Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disorder characterized by neurological symptoms resulting from low calcium levels in the blood (hypocalcemia).
Understanding HSH
HSH is primarily caused by an issue with how the body processes magnesium. Specifically, it involves problems with magnesium absorption and/or retention in the kidneys. This deficiency in magnesium then leads to a secondary deficiency in calcium, which manifests as the neurological symptoms associated with the disease.
Key Characteristics of HSH
- Hypomagnesemia: Low levels of magnesium in the blood. This is the primary underlying issue.
- Secondary Hypocalcemia: Low levels of calcium in the blood, resulting from the magnesium deficiency. The body needs sufficient magnesium to properly regulate calcium levels.
- Neurological Symptoms: These can include:
- Tetany (muscle spasms and cramps)
- Muscle spasms
- Seizures
Inheritance and Rarity
HSH is an inherited genetic disease. Its rarity means that comprehensive epidemiological data is limited.
Diagnosis
Diagnosis usually involves:
- Blood tests to measure magnesium and calcium levels.
- Genetic testing to identify specific mutations causing the disorder.
Treatment
Treatment focuses on:
- Magnesium supplementation: This is the cornerstone of therapy, aiming to restore normal magnesium levels.
- Calcium supplementation: This may be necessary to address the hypocalcemia, especially during acute episodes.
- Management of neurological symptoms: Anti-seizure medications may be needed to control seizures.
Conclusion
HSH is a rare genetic disorder where a primary magnesium deficiency leads to secondary hypocalcemia and neurological symptoms, requiring lifelong magnesium and calcium management.
