photosensitive Photo: VCG

A rare case is MKsportstrending top on Chinese social media that a Chinese woman was diagnosed with the "vampire disease" with her entire family including her husband and children being later found to carry the gene of the rare disease.

When you think of fatigue, feeling tired and low energy, what comes to mind? It could be lack of rest, overworking, or the common suboptimal health state of modern people. However, fatigue and low energy could also be signals of various diseases. The 52-year-old woman surnamed Lin was diagnosed with porphyria - a rare disease known to the public in recent years as the "vampire disease" - as a result, the Qianjiang Evening News reported on Sunday.

A year ago, Lin was working in sales, and was known for her optimism and outstanding performance. However, she began feeling weak and tired, initially attributing it to lack of rest. 

"Later, my face and hands turned yellow, and my colleagues urged me to see a doctor." Lin recalled. 

"After work the other day, I felt like I couldn't walk anymore. It took me almost an hour to climb the stairs from the first floor to the fourth floor, and I was out of breath with every step." Barely making it to her doorstep, Lin collapsed. Luckily, she was found by a warmhearted neighbor who contacted her family and rushed her to the hospital. 

Initially, local doctors suspected gallbladder issues, but tests showed low hemoglobin levels and everything else was normal. 

"Our doctor said I had severe anemia and prescribed iron supplements, but my condition worsened after the treatment." After taking iron supplements, Lin couldn't walk without assistance and couldn't figure out what strange illness she had. 

After being hospitalized for over half a month at a local hospital, she had recovered enough to walk on her own, but within a month, she relapsed. 

Lin then traveled to multiple locations in East China's Jiangsu Province and North China's Beijing for heart and gastrointestinal examinations, ruling out issues with the heart and digestive system. 

It wasn't until earlier this year that she visited Zhao Hong, a chief physician in the Infectious Diseases Department at the First Affiliated Hospital of Zhejiang University School of Medicine.

The medical team noticed an interesting pattern in Lin's most significant abnormal indicator, hemoglobin levels fluctuating rapidly. 

"Sometimes her hemoglobin levels would exceed 90g/L one day, but drop to 50g/L the next day," Zhao explained. This sudden drop in hemoglobin levels within a short period could be due to three reasons: blood loss, hemolytic diseases, or abnormal red blood cell synthesis. 

With the latter being the only possibility left, the medical team thought of a disease: porphyria.

Porphyria is a disease caused by a deficiency or reduced activity of enzymes in the body, leading to a blockage in the synthesis of hemoglobin, resulting in porphyrin metabolism disorders. Patients with porphyria are photosensitive and experience itching, burning, and pain when exposed to sunlight, hence the nickname "vampire disease." 

However, Lin only experienced fatigue without suffering any skin symptoms. Could it still be porphyria? 

"The symptoms of porphyria are diverse, including severe abdominal pain, vomiting, constipation, muscle pain, weakness or numbness, seizures, mental disorders and confusion." Zhao explained. 

After further tests, it was confirmed that Lin had a mutation in the FECH gene, indicating erythropoietic porphyria. The culprit behind Lin's chronic fatigue and anemia was finally identified. 

However, there is no specific treatment for porphyria, and the treatment approach varies depending on the type. Without treatment, it can lead to liver and kidney damage and other life-threatening conditions. After receiving symptomatic treatment, Lin's fatigue has improved, and she can now move independently, but she will need long-term medication and follow-up in the future.

Concerned about genetic issues, Lin's two children also underwent genetic testing, revealing that they also carry the porphyria gene mutation. While they have not developed symptoms yet, they could potentially fall ill under the same triggering factors. 

Lin's spouse, on the other hand, is a carrier of heterozygous gene mutation and is not at risk of developing the disease. 

Shockingly, out of the four family members, three are at risk of developing the "vampire disease" at any time.

Professor Yang Yida, also a deputy director of the Infectious Diseases Department at the First Affiliated Hospital of Zhejiang University, explained that triggers for porphyria include infections, fatigue, stress, menstruation, pregnancy, and medications (such as alcohol, barbiturates, sulfonamides, estrogens, etc.). The disease onset is often sudden and unpredictable. 

Yang advised individuals with a high-risk family history to undergo genetic testing and counseling. 

Doctors remind that fatigue is a common undifferentiated symptom in life, and if chronic fatigue cannot be relieved, it may indicate underlying health issues that require prompt medical attention.

Global Times