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Which are the symptoms of Porphyria?

See the worst symptoms of affected by Porphyria here

Porphyria symptoms

Symptoms of Porphyria


Porphyria refers to a group of rare genetic disorders that affect the production of heme, a vital component of hemoglobin. These disorders are characterized by the abnormal accumulation of porphyrins, which are precursors to heme, in various body tissues. Porphyria can manifest in different forms, each with its own set of symptoms. The symptoms can range from mild to severe and may vary depending on the specific type of porphyria an individual has.



Acute Porphyrias:


1. Abdominal Pain: One of the most common symptoms of acute porphyrias is severe abdominal pain. This pain is often colicky in nature, meaning it comes and goes in waves. The pain can be localized to the abdomen or spread to other areas such as the back.


2. Neurological Symptoms: Acute porphyrias can cause a range of neurological symptoms, including:



  • Peripheral neuropathy: Nerve damage that leads to weakness, numbness, and tingling in the limbs.

  • Motor neuropathy: Weakness and muscle wasting, particularly in the arms and legs.

  • Autonomic neuropathy: Dysfunction of the autonomic nervous system, resulting in symptoms like rapid heartbeat, low blood pressure, and digestive issues.

  • Psychiatric symptoms: Some individuals may experience anxiety, depression, confusion, hallucinations, or even psychosis.

  • Seizures: In rare cases, seizures may occur.


3. Skin Manifestations: Certain acute porphyrias can cause skin-related symptoms, such as:



  • Photosensitivity: Skin becomes extremely sensitive to sunlight, leading to blistering, redness, and swelling.

  • Cutaneous lesions: Skin may develop blisters, ulcers, or other abnormal lesions.

  • Hypertrichosis: Excessive hair growth, particularly on the face, may occur.



Cutaneous Porphyrias:


1. Photosensitivity: Cutaneous porphyrias are primarily characterized by extreme sensitivity to sunlight. Exposure to sunlight can trigger symptoms such as:



  • Blisters: Formation of fluid-filled blisters on sun-exposed areas of the skin.

  • Redness and swelling: Skin may become red, swollen, and itchy.

  • Scarring and changes in pigmentation: Repeated episodes of blistering can lead to scarring and changes in skin color.


2. Skin Fragility: Fragility of the skin is a common symptom in cutaneous porphyrias. Even minor trauma or friction can cause blisters or skin erosions.


3. Hypertrichosis: Excessive hair growth, particularly on the face, may occur in some individuals with cutaneous porphyrias.



Other Symptoms:


In addition to the specific symptoms associated with different types of porphyria, there are some general symptoms that may be present across various forms:



  • Digestive issues: Nausea, vomiting, constipation, and abdominal bloating can occur.

  • Respiratory problems: Some individuals may experience shortness of breath or difficulty breathing.

  • Cardiovascular symptoms: Rapid heartbeat, high blood pressure, and other cardiovascular issues may be present.

  • Muscle weakness: Weakness and fatigue can occur due to the effects of porphyria on the nervous system and muscles.

  • Urinary symptoms: Dark urine, sometimes turning reddish or purple upon exposure to air, may be observed.



It is important to note that the symptoms of porphyria can be episodic, meaning they come and go, and may be triggered by factors such as certain medications, hormonal changes, stress, fasting, or alcohol consumption. If you suspect you may have porphyria or are experiencing any of the aforementioned symptoms, it is crucial to consult a healthcare professional for proper diagnosis and management.


Diseasemaps
10 answers
Burning in the sun and getting swollen

Posted Feb 27, 2017 by Chante 100
The worst symptom is the pain. Abdominal pain and all over body pain.

Posted Feb 27, 2017 by Cassandra 1000
The sensitivity and burning sensation one experience outside in the sun.
I would love to get rid of all the skin lesions

Posted Jan 12, 2018 by Mari Blignault 1500
Symptoms are various. If you have AIP, than is commonly present acute abdominal pain, nausea and vomiting. Your skin and eyes could be yellow colored, and our urine reddish-brown like Porto vine.

