com]
  • 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]
  • The epidemiology of hepatocellular carcinoma in patients with Acute Intermittent Porphyria. J Intern Med. 1996; 240:195-201 7) Andant C, Puy H, Faivre J, Deybach JC. Acute hepatic porphyrias and primary liver cancer [Letter].[porphyriafoundation.org]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]
  • 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]
  • In AIP, pathophysiology of hyponatremia is only partly understood and can be associated with the syndrome of inappropriate antidiuretic hormone secretion, also contributed to by gastrointestinal or renal sodium loss [ 13 Straume Z, Skuja V, Proskurina[tandfonline.com]

Prevention

  • 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]

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