What are the symptoms of acute hepatic porphyria?

Signs and symptoms of acute porphyria may include:

How does porphyria affect the liver?

Liver problems Some people with protoporphyria also develop liver damage and cirrhosis, and up to 5 percent of people with protoporphyria develop liver failure. In people with protoporphyria, bile carries extra porphyrins from the liver to the gallbladder, which may lead to gallstones that are made of porphyrins.

How is acute hepatic porphyria treated?

Acute porphyrias Treatment may include: Injections of hemin, a medication that is a form of heme, to limit the body’s production of porphyrins. Intravenous sugar (glucose), or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates.

How common is acute hepatic porphyria?

In the majority of European countries, the prevalence of acute hepatic porphyrias is around 1/75,000. In 80% of cases the patients are female, with the majority aged between 20 to 45 years.

What triggers porphyria?

Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun. Attacks of porphyria can develop over hours or days and last for days or weeks.

Is porphyria an autoimmune disease?

The aetiology of porphyria cutanea tarda (PCT) has not been elucidated, but the possibility of an autoimmune mechanism has been proposed. We report a case of an unknown clinical combination of PCT with autoimmune hypothyroidism, alopecia universalis and vitiligo with thyroid and parietal cell circulating antibodies.

How is acute hepatic porphyria diagnosed?

Screening tests to measure the levels of the porphyrin precursor porphobilinogen (PBG) in urine are essential to confirm a diagnosis of acute porphyria. Acute attacks are always accompanied by increased production and excretion of PBG in AIP.

What foods should be avoided with porphyria?

People with porphyria are advised to maintain a diet with an average or higher-than-average intake of carbohydrates, which can lessen disease activitybut they are also advised to avoid refined sugars, corn syrup and heavily processed foods.

Are liver enzymes elevated in porphyria?

As reported by Ohtani et al., there have been reports of acute intermittent porphyria causing a mild increase of the liver enzymes and others that report an elevation of transaminases associated with abdominal pain [6, 7].

What is the life expectancy of someone with porphyria?

Patients with porphyria generally have a normal life expectancy. However, those with acute hepatic porphyria are at increased risk of developing high blood pressure, chronic kidney disease, and hepatocellular carcinoma (liver cancer), which may reduce their lifespan.

What does porphyria pain feel like?

Chronic pain experienced between attacks was often characterized as sore, dull, aching, throbbing, and/or burning (Table 2) and was the most frequently reported chronic symptom, experienced by 17 patients (78%).

When should you suspect porphyria?

Therefore, it is currently recommended that patients undergo screening by liver imaging for early detection at least yearly after age 50, especially if porphobilinogen (PBG) remains elevated.

What does acute hepatic porphyria mean?

Acute hepatic porphyria (AHP) refers to a family of ultra-rare, genetic diseases characterized by potentially life-threatening attacks and, for some patients, chronic manifestations that negatively impact daily functioning and quality of life.

What is chronic hepatic porphyria?

Disease definition. Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway).

What medications should be avoided with porphyria?

Which medications should be avoided by patients with porphyria?

What is porphyrin ring?

A porphyrin is a large ring molecule consisting of 4 pyrroles, which are smaller rings made from 4 carbons and 1 nitrogen. These pyrrole molecules are connected together through a series of single and double bonds which forms the molecule into a large ring. … The model of a general porphyrin is called porphin.

How do you test for porphyria?

Measurement of porphobilinogen, a porphyrin precursor, in urine is the most important test for diagnosing an acute neurological porphyria (AIP, VP or HCP). Measurement of porphyrins in urine and red blood cells is used to detect and diagnose porphyrias that affect the skin (PCT is by far the most common).

Why does porphyria cause abdominal pain?

Abdominal pain in the acute porphyric attack has no specific characteristics. It is caused by autonomic nerve dysfunction and frequently is accompanied by nausea, vomiting, and constipation.

Can porphyria cause mental illness?

Acute intermittent porphyria mimics a variety of commonly occurring disorders and thus poses a diagnostic quagmire. Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness ranging from somnolence to coma.

Does porphyria cause joint pain?

People who have acute porphyrias commonly suffer fatigue. This may be due to symptoms affecting muscles and joints (such as pain, numbness and weakness) and the sleep disturbance this may cause. In some cases the effects of medication used to control symptoms may contribute to bouts of tiredness.

How is intermittent porphyria diagnosed?

Diagnosis of AIP is suspected in individuals with otherwise unexplained severe, acute abdominal pain without physical signs. The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is present.

What part of the body does porphyria affect?

Porphyria occurs when the body cannot convert compounds called ‘porphyrins’ into heme. While all tissues have heme, those that use it the most are the red blood cells, liver and bone marrow. Porphyria can affect the skin, nervous system and gastrointestinal system. More women than men are affected by porphyria.

Is acute intermittent porphyria hereditary?

How is acute intermittent porphyria (AIP) inherited? AIP is inherited in an autosomal dominant fashion, which means only one of the two HMBS genes needs to have a disease-causing mutation to decrease enzyme activity and cause symptoms.

Can porphyria cause weight gain?

Unfortunately, because of the therapeutic high carbohydrate intake, patients with hepatic porphyrias are prone to weight gain. Losing excess weight is very difficult for some of these patients because of fasting-induced acute attacks.

Can you drink with porphyria?

A few patients also report that phototoxic reactions are more likely after drinking alcohol. Those with acute porphyria (AIP, VP, HCP and ADP) should be very cautious with alcohol as it is a common trigger for acute attacks. This is particularly important for those who have had attacks in the past.

Does sugar help porphyria?

The protein may be in the form of animal or vegetable protein. The carbohydrates should preferably not include large amounts of refined sugars or high fructose corn syrup, although oral or intravenous carbohydrate in the form of dextrose may be prescribed for therapy of acute attacks of Porphyria.

What is the difference between hepatic and erythropoietic porphyria?

Porphyrias are divided into erythropoietic and hepatic manifestations. Erythropoietic porphyrias are characterized by cutaneous symptoms and appear in early childhood. Erythropoietic protoporphyria is complicated by cholestatic liver cirrhosis and progressive hepatic failure in 10%, of patients.

What is acute hepatic?

Acute Hepatic Porphyria (AHP, also known as Acute Porphyria) refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic (ongoing and sometimes lifelong) pain and other symptoms that interfere in their ability to live normal lives.

What is Alagille syndrome?

Alagille syndrome is an inherited condition in which bile builds up in the liver because there are too few bile ducts to drain the bile. This results in liver damage. Your liver makes bile to help remove waste from your body.