Porphyria cutanea tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Affected skin is fragile and may peel or blister after minor trauma. Liver abnormalities may also occur.

What causes porphyria cutanea tarda?

PCT is a cutaneous porphyria caused by a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD), which helps convert porphyrins into heme. Symptoms usually occur when levels of UROD drop to around 20% of normal levels. An accumulation of iron in the blood can also be a contributing factor.

What are the symptoms of porphyria cutanea tarda?

Symptoms

• blisters on skin that's exposed to the sun, including the hands, face, and arms.
• photosensitivity, which means your skin is sensitive to the sun.
• thin or fragile skin.
• increased hair growth, usually on the face.
• crusting and scarring of the skin.
• redness, swelling, or itching of the skin.

What is the cause of porphyria?

These disorders are usually inherited, meaning they are caused by gene mutations link passed from parents to children. If you have porphyria, cells fail to change chemicals in your body—called porphyrins and porphyrin precursors—into heme, the substance that gives blood its red color.

What is a usual presentation of porphyria cutanea tarda?

The most common presenting sign of porphyria cutanea tarda is fragility of sun-exposed skin after mechanical trauma, leading to erosions and bullae, typically on hands and forearms and occasionally on face or feet.

Introduction to Porphyria | Porphyria Cutanea Tarda vs. Acute Intermittent Porphyria

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Is porphyria cutanea tarda 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.

Is porphyria cutanea tarda acquired?

Approximately 80% of all cases of porphyria cutanea tarda are acquired; 20% are familial, although the ratio may vary among different geographic regions and ethnic groups. Familial porphyria cutanea tarda most often arises from autosomal dominant inheritance of a single mutation of the UROD gene.

Is porphyria cutanea tarda curable?

PCT is the most treatable form of porphyria and treatment appears equally effective for both the sporadic and familial forms. The standard treatment of individuals with PCT is regularly scheduled phlebotomies to reduce iron and porphyrin levels in the liver.

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.

How do you test for porphyria?

To diagnose porphyrias, laboratories measure porphyrins and their precursors in urine, blood, and/or stool. Testing may include measurement of one or more of the following: Porphobilinogen (PBG), a porphyrin precursor, in urine. Delta-aminolevulinic acid (ALA), another porphyrin precursor, in urine.

Is porphyria cutanea tarda a liver disease?

Porphyria cutanea tarda (PCT) is a condition that affects liver and skin by reduction and inhibition of hepatic uroporphyrinogen decarboxylase (UROD) enzyme activity. The disease has been classified into three subtypes.

How do you screen porphyria cutanea tarda?

How is porphyria cutanea tarda diagnosed? PCT may be clinically suspected but should always be confirmed by laboratory tests. Examination of the urine with a Wood's lamp may reveal coral pink fluorescence due to excessive porphyrins. A skin biopsy can be helpful to distinguish PCT from other blistering conditions.

What foods should be avoided with porphyria?

The main dietary advice for persons with Porphyria Cutanea Tarda is to avoid all alcohol in any form. In addition, adherence to a low iron diet with avoidance of any medicinal iron and with ingestion of limited amounts of liver or red meat, is recommended, at least until remission of active PCT has been achieved.

What tarda means?

Porphyria cutanea tarda: Literally, the late skin form of porphyria, a genetic photosensitive (light-sensitive) skin disease with onset in adult life with substances called uroporphyrins in the urine due to a deficiency of uroporphyrinogen decarboxylase (UROD), an enzyme required for the synthesis of heme (part of ...

What is the ICD 10 code for porphyria cutanea tarda?

E80. 1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

How does phlebotomy help porphyria cutanea tarda?

Chloroquine or hydroxychloroquine should not be used, as porphyrins liberated from hepatocytes by these agents enter the plasma, but cannot be cleared through the kidney, resulting in even higher circulating levels and increased cutaneous photosensitivity.

What medications should be avoided with porphyria?

Which medications should be avoided by patients with porphyria?

• Barbiturates.
• Anticonvulsants.
• Progestins.
• Rifampin.

Can you donate blood if you have porphyria cutanea tarda?

Must not donate if:

Porphyria Cutanea Tarda (PCT) is almost always an acquired condition associated with underlying liver disease, usually hepatitis of viral or unknown origin.

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 doctor treats porphyria tarda?

Consultation with a hematologist may be helpful in cases of suspected hemochromatosis or for management of phlebotomy or iron chelation therapies.

How can I reduce porphyrins on my skin?

Treatment for acute porphyria involves intravenous (IV) heme or glucose infusions (adding heme or glucose directly into a vein). These therapies decrease the number of porphyrins or porphyrin precursors produced in the liver. Other drugs are under investigation and may be available through clinical trials.

What are the symptoms of acute intermittent porphyria?

Signs and symptoms of acute porphyria may include:

• Severe abdominal pain.
• Pain in your chest, legs or back.
• Constipation or diarrhea.
• Nausea and vomiting.
• Muscle pain, tingling, numbness, weakness or paralysis.
• Red or brown urine.
• Mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia.

Is porphyria a metabolic disorder?

Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). This enzyme deficiency can result in the accumulation of porphyrin precursors in the body.

Why does porphyria cause abdominal pain?

Abdominal pain is by far the most serious symptom in attacks of acute intermittent porphyria. Its cause is unknown. This case study suggests visceral ischaemia as a possible cause of the abdominal pain.

Does porphyria cause positive ANA?

Serum antinuclear antibody (ANA) was found to be positive immediately after the porphyria attack and disappeared 30 days later. Many authors have mentioned the coexistence of systemic lupus erythematosus (SLE) and porphyria.