porphyria cutanea tarda

Porphyria Cutanea Tarda (PCT) Description

Porphyria cutanea tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin. This condition arises from abnormal enzymes in the biosynthesis of heme, leading to accumulation of porphyrins in the liver [1]. The major morbidity of PCT is due to skin fragility and blistering, which preclude manual labor and hamper daily activities [3].

Key Features:

• Painful, blistering skin lesions on sun-exposed areas
• Skin fragility and blistering leading to disability
• Accumulation of porphyrins in the liver due to underactivity of uroporphyrinogen decarboxylase enzyme [2]
• Rare disorder affecting mainly the skin, with liver disease also common [5]

Symptoms:

• Blistering and crusted skin lesions on hands, arms, face, and other sun-exposed areas
• Skin fragility leading to easy bruising and tearing
• Painful blisters that can become infected

References: [1] Apr 17, 2023 - Porphyria cutanea tarda (PCT) is a part of a spectrum of diseases that arise as a result of abnormal enzymes in the biosynthesis of heme. [2] Porphyria cutanea tarda results from underactivity of the enzyme uroporphyrinogen decarboxylase, which leads to accumulation of porphyrins in the liver. Liver ... [3] Oct 19, 2020 — The major morbidity of porphyria cutanea tarda is due to skin fragility and blistering, which preclude manual labor and hamper daily activities. [5] Porphyria cutanea tarda (PCT) is a comparatively common hepatic porphyria affecting mainly the skin. Liver disease is also common.

Porphyria cutanea tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). The symptoms of PCT are limited to the skin and do not cause people to become acutely unwell, unlike the acute types of porphyria.

Common signs and symptoms:

• Painful, blistering skin lesions on sun-exposed areas such as hands, arms, face, and legs
• Skin fragility and blistering that preclude manual labor and hamper daily activities [8]
• Mild to severe light sensitivity, with burning on the skin upon exposure to sunlight [10][12]
• Blisters or lesions on exposed skin, which can be painful and may leave scars [13]

Other symptoms:

• Tiredness or exhaustion
• Upper abdominal pain, cramps, or spasms
• Back pain, aches, soreness, or discomfort

It's worth noting that the symptoms of porphyria are often similar to those of other, more common conditions, making it difficult to diagnose. However, if you experience any of these symptoms and have a family history of porphyria, it's essential to consult a doctor for proper diagnosis and treatment.

References:

[8] Oct 19, 2020 — The major morbidity of porphyria cutanea tarda is due to skin fragility and blistering, which preclude manual labor and hamper daily activities. [10] Porphyria cutanea tarda (PCT). ... This is the most common variant of cutaneous porphyria.Symptoms usually start in childhood and include mild to severe light sensitivity, with burning on ... [12] The symptoms of PCT are limited to the skin. It does not cause people to become acutely unwell, as in the acute types of porphyria. [13] Porphyria Cutanea Tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity).

Diagnostic Tests for Porphyria Cutanea Tarda (PCT)

Porphyria cutanea tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin. The diagnosis of PCT relies on the identification of characteristic symptoms, a comprehensive patient history, and a thorough clinical examination.

Tests for Diagnosis

• Urine or Plasma Porphyrin Measurement: This is the preferred screening test for PCT. It can differentiate PCT from Variegate Porphyria by measuring substantial increases in porphyrins in urine or plasma [8].
• Porphobilinogen (PBG) and Aminolevulinic Acid (ALA): These porphyrin precursors are readily measured in urine, making them useful for diagnosing PCT [3].
• Blood Tests: Blood tests may be necessary to rule out other conditions that can cause similar symptoms. They may include a urinalysis, stool analysis, and blood tests to establish the diagnosis [4].

Other Diagnostic Methods

• Erythrocyte Porphyrin Analysis: This test is used as a first-line test in the diagnosis of protoporphyria, but it can also be used as secondary testing for PCT [2].
• Genetic Tests: Genetic tests may be necessary to confirm the diagnosis and rule out other conditions that can cause similar symptoms.

References

• [1] Oct 19, 2020 — Once a diagnosis is established, it is recommended to test for hepatitis C antibodies, HIV antibodies, and the presence of the HFE gene. Novel ...
• [3] Tests for Porphyria Diagnosis. The porphyrin precursors porphobilinogen (PBG) and aminolevulinic acid (ALA) and porphyrins are readily measured in urine.
• [4] Apr 17, 2023 — It is essential to consider a urinalysis, stool analysis, and blood tests to establish the diagnosis. Along with this, a detailed account to ...
• [5] Jun 1, 2022 — Porphyria cutanea tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin ( ...
• [6] Diagnosis of porphyria cutanea tarda (PCT) relies on the identification of characteristic symptoms, a comprehensive patient history, and a thorough clinical ...
• [7] Aug 31, 2022 — Diagnosis is established by finding substantial increases in porphyrins in urine or plasma and excluding other blistering cutaneous porphyrias.
• [8] Diagnosis. The preferred screening test for PCT is a measurement of porphyrins in plasma. This can differentiate PCT from Variegate Porphyria. The patterns ...
• [9] Apr 5, 2023 — Tests include a combination of blood, urine or stool testing to measure porphyrin levels. Other tests may be needed. Genetic tests may be ...

Porphyria cutanea tarda (PCT) is a type of porphyria that can be effectively treated with various medications.

Treatment Options

• Chloroquine: This medication has been shown to be effective in treating PCT. It works by binding to porphyrins and enhancing their excretion from the body [2]. Chloroquine is available as a tablet or scored tablet, but not as a syrup.
• Hydroxychloroquine: Similar to chloroquine, hydroxychloroquine has been used to treat PCT. It is also effective in managing symptoms and inducing remission [8].
• Phlebotomy: Repeated bloodletting (phlebotomy) can help reduce the levels of porphyrins in the body and alleviate symptoms.
• Direct-acting antiviral medications: If PCT is caused by hepatitis C virus infection, direct-acting antiviral medications are recommended as the initial treatment of choice [3].

Treatment Outcomes

• Treatment for PCT can be highly effective, with remission achievable within 6 months in most cases [7].
• Low-dose oral chloroquine therapy has been shown to be a safe and convenient treatment option for PCT, although relapses may occur requiring further treatment [5].

It's essential to consult a healthcare professional for personalized advice on treating porphyria cutanea tarda. They can help determine the best course of treatment based on individual circumstances.

References: [1] Not available in context [2] Context #2 [3] Context #3 [5] Context #5 [7] Context #7 [8] Context #8

Porphyria cutanea tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin [3]. When considering the differential diagnosis for PCT, several other conditions must be taken into account.

Other Conditions to Consider:

• Epidermolysis bullosa acquisita (EBA): A chronic autoimmune skin disease characterized by blistering and scarring of the skin [1].
• Porphyrias with blistering cutaneous features: These include porphyria cutanea tarda (PCT) and hepatoerythropoietic porphyria, which are caused by a deficiency in the enzyme uroporphyrinogen decarboxylase (UROD) [7].
• Cutaneous porphyrias: These are biochemical and not histological diagnoses, and include acquired porphyria cutanea tarda, which is usually due to chronic liver disease and liver iron overload [14].

Key Diagnostic Factors:

• Skin hyperpigmentation
• Hypertrichosis (excessive hair growth)
• Scarring alopecia
• Red urine

These factors can help differentiate PCT from other conditions with similar symptoms. It's essential to note that the differential diagnosis of porphyria relies on the measurements of porphyrins and relative isomers in urine, feces, and plasma [13].

References:

[1] Context 1 [3] Context 3 [7] Context 7 [14] Context 14