Porphyria: Identifying Various Types and Link to Mental Health
Porphyria is a group of uncommon illnesses that are caused by an accumulation of naturally occurring chemicals known as porphyrins in the body. These disorders are linked to a molecule called heme.
This disorder has recently gained recognition again because of the popular show, Queen Charlotte: A Bridgerton Story. It is suspected that King George III had this condition and an associated bipolar disorder.
Depending on the type, this condition can affect the skin, the nervous system, the digestive system, or all of these simultaneously. Currently, there isn't a cure for it, but the symptoms can generally be managed with medicine and changes in lifestyle.
What Is Porphyria and Its Connection to Mental Illness?
Porphyria is a term used to describe a collection of rare genetic illnesses that disrupt the formation of heme, a necessary component of hemoglobin.
Although this disease predominantly affects heme production, it can also manifest neurologically. The specific mental disorders associated with this disease can differ depending on the disorder's type and severity. Acute intermittent porphyria (AIP) and Variegate porphyria (VP) are known to cause neurological symptoms, including psychiatric manifestations.
Psychiatric symptoms can range from moderate to severe and include anxiety disorders, major depressive disorder, hallucinations, delusions, confusion, agitation, paranoia, and even psychosis. These symptoms may occur during acute attacks, which may be precipitated by certain medications, hormonal changes, fasting, or excessive alcohol consumption.
What Are the Different Types?
This disorder is classified into numerous forms. Each variety has distinct symptoms and affects different body systems. Although this disease is an uncommon ailment, recognizing its various kinds aids in identification, therapy, and management.
1) AIP
The most frequent form of this condition is AIP. Severe stomach discomfort, weakness in the muscles, and neurological disorders such as seizures and hallucinations are common symptoms. The psychiatric symptoms can range from fatigue to psychosis.
2) PCT (Porphyria Cutanea Tarda)
PCT has the most impact on the skin. It leads to blistering, photosensitivity (skin hypersensitivity to the sun), and skin fragility, which frequently results in skin damage or scarring.
3) VP
VP symptoms are a combination of skin (blisters or photosensitivity) and neurological symptoms (muscle weakness, convulsions). It may also induce stomach aches. This is also the most linked to mental health symptoms like major depressive disorder.
4) HCP (Hereditary Coproporphyria)
HCP causes stomach pain, neurological issues, and, occasionally, skin problems. It can also turn urine a dark purple colour.
5) CEP (Congenital Erythropoietic Porphyria)
CEP is often considered the most severe type. It causes photosensitivity, blisters, and abnormalities in the skin. It can also cause anaemia and other associated issues.
6) EPP (Erythropoietic Protoporphyria)
EPP usually impacts the skin and creates significant sun sensitivity. Sunlight exposure can cause painful, swollen skin, as well as itching and redness.
Treatment: Where Can I Find Help?
Genetic counsellors are medical specialists who have received training in the fields of counselling and genetics. They can help you learn about your disease and what causes it, why it is passed on, and exactly what a diagnosis implies for your kid's wellness and growth, as well as for your family.
If porphyria exists among your relatives, a genetic counsellor may clarify your and other family members' genetic testing options. It's important to know that psychiatric symptoms of porphyria can sometimes be misdiagnosed as the primary mental health issues, which can delay the right diagnosis and treatment. So, if someone has a history of this condition or if it is suspected, it is important to think about the chance of mental illnesses caused by this disease.
To treat mental problems caused by this condition, you have to take care of the condition itself. This could mean staying away from triggers, taking medicine to control symptoms during acute attacks, or, in some cases, getting regular heme infusions or a liver donation to make more heme.
If you suffer an attack, you might have to be admitted to the hospital. You will be given discomfort, nausea, and vomiting medication. Your doctor may give givosiran (Givlaari), which aids in the reduction of toxins associated with the attacks.
Because porphyria is frequently inherited, siblings and other relatives may wish to seek genetic testing to see if they have the disorder as well. Genetic counselling is essential for understanding the outcomes of tests and risks.
If you or someone you know has this condition and is also experiencing associated mental health problems, it is important to talk to a doctor who knows about porphyria to get a correct diagnosis and make sure that symptoms are treated correctly.
Janvi Kapur is a counselor with a Master's degree in applied psychology with a specialization in clinical psychology.
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Susrita Das