Our Focus

Acromegaly is a rare, debilitating endocrine disorder caused by the excess production of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). In the majority of cases, the disease is caused by a non-cancerous tumor on the pituitary gland. Prolonged exposure to GH and IGF-1 may cause patients to experience extreme physical changes including the enlargement of hands, feet and facial features. Acromegaly is also associated with increased mortality rates and serious health complications, including heart disease, hypertension, diabetes, and arthritis and colon cancer. In fact, heart disease is responsible for approximately 60% of deaths among people with acromegaly.

AIP is one of a group of blood conditions, known as porphyrias, that result from a lack of activity from a specific enzyme the body needs to produce heme. This causes a build-up of intermediate products (unfinished heme) which is thought to cause the characteristic and life-threatening symptoms of AIP. These symptoms include severe abdominal pain, vomiting, constipation, diarrhea, red or dark-colored urine, muscle weakness, breathing problems, fast heart rate, hypertension (high blood pressure), convulsions, psychological symptoms (such as minor behavioral changes, anxiety, confusion, or depression), and pain in the arms, hands, legs, feet, back, chest, neck, or head.

iMCD is a subset of Castleman disease involving multiple groups of enlarged lymph nodes in people who are human immunodeficiency virus (HIV) negative and human herpesvirus-8 (HHV-8) negative. It is a potentially life-threatening and difficult-to-diagnose condition that can hide in the shadows of other diseases. Patients can present with a range of nonspecific symptoms and laboratory abnormalities. Common clinical signs and symptoms of iMCD may include generalized lymphadenopathy, flu-like symptoms, fluid accumulation, and organomegaly. iMCD is a rare condition with approximately 1000 to 1100 cases diagnosed per year in the United States. It can affect a person regardless of their age, gender, or race. Although iMCD is a cytokine-driven disorder, the exact cause is unknown.

Cushing’s disease is a form of Cushing’s syndrome, in which chronically elevated cortisol levels is triggered by a pituitary adenoma secreting excess adrenocorticotropic hormone (ACTH). It is a rare, serious and difficult-to-treat disease that affects approximately one to two patients per million per year. Prolonged exposure to elevated cortisol levels is associated with considerable morbidity, mortality and impaired QoL as a result of complications and comorbidities. Normalization of cortisol levels is therefore a primary objective in the treatment of Cushing’s disease

Homocystinuria is the term used for several rare genetic disorders (diseases passed down through families) that cause levels of homocysteine to build up in blood and urine. This build-up primarily occurs when the body cannot properly process methionine. Methionine and homocysteine are two very important amino acids. Amino acids are the building blocks that the body uses to make proteins. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic causes. High levels of homocysteine and abnormal levels of methionine can cause many different symptoms in the body and lead to chronic, serious, and potentially life-threatening health issues.

Hyperammonemia, a metabolic condition characterized by excess ammonia in the blood, can be life-threatening and may affect patients at any age. Clinical signs and symptoms of hyperammonemia are typically neurological in origin, but they can be generally nonspecific and may suggest several diagnostic pathways. The clinical presentation of neonatal hyperammonemia, which can mimic sepsis, includes nonspecific symptoms that are mainly neurological in origin. Hyperammonemia in infants (beyond neonates), children, and adults may be more episodic, difficult to recognize and precipitated by catabolic events, protein overload or certain drugs. The causes of hyperammonemia are diverse. Some of the more common causes include liver disease, reactions to drugs, hemolytic disease, or gastrointestinal bleeds and urea cycle disorders (UCDs) or other inborn errors of metabolism (IEMs).

Neuroblastoma is a rare pediatric cancer that occurs in neural crest precursor cells. Tumors can develop at any site in the sympathetic nervous system, most frequently occurring in the adrenal medulla. Neuroblastoma is the most common extracranial solid tumor in children and accounts for approximately 10% of childhood cancer deaths annually.

Approximately 700 cases are diagnosed per year in the United States. Most children are diagnosed under the age of 5 years, with a median age at diagnosis of 17 months. In some cases, neuroblastoma lesions may regress spontaneously, however approximately half of patients are classified as high risk at diagnosis, which is associated with poor prognosis. Therapy is stage- and risk-stratified using combinations of clinical and biological prognostic factors.

Cystinosis is a rare genetic disorder affecting multiple organs and systems that most frequently begins in infancy. Cystinosis is estimated to affect 1 in every 100,000 - 200,000 live births each year. Cystinosis is caused by a mutation in the CTNS gene that results in impaired transport of the amino acid cystine out of lysosomes in cells. This, in turn, leads to the formation and accumulation of cystine crystals in cells, causing damage to organs throughout the body and significant impact on the eyes. Systemic treatment is not effective in the cornea, as it is avascular, and must be treated separately.

The cornea, or front layer of the eye, is the part of the eye that may be most affected. Systemic treatment is not effective in the cornea, as it is avascular, and must be treated separately. The first and most frequently reported ocular symptom is photophobia -- sensitivity to light that results in discomfort. It is thought that photophobia is mainly due to the presence of corneal cystine crystals that cause light entering the eye to scatter. As the disease progresses, ocular symptoms increase in number and intensity, daily activities become more difficult to carry out, and severe complications may develop, including visual impairment and potential corneal transplant.

Wilms’ tumor (Nephroblastoma)

• Wilms' tumor (nephroblastoma) is an embryonal malignancy of the kidney, the most common renal tumor of childhood.
• It usually presents as an abdominal mass in an otherwise apparently healthy child.
• The average age of diagnosis is 3-4 years old.
• The incidence is 8.2/1,000,000 for children under 15 years old.
• It represents 5% of childhood cancers.

Childhood rhabdomyosarcoma

• Rhabdomyosarcoma is the most common soft tissue tumor found in children and adolescents.
• It is a cancer made up of cells that normally develop into skeletal muscles.
• The incidence is 4.5/1,000,000 in children under 19 years old.
• It accounts for 5% of childhood cancers.

Ewing sarcoma

• Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.
• It is the second most frequent primary malignant bone cancer found in young people.
• The first symptom is usually pain at the tumor site, sometimes alongside a mass or swelling.
• It occurs in adolescents and young adults with a peak of incidence between ages 10 and 15. The median age of patients with Ewing’s sarcoma is 15 years old.
• The incidence is 9-10/1,000,000 in individuals ages 10 to 19 years old.

Gestational trophoblastic neoplasia

• Gestational trophoblastic tumors (GTT) or gestational trophoblastic neoplasia is a group of tumors that grow from the tissue that forms in the uterus during pregnancy.
• It develops from the cells that would normally develop into the placenta during pregnancy.
• GTT include invasive mole, choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor.
• Choriocarcinoma is the most aggressive form of GTT and can spread to the lungs, brain, liver, and other organs. The incidence is 2-7 per 100,000 pregnancies