INTRODUCTION:

Porphyria is a group of metabolic disorders due to an enzymatic defect of heme biosynthesis, which is a rare disorder. It’s a failure of chemical change in the body called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color.¹

The term 'porphyrin' comes from the Greek word, porphyous, meaning reddish-purple.²

Incidence:

Reported prevalence of porphyrias varies, from 1 in 500 to 1 in 50,000 people worldwide.³

Causes:

1. Inherited mutation:⁴

a) Autosomal dominant inheritance – the altered gene is inherited from one parent. This altered gene overrides the healthy gene inherited from the other parent.

b) Autosomal recessive inheritance – the altered gene is inherited from both parents.

2. Female sex hormones, commonly progesterone

3. Medications such as antibiotics and anticonvulsants

4. Nutrients - Lowered intake of carbohydrates and metabolic and bariatric surgery

5. Habits such as alcohol consumptions and smoking⁵

Types:

Porphyria is widely classified into acute porphyria and cutaneous porphyria.

· Acute Porphyria: Patients present with acute, debilitating, life-threatening attacks that may be precipitated by medications, hormonal changes, or starvation.⁶

· Cutaneous porphyria: It is presented with skin lesions, photosensitivity, and anemia, which is commonly due to chronic liver disease and iron overload in the liver.

Figure 1 shows the classification of porphyria

Source: American Porphyria Foundation

Acute intermittent porphyria (AIP):

It is characterized by a deficiency of hydroxymethylbilane synthase (HMBS). It presents with abdominal pain, nausea, vomiting, and peripheral neuropathy.⁷

Hereditary Coproporphyria (HCP):

It is characterized by deficiency of coproporphyrinogen oxidase.⁴ It is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete.⁸

Variegate porphyria (VP):

It is both a cutaneous and an acute porphyria. The most common manifestation of VP is adult-onset cutaneous blistering lesions of sun-exposed skin.⁹

ALAD-Deficiency Porphyria (ADP):

Delta-aminolevulinic acid (ALA) dehydratase deficiency porphyria (ADP) involves the ALA dehydratase enzyme, which is the second enzyme in the heme synthesis pathway after ALA synthase.¹⁰

Porphyria Cutanea Tarda (PCT):

It is caused by the deficiency of the uroporphyrinogen III decarboxylase (UROD) enzyme and should be differentiated from other porphyrias. The hallmark of this disorder is photosensitivity.¹¹

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP):

EPP results from the partial deficiency of ferrochelatase, and XLP results from gain-of-function mutations in erythroid-specific 5'-aminolevulinate synthase 2 (ALAS2), which is a key enzyme in heme biosynthesis, specifically within developing red blood cells. Both disorders result in the accumulation of erythrocyte protoporphyrin, which is released in the plasma and taken up by the liver and vascular. ¹²

Congenital Erythropoietic Porphyria (CEP):

CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. It is characterized by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed. ¹³Onset in most affected individuals occurs at birth or early in life. ¹⁴ It is also known as Günther¹⁵.

Hepatoerythropoietic Porphyria (HEP):

It is manifested clinically by photosensitivity commencing in early childhood.As in PCT, there is a deficiency of uroporphyrinogen decarboxylase (UROD), but the activity of this enzyme is much less than in ¹⁷. blistering skin lesions, hypertrichosis, and scarring over the affected skin.¹⁸

Heme synthesis and porphyria:

Porphyrias result from a deficiency of any of the last 7 enzymes of the heme biosynthetic pathway or from increased activity of the erythroid form of the first enzyme in the pathway. ¹⁹

Figure 2 shows the heme synthesis pathway and porphyria

Clinical manifestation:

· Abdominal pain is typically severe, epigastric, and colicky. Associated with constipation and vomiting.

· Psychiatric symptoms, such as depression. Depression profoundly diminishes quality of life in people with epilepsy.²⁰

· Peripheral neuropathies with weakness of lower extremities and ascendance. This presentation can mimic Guillain-Barre syndrome (GBS). Hypertension and tachycardia secondary to autonomic neuropathies can also occur.

· Central nervous system signs may include delirium, weakness with progression to quadriplegia and respiratory failure, cortical blindness, and even coma. Seizures may also develop, with partial seizures being the most common subtype.

