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Porphyric hemophilia is a family of disorders involving enzyme deficiencies that make it difficult to process heme precursors known as porphyrins. This term is actually outdated and the preferred word for these disorders is “porphyria,” as the conditions are not related to hemophilia, a bleeding disorder. Some of these disorders are genetic in nature, and people can inherit the genes from their parents or develop spontaneous mutations that lead to some form of porphyric hemophilia. Others are acquired later in life.
In patients with porphyric hemophilia, the body cannot synthesize heme from porphyrins. It has other sources it can use for heme, and usually cellular metabolism is not affected, but the patient experiences neurological symptoms because of the buildup of porphyrins. In the acute form of the disease, patients may experience nausea, tremors, seizures, hallucinations, and depression. Other patients have a cutaneous version, where skin reactions cause bruises, blistering, and sensitivity to light.
Doctors can diagnose porphyric hemophilia by looking for tell-tale signs of the condition, like high concentrations of porphyrins in the urine and feces. These can cause waste products to take on a purplish tinge. Doctors can also look for chemical compounds related to the enzyme deficiency, or check for issues like poor nerve conduction, indicative of nerve damage caused by the porphyrin buildup.
The focus of treatment is on managing the condition. Making some dietary changes can help, usually by having the patient eat more carbohydrates. The patient may also benefit from medications. It is also necessary to treat individual symptoms. If a patient has seizures, for instance, anti-seizure drugs can decrease their intensity and frequency to keep the patient more comfortable. Patients may also need treatment for mental illness associated with the condition, along with assistance to help them cope with neurological problems like tremors or difficulty walking.
People of all races can develop porphyric hemophilia, and the symptoms can sometimes be extreme. Some historians suggest that documented cases of neurological deficits paired with symptoms of mental illness like mania and paranoia may actually have been the result of porphyria. This retrospective diagnosis of historical figures is impossible to verify, as even if tissue samples were available, the tell-tale signs would be too degraded to find. In the case of modern patients, false negatives from improperly-handled samples are a known issue, and doctors must take special care when evaluating a patient with a suspected case of porphyric hemophilia to avoid missing diagnostic clues.