Posted Jul 14, 2018 by Nadezda 750
Depends on the type and severity. For AIP, intense abdominal pain, neuropathy, constipation, depression, fatigue, and weakness are some common symptoms.

Posted Mar 30, 2019 by Jocelyn 800
For me, the brain fog, confusion, random anxiety/depression, fatigue.

Posted Mar 30, 2019 by NuggetMidge84 600
STOMACH PAIN, NAUSEA, FATIGUE, HIPONATREMIA,DIZZYNESS, ETC

Posted Mar 30, 2019 by Marie 2500
Depending on the type of porphyria (I have one of the Acute Hepatic Porphyrias - Variegate Porphyria) there can be several. Some of the Porphyrias, like Variegate Porphyria or VP as its known can have both cutaneous (meaning it affects the skin) and neurological , some patients with VP may only have their skin affected and others may only have the neurological aspects.
I have both of these.
The limitations in terms of being able to go out in the sun are huge
The skin blisters easily, oftentimes the sun touching the skin can be quite painful resulting in a sharp, burning sensation. The skin is prone to hives, bacterial infections from the severe itching. The skin scars easily, leaving purple scars visible, its also very fragile, prone to bruising and tearing and often very slow to heal.
The other symptoms on a daily basis include fatigue, varying in degrees from mild to extreme, loss of balance, co-ordination, brain fog which can hinder the ability to get through our day to day life. Body aches and pains, neuropathy flares which can be mild to severe, can last a few days to weeks. Fluid retention and a feeling of heaviness in the limbs. A general feeling of being unwell. Headaches, eye sensitivity to sunlight / fluorescent lighting. Anxiety issues, paranoia, obsessive compulsive behaviour, flank pain , abdominal pain from mild to severe in intensity. Digestive issues, constipation, nausea, insomnia, restless leg syndrome, nerve damage to various organs, urinary issues, kidney and liver complications, stress is a huge trigger so learning to manage this is vital. Anaemia, hypertension, tachycardia.

These are just some of the symptoms and for the most part we are able to function and live a relatively normal life with certain limitations if the Porphyria is under control and managed well however there are times when something can trigger an attack due to a build up of accumulated porphyrins and then the impact can certainly be limiting.
People may often have to change careers or give up their jobs because of the type of work undertaken. They may be too ill to continue working.
The battle with fatigue is debilitating and often times its difficult to be sociable or partake in activities because of the sheer amount of effort involved.
The anxiety and brain fog are particularly limiting. To feel like you are constantly looking through the world in a haze, where you just want to shake your head in the hope that the haze will clear and you can think straight but you know nothing will clear that! Anxiety which springs from nowhere, it has no reason to be there and you dont know why you feel that way or what set it off but it can be debilitating.
Not knowing how you will react to a drug or if you need to be prescribed a drug weighing up the risks, do you take the medication knowing that it may well make you sick or what will happen if you dont take it? Not everyone with the acute Porphyrias will react in the same way to meds. We all react differently, so whilst a drug may be safe for one person with the same Porphyria as you have the next person will have an attack. We just never know.
If I could get rid of some of the symptoms, I would chose the brain fog. I have had that since early teens, its become the most limiting of all things for me personally. It has affected my belief in myself and can be soul destroying.
The anxiety and depression would be next on my list then I would chose the neuropathy and nerve pain.

Posted May 29, 2021 by Carollynn 5770
The Pain from porphyria is excruciating. At first it seems like pain you might have had before, indigestion and joint pain. you think - his will go way soon enough. No Problem. However, the pain does not go away. It stays and the longer it stays with you the more debilitating it becomes until you are nothing but th epian. It will completely sweep you away and turn you into a zombie of horrid pain. The first time I felt it I was 18 years old. I stayed i bed in fetal position for a week until I started vomiting bile. That is when I was taken to the hospital.

Posted Jan 12, 2023 by Tracey 600

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