PROGRAM OPERATIONS MANUAL SYSTEMPart DI – Disability InsuranceChapter 230 – Special IssuesSubchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)Transmittal No. 43, 10/30/2020
This is a Quick Action Transmittal. These revisions do not change or introduce new policy or procedure.
Summary of Changes
DI 23022.670 Alobar Holoprosencephaly
Added "in" and "of" to second sentence in "Progression" section
DI 23022.765 Hypocomplementemic Urticarial Vasculitis Syndrome
Deleted "Urticarial Vasculitis;" from the "Alternate Names" section
Alobar Holoprosencephaly (HPE) is the most severe type of holoprosencephaly, a structural anomaly of the brain that occurs early in gestational development. Inalobar HPE, there is a complete failure of the brain to divide into right and left hemispheres, resulting in the loss of midline structures of the brain and face, as well as fusion of the cavities (ventricles) of the brain.
The affected fetus is usually stillborn or dies soon after birth, or during the first 6 months of life. HPE may be associated with trisomy syndromes or other genetic mutations found in at least 14 different genes.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
Diagnostic testing: MRI or CT of the brain
Physical findings : Most infants with alobar HPE have severe facial anomalies, including:
A single eye (cyclopia);
Very closely spaced eyes (ethmocephaly);
Absent eyes (anophthalmia);
Very small eye (microphthalmia) with a tubular-shaped nose (proboscis);
Closely spaced eyes (hypotelorism) and a flattened nose or cleft lip that occurs in the middle of the lip (median cleft lip) or on both sides (bilateral cleft lip).
Other findings may include:
Hydrocephalus (buildup of brain fluid);
Hypothalamic/pituitary and brain stem dysfunction;
Abnormal swallow or feeding difficulties; and
Failure to thrive/abnormal growth.
Outcomes for HPE vary based upon the severity of the malformation. Approximately 50% of children with alobar HPE die in the first six months of life before age 4 to 5 months.
There is no cure for HPE. Treatment is symptomatic and supportive and may include antiepileptic drugs for seizures and hormone replacement therapy for pituitary dysfunction.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
Clinical history and physical examination that describes the diagnostic features of the impairment; and
Cranial MRI or CT.
Suggested Listings for Evaluation:
Only alobar HPE is considered to meet the criteria in listing 110.08 A. For lobar and semilobar HPE, as the clinical course is more variable, evaluate on a case-by-case basis under affected body systems; growth and development, and functional limitation.
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.
HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS
Hypocomplementemic Vasculitis; McDuffie Syndrome
Hypocomplementemic Urticarial Vasculitis Syndrome (HUVS)
is a rare type of chronic autoimmune inflammation of small blood vessels and abnormally low levels of complement. HUVS is often associated with systemic diseases such as COPD, systemic lupus, and Sjögren syndrome.
Diagnostic testing: Laboratory tests of serum documenting complement deficiency and positive C1q antibody, and skin or organ biopsy documenting leukocytoclastic vasculitis (LCV), also known as hypersensitivity vasculitis. The clinical criteria for diagnosis of HUVS include characteristic chronic urticaria with residual hyperpigmentation, and inflammatory vasculitis with angioedema, glomerulonephritis, chronic obstructive pulmonary disease, arthritis, or uveitis.
Physical findings: HUVS usually involves the skin with painful urticaria (hives), and may cause inflammatory changes in joints, kidneys, gastrointestinal tract, lungs, heart, and eyes.
The prognosis of HUVS depends on the organ system involved. Lung disease results in significant morbidity and mortality, and is made worse by smoking. Kidney involvement with glomerulonephritis may ultimately result in end stage renal disease with need for kidney transplant. Death may also occur due to acute laryngeal edema.
The treatment of HUVS is determined by the organ involved and severity of the disease, and may include combinations of antihistamines, glucocorticoids and other immunosuppressive medications. COPD and cardiac valvular defects may require specific treatment.
Suggested MER for Evaluation:
Claimant’s medical source(s) records of clinical history and physical findings;
Skin and/or tissue biopsy report;
Laboratory reports showing abnormal complement levels and C1q antibody; or
Evidence of organ dysfunction, especially eye, renal, cardiac, and respiratory systems (for example, pulmonary function tests).