The Acute Porphyria's Medical History, Signs and Symptoms, and Laboratory Findings

Medical History

Attacks can occur anytime in a person's life, even in infancy and childhood (Singh 2003 "AIP An unusual cause of malignant hypertension"). The patient may already have multiple diagnoses such as inappropriate sinus tachycardia, postural orthostatic hypotension, gastroparesis, constipation or irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, generalized anxiety disorder, also called panic disorder, bipolar disorder, somatization disorder, also called conversion disorder, major depressive disorder, schizophrenia, and premenstrual dysphoric disorder (Dhoble et al., 2009, Grigoriou et al., 2015, Peters et al., 2006, Laine et al., 2007, Tippett 2006, Crimlisk 1997, Singh et al. 2015, Patience et al., 1994, Ahangari 2015, Cederlöf et al., 2015). The patient may have seen multiple doctors, such as general practitioners, emergency physicians, gastroenterologists, psychiatrists, neurologists, cardiologists and had many tests. Many patients fighting for their life during an attack have been denied medical treatment, and sent to a psychologist, or admitted to a mental hospital, due to a lack of understanding of the disease and poor testing availability. Adverse reactions to a variety of medications are a common finding, many medications can make an acute porphyria patient far sicker and must be stopped immediately, or as quickly as possible (citation). Please check the porphyria drugs database, drugs-porphyria.org, for any medication and always be very cautious with any new medication as safe medications have also triggered attacks. If you're starting a new medication it's a good idea to take the lowest dose or a fraction of the dose and wait several hours before taking any more/others. Many seizure medications, barbiturates, sulfa meds, hormonal medications and IUDs, SSRI's, many antibiotics, and anti-fungals, amphetamines, cocaine, lidocaine (use extreme caution with any "caine"), smoking, marijuana, alcohol, fasting, including low carbohydrate diets, vaccines, caffeine, stress, painting with lead paint, and working with other paints, solvents or chemicals, hot or cold weather, certain foods (the website porphyria tripod has an extensive list), sun exposure, grief, physical exertion, and even flying in an air plane have all been documented to cause attacks.

Signs and Symptoms and Laboratory Findings

       

      or nerves 

| Guan-Liang Chen et al. 2013 (neck pain) Guan-Liang Chen et al. 2013 (chest pain)Guan-Liang Chen et al. 2013 (back pain), Simon A et al. 2018, Balwani M et al. 2016 Guan-Liang Chen et al. 2013 (limb pain), 2018, Naef RW et al. 1959, Alfadhel M et al. 2014 (muscle pain), Simon A et al. 2018 (bone pain) Simon A et al. 2018 (joint pain), Simon A et al. 2018 (nerve pain)

  • Palpitations

      Stewart MF et al. 2007 

  • Posterior reversible encephalopathy syndrome (PRES) also called reversible posterior leukoencephalopathy syndrome which presents with headache, seizures, hypertension, altered consciousness, and visual disturbance (Arora H et al. 2019, 

    •         González Arriaza HL et al. 2003

  • Postural orthostatic tachycardia syndrome (POTS) also known as orthostatic hypotension is a blood pressure that drops when standing up from a lying or sitting position and presents with  lightheadedness, dizziness, fainting, palpitations, and rapid heartbeat . It is defined as a fall in systolic blood pressure of at least 20 mm Hg or a fall in diastolic blood pressure of at least 10 mm Hg when a person assumes a standing position and an increase in the heart rate of more than 30 beats per minute, or a heart rate that exceeds 120 beats per minute, within 10 minutes of rising

  • Acute Intermittent Porphyria with postural hypotension Sim, M 1979).

  • Psychiatric:

  • Anxietydepression, irritability, hallucinations, paranoia, agitation, confusion, suicidal thoughts, emotional lability

      Guan-Liang Chen et al. 2013 (depression), Indika NLR et al. 2018 (irritability), Faoucher M et al. 2019González Arriaza HL et al. 2003 (hallucinations), | González Arriaza HL et al. 2003 (paranoia) | González Arriaza HL et al. 2003 (agitation) | Millward LM et al. Indika NLR et al. 2018 (confusion), Gounden V 2020 (confusion), González Arriaza HL et al. 2003 (suicidal thoughts), Indika NLR et al. 2018 (emotional lability) 

  • Nausea and/or vomiting

        Messas N et al. 2016 (nausea), Wang B et al. 2018 (nausea), Indika NLR et al. 2018 (vomiting), 

        Menegueti MG et al. 2011, 

        Indika NLR et al. 2018 (urinary retention or urinary incontinence)

    • Seizures 

    •        Tran TPY et al. 2013, 

  • Skin issues may occur in HCP and VP - blistering, peeling, millia, scarring of skin which can present as redness, hypopigmentation or hyperpimentation, fragility, itching, sores, particularly on sun exposed areas such as the face, and backs of hands, but can occur anywhere, and may have sun sensitivity. 

       González Arriaza HL et al. 2003

  • Syndrome of inappropriate antidiuretic hormone (SIADH), also referred to as hyponatremia, is a condition in which high levels of anti-diuretic hormone cause the body to retain water. Symptoms include nausea and vomiting, headache, 

      confusion, weakness, and fatigue

        De Block CEM et al. 1999, Ashawesh KA et al. 2005, Pichler G et al. 2015, Latina A et al. 2017           

  • Elevated respiratory rate also known as tachypnea

       Patil AD et al. 2015, Menegueti MG et al. 2011, Messas N et al. 2016, 

    • Fast heart rate also known as tachycardia 

    •          Stewart MF et al. 2007, 

  • Tremors

  •        Indika NLR et al. 2018

  • Tachycardia​​​

  • Kaupinnen 2002

  • Takotsubo cardiomyopathy, also known as broken heart syndrome or stress cardiomyopathy, is a temporary heart condition that develops in response to intense emotional or physical stress

  • Urine may be dark (cola, bright red, red wine, whiskey, or orange colored) when exposed to sunlight for up to 72 hours

        Stein PE et al. 2012, Wang B et al. 2018

​​​

  • Upper respiratory tract infection

       Balwani M et al. 2016

  • Urinary tract infection. Symptoms include burning feeling when peeing, frequent or intense urge to pee, even though little comes out when you do, and pain or pressure in your back or lower abdomen 

        Menegueti MG et al. 201​​

    • Distal wasting or atrophy of bilateral lower limbs

    • (Patil AD et al. 2015

    • Weight gain or weight loss

    •        González Arriaza HL et al. 2003