A 15-year-old boy from Iran had a mysterious condition for 12 years that made him tired, weak, and anemic. Doctors discovered he had Imerslund-Gräsbeck Syndrome, a rare genetic disorder that prevents his body from absorbing vitamin B12 properly. When treated with vitamin B12 injections and folic acid supplements, his blood counts improved dramatically within three weeks. This case teaches doctors to look for this rare condition in young people with unexplained anemia, especially in the Middle East where it’s often missed.

The Quick Take

  • What they studied: A single patient with a rare genetic disease that prevents the body from absorbing vitamin B12, causing severe anemia and protein in the urine for over a decade
  • Who participated: One 15-year-old boy from Iran who had been sick with anemia and fatigue since age 3
  • Key finding: When treated with vitamin B12 injections and folic acid, the patient’s hemoglobin (oxygen-carrying protein in blood) jumped from dangerously low levels (6.9) to nearly normal (11.4) in just three weeks
  • What it means for you: If you or a young person you know has unexplained anemia that doesn’t respond to normal treatments, ask doctors to test for this rare condition. Early diagnosis and lifelong vitamin B12 treatment can prevent serious nerve damage and developmental problems. This is especially important in Middle Eastern populations where the condition is underdiagnosed.

The Research Details

This is a case report, which means doctors documented the medical story of one patient in detail. The 15-year-old boy came to the hospital with severe fatigue, nausea, and loss of appetite. Doctors ran blood tests that showed his red blood cells were abnormally large and his vitamin B12 levels were critically low. They also did a bone marrow test (taking a small sample from inside his bones) to confirm the type of anemia. The doctors didn’t do genetic testing to confirm the exact gene mutation, but all the other evidence pointed clearly to Imerslund-Gräsbeck Syndrome.

The patient was then treated with weekly vitamin B12 injections (1000 micrograms each day) and folic acid pills. Doctors tracked his blood counts over the next three weeks to see how he responded. This type of case report is valuable because it shows doctors what to look for when patients have unusual symptoms that don’t fit typical patterns.

Case reports are important for rare diseases because they help doctors recognize conditions they might otherwise miss. Since Imerslund-Gräsbeck Syndrome is very uncommon, many doctors have never seen it. By publishing this detailed story, the doctors are teaching other physicians worldwide to think about this diagnosis when they see young patients with unexplained anemia. This is especially crucial in the Middle East where the condition appears more common but is often overlooked.

This case report has both strengths and limitations. The strength is that doctors carefully documented the patient’s symptoms, test results, and response to treatment over time. The main limitation is that genetic testing wasn’t done to definitively confirm which gene was mutated, though the clinical evidence is very strong. Also, this is just one patient’s story, so we can’t know if all patients with this condition will respond the same way. The fact that it was published in a respected medical journal (BMC Pediatrics) means other experts reviewed it for accuracy.

What the Results Show

The patient had extremely low vitamin B12 levels (74.4 pg/mL, when normal is much higher) and large, immature red blood cells—a pattern called megaloblastic anemia. His blood counts were dangerously low across the board: hemoglobin was 6.9 (should be around 12-16), and platelets were only 38,000 (should be 150,000-400,000). His liver enzymes were also elevated, suggesting the liver was stressed.

After starting vitamin B12 injections and folic acid, the transformation was dramatic. Within just three weeks, his hemoglobin rose to 11.4 (nearly normal), his red blood cells returned to normal size, and his platelet count recovered to 91,000. His energy improved, nausea went away, and he could eat normally again.

Interestingly, the protein in his urine (proteinuria) didn’t completely go away, even though his other symptoms improved. This suggests that the kidney involvement in this disease might be a separate issue that needs different treatment or more time to resolve.

The case is particularly striking because the patient had suffered with this condition for 12 years before getting the right diagnosis and treatment. This long delay likely caused some permanent damage, though the details of any lasting effects aren’t fully described.

The elevated liver enzymes (AST at 346 and ALT at 225, both much higher than normal) improved with treatment, suggesting the liver damage was related to the vitamin B12 deficiency. The patient’s kidney function remained normal throughout, which is good news—it means the kidneys weren’t permanently damaged despite the proteinuria. The bone marrow biopsy showed megaloblastic changes, which confirmed that the bone marrow was trying to make red blood cells but couldn’t do it properly without adequate B12.

This case fits the typical pattern of Imerslund-Gräsbeck Syndrome described in medical literature, but with an unusually long delay before diagnosis. Most patients are diagnosed in early childhood when symptoms first appear. The dramatic response to vitamin B12 treatment matches what other doctors have reported. However, the persistent proteinuria is noteworthy and suggests this patient may have had additional complications from the long-standing deficiency.

This is a single case, so we can’t generalize the findings to all patients with this condition. The lack of genetic testing means we don’t know which specific gene mutation caused the disease in this patient. We also don’t know the long-term outcome—whether the proteinuria eventually resolved or whether the patient experienced any permanent neurological effects from the 12-year delay in treatment. The case doesn’t include information about the patient’s family members, so we don’t know if genetic counseling was offered to relatives who might carry the same mutation.

The Bottom Line

If you have a young person with unexplained anemia that doesn’t respond to iron supplements, ask for vitamin B12 testing. If B12 levels are low and other causes have been ruled out, ask doctors to consider Imerslund-Gräsbeck Syndrome, especially if there’s also protein in the urine. If diagnosed, lifelong vitamin B12 injections (not pills, since the absorption problem means pills won’t work) are essential. These recommendations are based on this one case and established medical knowledge about the condition, so discuss with your doctor how they apply to your specific situation.

Parents and doctors should care about this case if they’re dealing with a young person (especially children and teenagers) who has unexplained anemia, fatigue, or developmental delays. People from Middle Eastern backgrounds may have higher risk. People with a family history of this condition should be especially alert. However, this case doesn’t directly apply to adults with typical B12 deficiency from other causes (like pernicious anemia or dietary deficiency), which are much more common.

Based on this case, blood counts can improve dramatically within three weeks of starting treatment. However, full recovery of energy and appetite may take longer. The persistent proteinuria in this patient suggests some complications may not fully resolve even with treatment. Neurological effects from long-term deficiency might be permanent, which is why early diagnosis is so important.

Want to Apply This Research?

  • If you have this condition, track your energy levels daily (1-10 scale) and weekly blood test results (hemoglobin, B12 levels, platelet counts). Note any symptoms like fatigue, nausea, or numbness in hands/feet. This helps you and your doctor see if treatment is working and catch problems early.
  • Set a reminder for your vitamin B12 injection schedule (usually weekly or monthly) so you never miss a dose. Missing injections could cause symptoms to return. Also track any new symptoms like tingling in your hands or feet, which could indicate nerve damage from low B12.
  • Get blood tests every 3-6 months to check your B12 levels, hemoglobin, and blood cell counts. Keep a symptom diary to notice patterns. Report any new symptoms immediately to your doctor, especially numbness, tingling, or balance problems, since these could mean permanent nerve damage is developing.

This case report describes one patient’s experience with a rare genetic condition. It is not medical advice. If you or someone you know has unexplained anemia, fatigue, or other symptoms mentioned in this article, consult with a qualified healthcare provider for proper evaluation and diagnosis. Do not start or stop any medications without medical supervision. Genetic testing and specialist consultation may be necessary for accurate diagnosis. This information is for educational purposes only and should not replace professional medical care.