Abdominal pain, limb discomfort, and confusion – Have you heard of porphyria?

Porphyria is a rare, inherited disease characterized by disturbances in the formation of hemoglobin, the blood pigment. The name of the disease derives from the Greek word “porphyreos,” which refers to the purplish-red urine that is one of its most characteristic symptoms. In Hungary, approximately 150 people live with a porphyria diagnosis, but this number is likely higher as the disease often remains hidden. There are two main types of porphyrias: acute and chronic forms, which present with different clinical manifestations.

Characteristics of Porphyria

Porphyria involves a dysfunction in the enzymes necessary for the production of hemoglobin, leading to the accumulation of porphyrins and their precursors in the body, which causes various clinical symptoms. The disease can be categorized into two main groups: acute and chronic forms. In acute porphyrias, patients may experience severe neurovisceral symptoms, while chronic forms can also present with skin symptoms.

These symptoms can be extremely varied and often nonspecific, complicating the diagnosis. The most common complaint is recurring abdominal pain, which can occur in young women regardless of menstruation. Additionally, pain may also arise in the back and limbs. Recognizing the disease is particularly important, as delays in diagnosis can lead to severe complications.

Porphyria is inherited in a dominant manner, meaning that carriers have a 50% chance of passing the disease to the next generation. However, not everyone who carries the mutant gene will develop the disease, and clinical presentation depends on many factors, including environmental influences and lifestyle factors.

Symptoms and Diagnosis of Porphyria

The most characteristic symptom of porphyria is recurring, cramp-like abdominal pain, which is especially common among young women. In addition, patients may experience back and limb pain. The condition can worsen if patients take medications that are not suitable for those suffering from porphyria, such as Algopyrin. In such cases, symptoms may include palpitations, nausea, vomiting, and constipation, and patients may even become confused.

Establishing a diagnosis is often challenging, as the symptoms of porphyria can also be indicative of many other diseases. Specialists must recognize the suspicion of the disease and perform the necessary biochemical tests to confirm the diagnosis. Screening for family members of porphyria patients is also important, as the hereditary disease can often affect other family members.

Diagnosing and treating porphyria is essential for improving patients’ quality of life, as delays can have serious consequences, potentially even leading to death.

Treatment Options for Porphyria

Treating porphyria is a complex task that depends on the severity and type of the disease. In the case of acute attacks, the most important aspect is appropriate medication, which often involves the use of intravenous human heme preparations. These preparations help alleviate the acute attack, and patients’ conditions generally improve after treatment.

For pain management, the use of narcotic pain relievers is necessary, while specific medications are available to alleviate symptoms of nausea and palpitations. The introduction of new, innovative therapies may also contribute to preventing acute attacks and improving patients’ quality of life.

While medications play a crucial role in treatment, patients’ lifestyles also significantly impact the course of the disease. Healthy eating, appropriate carbohydrate intake, and regular but not excessive exercise are essential. Avoiding alcohol consumption and smoking is also recommended, as these can provoke attacks.

Patients must pay attention to their symptoms and seek medical help at the slightest complaint. Proper medical care and preventive measures can help patients avoid more severe conditions.

Where Can Patients Get Help?

The North Pest Center Hospital – Honvéd Hospital is the center specializing in examining patients suspected of porphyria and treating those already diagnosed. The center’s outpatient services are available nationwide, and patients can apply without a referral, although prior appointment scheduling is necessary.

The center has the necessary laboratory diagnostic background that allows for the differentiation of types of porphyria and the application of appropriate treatment protocols. Treatment of acute attacks occurs in the internal medicine department, where specialists ensure that patients receive care tailored to their condition.

The Batthyány-Strattmann László Foundation aims to support porphyria patients with innovative solutions that contribute to their daily lives and recovery. The foundation also decides on the individual equity state support for medications applicable to porphyria.

Wider recognition of porphyria is essential for ensuring that patients receive the appropriate diagnosis and treatment in a timely manner. Screening for cases within families and providing appropriate counseling can help raise awareness about the disease, thereby contributing to improving patients’ quality of life.