Porphyria

21:55 - 4 May , 2021

Disease

What is Porphyria?

It is an inherited condition in which, due to a genetic abnormality, high levels of porphyrins accumulate in the blood, which can cause serious complications in the body. Let us remember that hemoglobin, present in red blood cells, is responsible for transporting oxygen, but when an adequate amount of heme, one of the components of hemoglobin, is not produced, porphyrins accumulate, triggering problems of varying severity. Porphyria is classified into two types:
  • Acute: in it, the nervous system is affected.
  • Cutaneous: alters the skin.
Porphyria is usually due to genetic disorders, although it can also be acquired as a result of liver disease, excessive iron, estrogen therapy, smoking, and alcoholism. There is no cure for this anomaly, so treatment focuses on controlling symptoms and preventing new crises.

Symptoms

The symptoms depend on the severity of the case and the type of porphyria, although there are also asymptomatic patients. Acute: This type appears suddenly, generating intense symptoms in the critical phase, which begin to progressively decrease days or weeks later:
  • Reddish color in the urine.
  • Anxiety.
  • Confusion.
  • Hallucinations.
  • Weakness.
  • Tiredness.
  • Numbness of the extremities.
  • Palpitations.
  • Increased blood pressure.
  • Seizures.
  • Breathing difficulties.
  • Urination problems.
  • Sore abdomen, chest, back, and legs.
  • Constipation.
  • Diarrhea.
  • Nausea.
  • Vomit.
  • Muscle pains.
Cutaneous: It is the most frequent type and is due to photosensitivity:
  • Blisters.
  • Skin pigmentation.
  • Itch.
  • Reddish color in the urine.
  • Hypersensitivity to sunlight and artificial light that causes burning.
  • Edema.
  • Erythema.

Diagnosis and treatment

Once your doctor analyzes your symptoms and clinical history, they will perform a physical examination, in addition to requesting blood, urine, and stool tests to determine the diagnosis with precision, although additional genetic tests may be required to identify the type of porphyria: The treatment plan will be established based on the severity of the symptoms, but in all cases, it will seek to eliminate the factors that cause it. Suppress factors that provoke attacks:
  • Do not expose yourself to the sun.
  • Lower your stress levels.
  • Avoid taking substances or drugs identified as triggers.
  • Stop using tobacco, alcohol, and drugs.
  • Do not do hypocaloric diets or prolonged fasting.
At ABC Medical Center’s Internal Medicine Department, we offer health care services with the highest quality and safety, from the prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies of both chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.

Fuentes:

  • medlineplus.gov
  • mayoclinic.org
  • msdmanuals.com
  • cun.es
  • topdoctors.es
  • medigraphic.com
  • Martínez VCA, Quintero GMA. Manejo de dolor con lidocaína en crisis aguda de porfiria en urgencias. An Med Asoc Med Hosp ABC. 2021;66(3):214-217. doi:10.35366/101670.
  • Tinoco J, Eloy A, Regufe R, et al. Porfiria aguda intermitente. Rev Mex Anest. 2021;44(3):229-232. doi:10.35366/99671.
  • Pérez-Elizondo AD, Sánchez-Castillo JL. Porfiria eritropoyética. Rev Med MD. 2018;9.10(1):48-51.
  • Jaramillo-Calle DA, Zapata-Cárdenas A. Avances en el diagnóstico y tratamiento de la porfiria intermitente aguda. Med Int Mex. 2017;33(5):655-667.

						
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