· Sometimes red or brown urine may be observed, which darkens on exposure to air, light, and warmth.⁷

· Mild anemia¹⁸^–It also becomes a major health issues²¹.Anemia is also the factors tthat affect the "quality of life"²².

· Cutaneous Manifestations includes photosensitivity, along with the formation of skin blisters, vesicles, bullae, and increased fragility of the skin, is seen when exposed to sun. On repeated exposure it develops hyper- and hypopigmented scars and milia, which are small yellowish-white keratin filled papules²³.

Diagnostic procedure:

· Urine: Elevated porphyrins, especially porphobilinogen (PBG), and delta-aminolaevulinic acid (ALA), are key indicators, particularly during acute attacks⁷.

· Blood: Plasma porphyrin levels are analysed to assess the type of porphyria, especially in cases with skin blistering or non-blistering symptoms²⁴.

· Stool: Porphyrin levels in stool are also measured, particularly for certain types of porphyria²⁴

· Gold standard is genetic testing including for family members²⁵.

Management:

· Hemin infusion: First line of therapy for porphyria²². Dosage: A daily infusion of 1-4mg/kg for 3-14 days, with doses to be repeated no more often than every 12hours and not to exceed 6mg/kg in 24hours²⁶.

Prescribed Dosage (mg/kg) x

Patient Weight (kg)

Formula²⁷: ml to infuse = –––––––––––––––––––––––––––––

7 mg/mL

Concentration of Reconstituted hemin

· Dextrose and other IV fluids: For adequate carbohydrate intake and also to treat electrolyte imbalance²⁸ hypomagnesia, hypocalcaemia, hypophosphatemia and hypokalemia²⁹.

· Pain: Opioids such as morphine, fentanyl and tramadol³⁰, Meperidine, Nonopioid Adjunctive Medication^26. Also, dry cold application is effective in reducing pain³¹^.

· Nausea and Vomiting: There will be increased incidence of nausea and vomiting was reported after opioid administration³²^.Ondansetron.

· Psychiatric symptoms: Phenothiazines, such as chlorpromazine given, which helps in managing psychiatric symptoms³⁰.

· Seizure management: First-line drugs, Magnesium sulphate and diazepam; Lorazepam for status epilepticus. For long term seizure gabapentin⁶.

· Phlebotomy to reduce iron level¹.

· Chloroquine or Hydroxychloroquine antimicrobial agents also used in autoimmune diseases³³ also promote excrete porphyrin in urine³⁴.

· Metalloporphyrin - Investigational but have demonstrated encouraging results in both haemolytic and non‑haemolytic conditions, showing efficacy without notable side effects³⁵.

· Counselling: Ongoing counselling provides patients and their families with vital emotional support and coping skills, offering a safe space to express feelings and build resilience throughout the slow and often challenging treatment journey³⁶.Support that the counselling program is effective in reducing the level of burden and improving the coping among primary caregivers of ill patients³⁷.

Genetic counselling involves educating individuals and their families about the characteristics, inheritance patterns, and consequences of genetic disorders, empowering them to make informed medical and personal choices³⁸. Referral intake, needs assessment, test selection, results interpretation, family communication is very important³⁹.

Post Prophylaxis od porphyria:

Post-exposure prophylaxis should only be considered in emergency situations and must be initiated within 72 hours of a potential exposure. PEP should be offered as part of a comprehensive universal precautions strategy to minimize occupational exposure to infectious hazards, alongside vaccination and counselling.⁴⁰

Prevention:

· Lifestyle modification: Avoid alcohol and smoking, well balanced diet, protection from sunlight

· Managing underlying condition: Manage infection such as HIV OR Hepatitis C, controlling iron overload

CONFLICT OF INTEREST:

None.

ACKNOWLEDGEMENT:

I would like to thank my family, friends and my colleague of TMM College of Nursing.

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Received on 02.05.2025 Revised on 20.08.2025

Accepted on 22.10.2025 Published on 30.04.2026

Available online from May 02, 2026

Int. J. Nursing Education and Research. 2026;14(2):167-170.

DOI: 10.52711/2454-2660.2026.00033

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