Porphyria
Disorders resulting from buildup of certain chemicals related to red blood cell proteins. Porphyria is a group of disorders caused by an overaccumulation of porphyrin which helps hemoglobin, the protein that carries oxygen in the blood.
Symptoms vary depending on the specific type. Acute porphyrias affect the nervous system and other organs. Cutaneous porphyrias primarily affect the skin.
Treatment depends on the type of porphyria.
Symptoms
Requires a medical diagnosis
Symptoms vary depending on the specific type. Acute porphyrias affect the nervous system and other organs. Cutaneous porphyrias primarily affect the skin.
Can have no symptoms, but people may experience:
Pain areas: in the abdomen
Gastrointestinal: constipation, nausea, or vomiting
Skin: rashes, blister, or darkening of the skin
Whole body: nervous system dysfunction or water-electrolyte imbalance
Muscular: cramping or muscle weakness
Sensory: pins and needles or sensitivity to light
Also common: anxiety, blood in urine, fast heart rate, itching, mental confusion, or seizures
Treatments
Intravenous (IV) fluids used to treat porphyria include glucose and heme:
Glucose
High doses of glucose can reduce heme synthesis and are used to treat mild attacks. The United Kingdom recommends a 5% glucose solution in 0.9% sodium chloride, infused at a rate of 2 liters every 24 hours. Dextrose 500 grams per day may also be used. Glucose solutions in water, like dextrose 5% or 10%, should be avoided as they can make hyponatremia worse. If vomiting prevents enteral administration, normal saline with 5-10% dextrose can be used.
Heme
Heme infusions are the most effective treatment for acute attacks and can last 3–14 days. Heme therapy is intended to prevent an episode from reaching a critical stage of neuronal degeneration. In Taiwan, heme arginate (HA) is the preferred form of intravenous heme therapy because it’s more stable and safer than hematin, which is available in the United States.
Other IV fluids that may be used to treat porphyria include:
Pain control: Opiates
Nausea and vomiting relief: Phenothiazines
Specialists who treat –
Primary care provider (PCP)
Prevents, diagnoses, and treats diseases.
Hematologist
Focuses on diagnosing and treating blood disorders.
Neurologist
Treats nervous system disorders.
Emergency medicine doctor
Treats patients in the emergency department.
Dermatologist
Focuses on disorders of skin, nails, and hair.
References
https://www.niddk.nih.gov/health-information/liver-disease/porphyria
Porphyria: Symptoms, Causes, Treatments
Porphyria is a group of rare disorders that affect the skin and nervous system. Cleveland Clinic discusses its causes, symptoms, diagnosis, treatment and more.
my.clevelandclinic.org
https://my.clevelandclinic.org/health/diseases/17760-porphyria