dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema is a disorder affecting red blood cell hydration and membrane stability. It is associated with variants in the PIEZO1 gene, which plays a critical role in regulating ion flow across cell membranes. The condition is inherited in an autosomal dominant pattern and tends to present with symptoms that vary widely among affected individuals. Prevalence estimates are not currently well established, and not all individuals with the genetic change experience every feature.

The clinical picture of this condition primarily involves signs related to red blood cell dysfunction. Some affected individuals may experience pallor, jaundice, and hemoglobinuria as indicators of red blood cell breakdown. In addition, other features such as cholelithiasis, hepatomegaly, splenomegaly, hepatitis, and increased circulating ferritin concentration have been reported in a subset of cases, typically in about 5 to 29 percent of patients. Not all individuals experience all features, and severity varies considerably.

This condition is caused by alterations in the PIEZO1 gene, which codes for an ion channel that is essential for maintaining proper red blood cell hydration. It is inherited in an autosomal dominant manner, meaning that a single altered copy of the gene can affect cell function. Because the presentation can be variable, even members of the same family may experience different symptoms. Genetic counseling is recommended to help families understand the implications of this inheritance pattern.

Currently, management focuses on supportive care and symptom management, with treatment tailored to the individual. Because there are no specific therapies approved for this condition, care typically involves regular monitoring and addressing complications such as gallstones or liver issues as they arise. A multidisciplinary team approach, along with genetic counseling, is recommended to help guide ongoing care and management decisions. Patients should discuss treatment options with their healthcare team to determine what strategies may be most appropriate for their situation.

The long‐term outlook for individuals with this condition is highly variable. With current standards of care and ongoing monitoring, many individuals maintain a good quality of life, although the progression and specific complications can differ widely between cases. Outcomes described in medical literature continue to evolve as standards of care improve, and it is important for families to stay engaged with their care team. Connecting with a genetic counselor and specialists in hematologic disorders can provide valuable guidance for family planning and ongoing management.