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

Medical History

Acute porphyria 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 tachycardia syndrome, 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

  • Pain in the abdomen, head, neck, chest, back, limbs, muscle, bones, joints, or nerves 

       (Guan-Liang Chen et al. 2013Balwani M et al. 2016, Naef RW et al. 1959,              Alfadhel M et al. 2014Simon A et al. 2018 (joint pain, nerve pain))

 

  • Anxiety, depression, irritability, hallucinations, paranoia, agitation, confusion, suicidal thoughts or actions, emotional lability

       (Guan-Liang Chen et al. 2013 (depression), Indika NLR et al. 2018                         (irritability), Faoucher M et al. 2019, González Arriaza HL et al. 2003                       (hallucinations, paranoia, 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))

  • Palpitations

       (Stewart MF et al. 2007)

  • Labile hypertension also known as autonomic instability / dysautonomia

       Heart rate and blood pressure that increase suddenly then decrease to                 normal 
      (Messas N et al. 2016)

  • Inability to swallow, also known as dysphagia

       (Patil AD et al. 2015, Naef RW et al. 1959, González Arriaza HL et al. 2003)

  • Nausea and/or vomiting

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

 

  • Dizziness

       (González Arriaza HL et al. 2003)

  • Constipation or diarrhea 

       (Menegueti MG et al. 2011 (constipation), Indika NLR et al. et al. 2018 (diarrhea),                          Gounden V 2020)

 

  • Decreased hemoglobin

       (Indika NLR et al. 2018)

 

  • Normochromic, normocytic anemia

       (Indika NLR et al. 2018)

 

  • Decreased or low potassium also known as hypokalemia 

       (Pischik 2015, De Block CEM et al. 1999, Dos Santos ARR et al. 2013)

 

  • Decreased magnesium also know as hypomagnesemia

       (Pischik 2015, Wang B et al 2018)

 

  • Decreased chloride also known as hypochloreormia  

       (Yuan T 2015)

 

  • Colonic diverticulosis also known as diverticular disease or diverticulitis

       A condition in which small, bulging pouches develop in the digestive tract      

       (Latina A et al. 2017)

  • Dryness of mouth

       (Patil AD et al. 2015)

  • Fatigue

       (Simon A et al. 2018)

  • Fever

       (Balwani M et al. 2016, Indika NLR et al. 2018)

  • Foot and wrist drop

       (Balwani M et al. 2016)

 

  • Gallstones  

       (Alfadhel M et al. 2014)

 

  • Cholecystitis which is inflammation of the gallbladder

       (Alfadhel M et al. 2014, Wang B et al. 2018

 

  • Gastroparesis 

       (Steinberg JM et al. 2016)

  • Hepatocarcinoma also known as hepatocellular carcinoma 

       (Menegueti MG et al. 2011, Guan-Liang Chen et al. 2013, Balwani M et al. 2016, Wang        B et al. 2016)

  • Absent reflexes also known as hyporeflexia

      (Patil AD et al. 2015, Nazila Rad et al. 2020, Naef RW et al. 1959, Alfadhel M et al.               2014, Balwani M et al. 2016)

 

  • Small amounts of blood in the urine (hematuria)

 

  • High Blood Pressure, also known as hypertension or low blood pressure, also known as hypotension 

       (Stewart MF et al. 2007)

 

  • Excessive sweating, also known as hyperhidrosis

        (Stewart MF et al. 2007, Gounden V 2020)

 

  • Positive antinuclear antibodies also called ANA

        (Patil AD et al. 2015, González Arriaza HL et al. 2003

 

  • Increased or elevated ferritin

        (Indika NLR et al. 2018)

 

  • Increased or elevated calcium, also known as hypercalcemia 

        (Barois A et al. 1977)

 

  • Increased or elevated white blood cells also known as leukocytosis

        (Pichler G et al. 2015, Zakharov 2015, Dos Santos ARR et al. 2013)

 

  • Increased C-reactive protein 

        (Dos Santos ARR et al. 2013)

 

  • Increased catecholamines 

        (De Block CEM et al. 1999)

 

  • Increased creatine kinase which occurs in rhabdomyolysis 

        (Nazila Rad et al. 2020)

 

  • Increased creatinine

        (Indika NLR et al. 2018)

