Living with Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
A rare mitochondrial (energy-making) condition with problems starting before birth and affecting many organs.
Understanding Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Problems begin before birth, including low amniotic fluid, slow growth, fluid buildup (hydrops), and anemia. After birth, babies can have a buildup of lactic acid, lung and heart problems, liver and kidney problems, seizures, and low platelets. Some less severely affected people have hearing loss and developmental delay. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fluid buildup before birth (hydrops)
- Anemia
- Low amniotic fluid
- Reduced liver function
- Heart defects
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in LARS2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CureARS and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LARS2 gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: hlasa; hydrops, lactic acidosis, and sideroblastic anaemia; hydrops, lactic acidosis, and sideroblastic anemia; hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome
Patient organizations
- CureARSHydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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