 

  • Increased AST or ALT also known as aminotrasferase, transaminases, transaminitis or hypertransaminasemia 

        (Pichler G et al. 2015, Guan-Liang Chen et al. 2013

 

  • Increased cholesterol, also known as hypercholesterolemia

        (De Block CEM et al. 1999, Shiue JW et al. 1989, Indika NLR et al. 2018)

 

  • Increased aldosterone also known as hyperaldosteronism 

 

  • Increased prolactin also known as hyperprolactinemia

        (H Hallal 1993)

 

  • Intestinal obstruction

        (Indika NLR et al. 2018)

 

  • Insomnia 

       (Larion S et al. 2013)

 

  • Jaundice, which is yellowing of the skin caused by the buildup of bilirubin in the blood 

       (Kapetanos D et al. 2001)

 

  • Kidney disease also called renal insufficiency or tubulointerstitial nephritis 

       (Menegueti MG et al. 2011, De Block CEM et al. 1999, Messas N et al. 2016, Guan-              Liang Chen et al. 2013, Balwani M et al. 2016, Indika NLR et al. 2018, Wang B et al.              2018)

 

  • Liver failure

        (Messas N et al. 2016)

 

  • Systemic lupus erythematosus

        (Pichler G et al. 2015, Filiotou A et al. 2002, Cram DL et al. 1973, Allard SA et al. 1989,         Patil AD et al. 2015, Wolfram et al. 1952, Alioua C et al. 1999, Gibson GE et al. 1998             (PCT), Goffin SL et al.  2003 (PCT), Haendchen L et al. 2010 (PCT))

  • Malaise, which is a general feeling of discomfort

        (Stein PE et al. 2012)

 

  • Memory Loss

        (Simon A et al. 2018

 

  • Oral ulcers  

        (Patil AD et al. 2015)

 

  • Peripheral neuropathy

        (Simon A et al. 2018)

 

  • Axonal motor neuropathy also known as motor sensory axonal polyneuropathy 

        (Menegueti MG et al. 2011

 

  • Peripheral neuropathy which is tingling and numbness in the hands and feet

        (Patil AD et al. 2015)

 

  • Paralysis, flaccid tetraparesis also known as quadriparesis, tetraplegia, or paresis

      A type of paralysis that results in the partial or total loss of use of all four                  limbs and torso 

       (Menegueti MG et al. 2011, Park EY et al. 2014, Barois A et al. 1977, Alfadhel          M et al. 2014, Simon A et al. 2018, K Beckh et al. 1990, Gounden V 2020)

  • Posterior reversible encephalopathy syndrome (PRES) also called reversible posterior leukoencephalopathy syndrome

       A condition that 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

       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
       (Sim M 1979)

 

  • Autism 

       (Gaurav 2020)

  • Nausea and/or vomiting

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

 

  • Metabolic acidosis

      (Messas N et al. 2016, Indika NLR et al. 2018)

 

  • Muscle weakness 

      (Menegueti MG et al. 2011)

 

  • Restless leg syndrome

      (Hellman ES et al. 1962)

 

  • Respiratory failure

      (Messas N et al. 2016, Guan-Liang Chen et al. 2013, Simon A et al.)

 

  • Urinary retention, also known as oliguria or frequent urination also known as urinary incontinence or polydipsia

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

  • Seizures 

      (Tran TPY et al. 2013)

 

  • Skin issues may occur in HCP and VP: blistering, peeling, millia, scarring of skin, 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 the patient may have sun sensitivity. 

      (González Arriaza HL et al. 2003)

 

  • Syndrome of inappropriate antidiuretic hormone (SIADH), also referred to as hyponatremia 

      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, Kaupinnen 2002)

 

  • Tremors

      (Indika NLR et al. 2018)

  • Takotsubo cardiomyopathy, also known as broken heart syndrome or stress cardiomyopathy

     A temporary heart condition that develops in response to intense                             emotional or physical stress

      (Messas N et al. 2016, Madias JE 2016, Al-Falahi Z et al. 2018)

 

  • 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. 2011)

 

  • Distal wasting or atrophy of bilateral lower limbs

      (Patil AD et al. 2015)

 

  • Weight gain or weight loss

      (González Arriaza HL et al. 2003)